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Gene id 4851
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol NOTCH1   Gene   UCSC   Ensembl
Aliases AOS5, AOVD1, TAN1, hN1
Gene name notch 1
Alternate names neurogenic locus notch homolog protein 1, Notch homolog 1, translocation-associated, translocation-associated notch protein TAN-1,
Gene location 9q34.3 (136545785: 136494432)     Exons: 34     NC_000009.12
Gene summary(Entrez) This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]
OMIM 190198

Protein Summary

Protein general information P46531  

Name: Neurogenic locus notch homolog protein 1 (Notch 1) (hN1) (Translocation associated notch protein TAN 1) [Cleaved into: Notch 1 extracellular truncation (NEXT); Notch 1 intracellular domain (NICD)]

Length: 2555  Mass: 272,505

Tissue specificity: In fetal tissues most abundant in spleen, brain stem and lung. Also present in most adult tissues where it is found mainly in lymphoid tissues.

Sequence MPPLLAPLLCLALLPALAARGPRCSQPGETCLNGGKCEAANGTEACVCGGAFVGPRCQDPNPCLSTPCKNAGTCH
VVDRRGVADYACSCALGFSGPLCLTPLDNACLTNPCRNGGTCDLLTLTEYKCRCPPGWSGKSCQQADPCASNPCA
NGGQCLPFEASYICHCPPSFHGPTCRQDVNECGQKPGLCRHGGTCHNEVGSYRCVCRATHTGPNCERPYVPCSPS
PCQNGGTCRPTGDVTHECACLPGFTGQNCEENIDDCPGNNCKNGGACVDGVNTYNCRCPPEWTGQYCTEDVDECQ
LMPNACQNGGTCHNTHGGYNCVCVNGWTGEDCSENIDDCASAACFHGATCHDRVASFYCECPHGRTGLLCHLNDA
CISNPCNEGSNCDTNPVNGKAICTCPSGYTGPACSQDVDECSLGANPCEHAGKCINTLGSFECQCLQGYTGPRCE
IDVNECVSNPCQNDATCLDQIGEFQCICMPGYEGVHCEVNTDECASSPCLHNGRCLDKINEFQCECPTGFTGHLC
QYDVDECASTPCKNGAKCLDGPNTYTCVCTEGYTGTHCEVDIDECDPDPCHYGSCKDGVATFTCLCRPGYTGHHC
ETNINECSSQPCRHGGTCQDRDNAYLCFCLKGTTGPNCEINLDDCASSPCDSGTCLDKIDGYECACEPGYTGSMC
NINIDECAGNPCHNGGTCEDGINGFTCRCPEGYHDPTCLSEVNECNSNPCVHGACRDSLNGYKCDCDPGWSGTNC
DINNNECESNPCVNGGTCKDMTSGYVCTCREGFSGPNCQTNINECASNPCLNQGTCIDDVAGYKCNCLLPYTGAT
CEVVLAPCAPSPCRNGGECRQSEDYESFSCVCPTGWQGQTCEVDINECVLSPCRHGASCQNTHGGYRCHCQAGYS
GRNCETDIDDCRPNPCHNGGSCTDGINTAFCDCLPGFRGTFCEEDINECASDPCRNGANCTDCVDSYTCTCPAGF
SGIHCENNTPDCTESSCFNGGTCVDGINSFTCLCPPGFTGSYCQHDVNECDSQPCLHGGTCQDGCGSYRCTCPQG
YTGPNCQNLVHWCDSSPCKNGGKCWQTHTQYRCECPSGWTGLYCDVPSVSCEVAAQRQGVDVARLCQHGGLCVDA
GNTHHCRCQAGYTGSYCEDLVDECSPSPCQNGATCTDYLGGYSCKCVAGYHGVNCSEEIDECLSHPCQNGGTCLD
LPNTYKCSCPRGTQGVHCEINVDDCNPPVDPVSRSPKCFNNGTCVDQVGGYSCTCPPGFVGERCEGDVNECLSNP
CDARGTQNCVQRVNDFHCECRAGHTGRRCESVINGCKGKPCKNGGTCAVASNTARGFICKCPAGFEGATCENDAR
TCGSLRCLNGGTCISGPRSPTCLCLGPFTGPECQFPASSPCLGGNPCYNQGTCEPTSESPFYRCLCPAKFNGLLC
HILDYSFGGGAGRDIPPPLIEEACELPECQEDAGNKVCSLQCNNHACGWDGGDCSLNFNDPWKNCTQSLQCWKYF
SDGHCDSQCNSAGCLFDGFDCQRAEGQCNPLYDQYCKDHFSDGHCDQGCNSAECEWDGLDCAEHVPERLAAGTLV
VVVLMPPEQLRNSSFHFLRELSRVLHTNVVFKRDAHGQQMIFPYYGREEELRKHPIKRAAEGWAAPDALLGQVKA
SLLPGGSEGGRRRRELDPMDVRGSIVYLEIDNRQCVQASSQCFQSATDVAAFLGALASLGSLNIPYKIEAVQSET
VEPPPPAQLHFMYVAAAAFVLLFFVGCGVLLSRKRRRQHGQLWFPEGFKVSEASKKKRREPLGEDSVGLKPLKNA
SDGALMDDNQNEWGDEDLETKKFRFEEPVVLPDLDDQTDHRQWTQQHLDAADLRMSAMAPTPPQGEVDADCMDVN
VRGPDGFTPLMIASCSGGGLETGNSEEEEDAPAVISDFIYQGASLHNQTDRTGETALHLAARYSRSDAAKRLLEA
SADANIQDNMGRTPLHAAVSADAQGVFQILIRNRATDLDARMHDGTTPLILAARLAVEGMLEDLINSHADVNAVD
DLGKSALHWAAAVNNVDAAVVLLKNGANKDMQNNREETPLFLAAREGSYETAKVLLDHFANRDITDHMDRLPRDI
AQERMHHDIVRLLDEYNLVRSPQLHGAPLGGTPTLSPPLCSPNGYLGSLKPGVQGKKVRKPSSKGLACGSKEAKD
LKARRKKSQDGKGCLLDSSGMLSPVDSLESPHGYLSDVASPPLLPSPFQQSPSVPLNHLPGMPDTHLGIGHLNVA
AKPEMAALGGGGRLAFETGPPRLSHLPVASGTSTVLGSSSGGALNFTVGGSTSLNGQCEWLSRLQSGMVPNQYNP
LRGSVAPGPLSTQAPSLQHGMVGPLHSSLAASALSQMMSYQGLPSTRLATQPHLVQTQQVQPQNLQMQQQNLQPA
NIQQQQSLQPPPPPPQPHLGVSSAASGHLGRSFLSGEPSQADVQPLGPSSLAVHTILPQESPALPTSLPSSLVPP
VTAAQFLTPPSQHSYSSPVDNTPSHQLQVPEHPFLTPSPESPDQWSSSSPHSNVSDWSEGVSSPPTSMQSQIARI
PEAFK
Structural information
Protein Domains
EGF-like (20-58)
EGF-like (59-99)
EGF-like (102-139)
EGF-like (140-176)
Interpro:  IPR002110 IPR020683 IPR024600 IPR001881 IPR013032 IPR000742 IPR000152 IPR018097 IPR009030 IPR008297 IPR022362 IPR000800 IPR010660 IPR011656
Prosite:   PS50297 PS50088 PS00010 PS00022 PS01186 PS50026 PS01187 PS50258

Pfam:  
PF12796 PF11936 PF00008 PF07645 PF12661 PF06816 PF07684 PF00066

PDB:  
1PB5 1TOZ 1YYH 2F8X 2F8Y 2HE0 2VJ3 3ETO 3I08 3L95 3NBN 3V79 4CUD 4CUE 4CUF 4D0E 4D0F 5FM9 5FMA
PDBsum:   1PB5 1TOZ 1YYH 2F8X 2F8Y 2HE0 2VJ3 3ETO 3I08 3L95 3NBN 3V79 4CUD 4CUE 4CUF 4D0E 4D0F 5FM9 5FMA

DIP:  
29919
MINT:   1417018
STRING:   ENSP00000277541;
Other Databases GeneCards:  NOTCH1;  Malacards:  NOTCH1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0001047 core promoter binding
ISS molecular_function
GO:0001190 transcriptional activator
activity, RNA polymerase
II transcription factor
binding
ISS molecular_function
GO:0001669 acrosomal vesicle
IEA cellular_component
GO:0001701 in utero embryonic develo
pment
IEA biological_process
GO:0001708 cell fate specification
IEA biological_process
GO:0001837 epithelial to mesenchymal
transition
ISS biological_process
GO:0001889 liver development
IEA biological_process
GO:0001947 heart looping
ISS biological_process
GO:0002040 sprouting angiogenesis
IEA biological_process
GO:0002052 positive regulation of ne
uroblast proliferation
IEA biological_process
GO:0002193 MAML1-RBP-Jkappa- ICN1 co
mplex
IDA cellular_component
GO:0002437 inflammatory response to
antigenic stimulus
IEA biological_process
GO:0003157 endocardium development
ISS biological_process
GO:0003160 endocardium morphogenesis
ISS biological_process
GO:0003162 atrioventricular node dev
elopment
IEA biological_process
GO:0003169 coronary vein morphogenes
is
ISS biological_process
GO:0003180 aortic valve morphogenesi
s
IMP biological_process
GO:0003180 aortic valve morphogenesi
s
IMP biological_process
GO:0003181 atrioventricular valve mo
rphogenesis
ISS biological_process
GO:0003184 pulmonary valve morphogen
esis
IMP biological_process
GO:0003192 mitral valve formation
IMP biological_process
GO:0003198 epithelial to mesenchymal
transition involved in e
ndocardial cushion format
ion
ISS biological_process
GO:0003203 endocardial cushion morph
ogenesis
ISS biological_process
GO:0003207 cardiac chamber formation
ISS biological_process
GO:0003208 cardiac ventricle morphog
enesis
ISS biological_process
GO:0003209 cardiac atrium morphogene
sis
ISS biological_process
GO:0003213 cardiac right atrium morp
hogenesis
ISS biological_process
GO:0003214 cardiac left ventricle mo
rphogenesis
ISS biological_process
GO:0003219 cardiac right ventricle f
ormation
IEA biological_process
GO:0003222 ventricular trabecula myo
cardium morphogenesis
ISS biological_process
GO:0003241 growth involved in heart
morphogenesis
ISS biological_process
GO:0003256 regulation of transcripti
on from RNA polymerase II
promoter involved in myo
cardial precursor cell di
fferentiation
ISS biological_process
GO:0003270 Notch signaling pathway i
nvolved in regulation of
secondary heart field car
dioblast proliferation
IEA biological_process
GO:0003273 cell migration involved i
n endocardial cushion for
mation
ISS biological_process
GO:0003344 pericardium morphogenesis
ISS biological_process
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0004857 enzyme inhibitor activity
ISS molecular_function
GO:0004872 receptor activity
IEA molecular_function
GO:0005112 Notch binding
IEA molecular_function
GO:0005509 calcium ion binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005634 nucleus
ISS cellular_component
GO:0005634 nucleus
ISS cellular_component
GO:0005634 nucleus
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005912 adherens junction
ISS cellular_component
GO:0006355 regulation of transcripti
on, DNA-templated
TAS biological_process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
TAS biological_process
GO:0006955 immune response
NAS biological_process
GO:0006959 humoral immune response
IEA biological_process
GO:0007219 Notch signaling pathway
TAS biological_process
GO:0007219 Notch signaling pathway
IMP biological_process
GO:0007219 Notch signaling pathway
TAS biological_process
GO:0007221 positive regulation of tr
anscription of Notch rece
ptor target
ISS biological_process
GO:0007283 spermatogenesis
IEA biological_process
GO:0007368 determination of left/rig
ht symmetry
ISS biological_process
GO:0007386 compartment pattern speci
fication
IEA biological_process
GO:0007409 axonogenesis
IEA biological_process
GO:0007440 foregut morphogenesis
IEA biological_process
GO:0007492 endoderm development
IEA biological_process
GO:0007507 heart development
IMP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0009912 auditory receptor cell fa
te commitment
IEA biological_process
GO:0009986 cell surface
IEA cellular_component
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IMP biological_process
GO:0010812 negative regulation of ce
ll-substrate adhesion
IDA biological_process
GO:0010832 negative regulation of my
otube differentiation
ISS biological_process
GO:0014031 mesenchymal cell developm
ent
ISS biological_process
GO:0014807 regulation of somitogenes
is
IEA biological_process
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016324 apical plasma membrane
ISS cellular_component
GO:0019899 enzyme binding
ISS molecular_function
GO:0021515 cell differentiation in s
pinal cord
IEA biological_process
GO:0021915 neural tube development
IEA biological_process
GO:0030216 keratinocyte differentiat
ion
IEA biological_process
GO:0030279 negative regulation of os
sification
ISS biological_process
GO:0030324 lung development
IEA biological_process
GO:0030335 positive regulation of ce
ll migration
ISS biological_process
GO:0030513 positive regulation of BM
P signaling pathway
ISS biological_process
GO:0030514 negative regulation of BM
P signaling pathway
ISS biological_process
GO:0030900 forebrain development
IEA biological_process
GO:0031069 hair follicle morphogenes
is
IEA biological_process
GO:0031100 animal organ regeneration
IEA biological_process
GO:0031490 chromatin DNA binding
IEA molecular_function
GO:0031960 response to corticosteroi
d
IEA biological_process
GO:0032495 response to muramyl dipep
tide
IEA biological_process
GO:0032496 response to lipopolysacch
aride
IEA biological_process
GO:0035116 embryonic hindlimb morpho
genesis
IEA biological_process
GO:0035148 tube formation
IMP biological_process
GO:0035914 skeletal muscle cell diff
erentiation
IEA biological_process
GO:0035924 cellular response to vasc
ular endothelial growth f
actor stimulus
IDA biological_process
GO:0042246 tissue regeneration
IEA biological_process
GO:0043065 positive regulation of ap
optotic process
IEA biological_process
GO:0043086 negative regulation of ca
talytic activity
ISS biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0043565 sequence-specific DNA bin
ding
IEA molecular_function
GO:0045070 positive regulation of vi
ral genome replication
IEA biological_process
GO:0045603 positive regulation of en
dothelial cell differenti
ation
IEA biological_process
GO:0045608 negative regulation of au
ditory receptor cell diff
erentiation
IEA biological_process
GO:0045618 positive regulation of ke
ratinocyte differentiatio
n
IEA biological_process
GO:0045662 negative regulation of my
oblast differentiation
IMP biological_process
GO:0045668 negative regulation of os
teoblast differentiation
ISS biological_process
GO:0045747 positive regulation of No
tch signaling pathway
IEA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045955 negative regulation of ca
lcium ion-dependent exocy
tosis
IEA biological_process
GO:0046427 positive regulation of JA
K-STAT cascade
ISS biological_process
GO:0046533 negative regulation of ph
otoreceptor cell differen
tiation
IEA biological_process
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048103 somatic stem cell divisio
n
IEA biological_process
GO:0048708 astrocyte differentiation
IEA biological_process
GO:0048709 oligodendrocyte different
iation
IEA biological_process
GO:0048711 positive regulation of as
trocyte differentiation
ISS biological_process
GO:0048715 negative regulation of ol
igodendrocyte differentia
tion
ISS biological_process
GO:0048754 branching morphogenesis o
f an epithelial tube
IEA biological_process
GO:0050434 positive regulation of vi
ral transcription
IEA biological_process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
IEA biological_process
GO:0050768 negative regulation of ne
urogenesis
ISS biological_process
GO:0055008 cardiac muscle tissue mor
phogenesis
ISS biological_process
GO:0060038 cardiac muscle cell proli
feration
IEA biological_process
GO:0060045 positive regulation of ca
rdiac muscle cell prolife
ration
ISS biological_process
GO:0060253 negative regulation of gl
ial cell proliferation
ISS biological_process
GO:0060271 cilium assembly
ISS biological_process
GO:0060317 cardiac epithelial to mes
enchymal transition
ISS biological_process
GO:0060411 cardiac septum morphogene
sis
ISS biological_process
GO:0060412 ventricular septum morpho
genesis
IMP biological_process
GO:0060528 secretory columnal lumina
r epithelial cell differe
ntiation involved in pros
tate glandular acinus dev
elopment
IEA biological_process
GO:0060740 prostate gland epithelium
morphogenesis
IEA biological_process
GO:0060768 regulation of epithelial
cell proliferation involv
ed in prostate gland deve
lopment
IEA biological_process
GO:0060842 arterial endothelial cell
differentiation
ISS biological_process
GO:0060843 venous endothelial cell d
ifferentiation
ISS biological_process
GO:0060948 cardiac vascular smooth m
uscle cell development
ISS biological_process
GO:0060956 endocardial cell differen
tiation
ISS biological_process
GO:0060979 vasculogenesis involved i
n coronary vascular morph
ogenesis
ISS biological_process
GO:0060982 coronary artery morphogen
esis
ISS biological_process
GO:0061314 Notch signaling involved
in heart development
IMP biological_process
GO:0061314 Notch signaling involved
in heart development
IMP biological_process
GO:0061384 heart trabecula morphogen
esis
ISS biological_process
GO:0061419 positive regulation of tr
anscription from RNA poly
merase II promoter in res
ponse to hypoxia
ISS biological_process
GO:0070986 left/right axis specifica
tion
IEA biological_process
GO:0071372 cellular response to foll
icle-stimulating hormone
stimulus
IDA biological_process
GO:0072017 distal tubule development
IEA biological_process
GO:0072044 collecting duct developme
nt
IEA biological_process
GO:0072144 glomerular mesangial cell
development
IEA biological_process
GO:0072602 interleukin-4 secretion
IEA biological_process
GO:0090051 negative regulation of ce
ll migration involved in
sprouting angiogenesis
IDA biological_process
GO:0090090 negative regulation of ca
nonical Wnt signaling pat
hway
IEA biological_process
GO:0097150 neuronal stem cell popula
tion maintenance
IEP biological_process
GO:1901201 regulation of extracellul
ar matrix assembly
ISS biological_process
GO:1902263 apoptotic process involve
d in embryonic digit morp
hogenesis
IEA biological_process
GO:2000737 negative regulation of st
em cell differentiation
IMP biological_process
GO:2000811 negative regulation of an
oikis
IMP biological_process
GO:2000974 negative regulation of pr
o-B cell differentiation
ISS biological_process
GO:2001027 negative regulation of en
dothelial cell chemotaxis
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0001047 core promoter binding
IEA molecular_function
GO:0001047 core promoter binding
ISS molecular_function
GO:0001190 transcriptional activator
activity, RNA polymerase
II transcription factor
binding
IEA molecular_function
GO:0001190 transcriptional activator
activity, RNA polymerase
II transcription factor
binding
ISS molecular_function
GO:0001525 angiogenesis
IEA biological_process
GO:0001669 acrosomal vesicle
IEA cellular_component
GO:0001701 in utero embryonic develo
pment
IEA biological_process
GO:0001708 cell fate specification
IEA biological_process
GO:0001837 epithelial to mesenchymal
transition
IEA biological_process
GO:0001837 epithelial to mesenchymal
transition
ISS biological_process
GO:0001889 liver development
IEA biological_process
GO:0001947 heart looping
IEA biological_process
GO:0001947 heart looping
ISS biological_process
GO:0002040 sprouting angiogenesis
IEA biological_process
GO:0002052 positive regulation of ne
uroblast proliferation
IEA biological_process
GO:0002193 MAML1-RBP-Jkappa- ICN1 co
mplex
IDA cellular_component
GO:0002437 inflammatory response to
antigenic stimulus
IEA biological_process
GO:0003157 endocardium development
IEA biological_process
GO:0003157 endocardium development
ISS biological_process
GO:0003160 endocardium morphogenesis
IEA biological_process
GO:0003160 endocardium morphogenesis
ISS biological_process
GO:0003162 atrioventricular node dev
elopment
IEA biological_process
GO:0003169 coronary vein morphogenes
is
IEA biological_process
GO:0003169 coronary vein morphogenes
is
ISS biological_process
GO:0003180 aortic valve morphogenesi
s
IMP biological_process
GO:0003180 aortic valve morphogenesi
s
IMP biological_process
GO:0003181 atrioventricular valve mo
rphogenesis
IEA biological_process
GO:0003181 atrioventricular valve mo
rphogenesis
ISS biological_process
GO:0003184 pulmonary valve morphogen
esis
IMP biological_process
GO:0003192 mitral valve formation
IMP biological_process
GO:0003197 endocardial cushion devel
opment
IEA biological_process
GO:0003198 epithelial to mesenchymal
transition involved in e
ndocardial cushion format
ion
IEA biological_process
GO:0003198 epithelial to mesenchymal
transition involved in e
ndocardial cushion format
ion
ISS biological_process
GO:0003203 endocardial cushion morph
ogenesis
IEA biological_process
GO:0003203 endocardial cushion morph
ogenesis
ISS biological_process
GO:0003207 cardiac chamber formation
IEA biological_process
GO:0003207 cardiac chamber formation
ISS biological_process
GO:0003208 cardiac ventricle morphog
enesis
IEA biological_process
GO:0003208 cardiac ventricle morphog
enesis
ISS biological_process
GO:0003209 cardiac atrium morphogene
sis
IEA biological_process
GO:0003209 cardiac atrium morphogene
sis
ISS biological_process
GO:0003213 cardiac right atrium morp
hogenesis
IEA biological_process
GO:0003213 cardiac right atrium morp
hogenesis
ISS biological_process
GO:0003214 cardiac left ventricle mo
rphogenesis
IEA biological_process
GO:0003214 cardiac left ventricle mo
rphogenesis
ISS biological_process
GO:0003219 cardiac right ventricle f
ormation
IEA biological_process
GO:0003222 ventricular trabecula myo
cardium morphogenesis
IEA biological_process
GO:0003222 ventricular trabecula myo
cardium morphogenesis
ISS biological_process
GO:0003241 growth involved in heart
morphogenesis
IEA biological_process
GO:0003241 growth involved in heart
morphogenesis
ISS biological_process
GO:0003256 regulation of transcripti
on from RNA polymerase II
promoter involved in myo
cardial precursor cell di
fferentiation
IEA biological_process
GO:0003256 regulation of transcripti
on from RNA polymerase II
promoter involved in myo
cardial precursor cell di
fferentiation
ISS biological_process
GO:0003264 regulation of cardioblast
proliferation
IEA biological_process
GO:0003270 Notch signaling pathway i
nvolved in regulation of
secondary heart field car
dioblast proliferation
IEA biological_process
GO:0003273 cell migration involved i
n endocardial cushion for
mation
IEA biological_process
GO:0003273 cell migration involved i
n endocardial cushion for
mation
ISS biological_process
GO:0003344 pericardium morphogenesis
IEA biological_process
GO:0003344 pericardium morphogenesis
ISS biological_process
GO:0003682 chromatin binding
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0004857 enzyme inhibitor activity
IEA molecular_function
GO:0004857 enzyme inhibitor activity
ISS molecular_function
GO:0004872 receptor activity
IEA molecular_function
GO:0005112 Notch binding
IEA molecular_function
GO:0005509 calcium ion binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
ISS cellular_component
GO:0005634 nucleus
ISS cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005912 adherens junction
IEA cellular_component
GO:0005912 adherens junction
ISS cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
TAS biological_process
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
IEA biological_process
GO:0006366 transcription from RNA po
lymerase II promoter
IEA biological_process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
TAS biological_process
GO:0006955 immune response
NAS biological_process
GO:0006959 humoral immune response
IEA biological_process
GO:0007219 Notch signaling pathway
IEA biological_process
GO:0007219 Notch signaling pathway
IEA biological_process
GO:0007219 Notch signaling pathway
IEA biological_process
GO:0007219 Notch signaling pathway
TAS biological_process
GO:0007219 Notch signaling pathway
IMP biological_process
GO:0007219 Notch signaling pathway
TAS biological_process
GO:0007221 positive regulation of tr
anscription of Notch rece
ptor target
IEA biological_process
GO:0007221 positive regulation of tr
anscription of Notch rece
ptor target
ISS biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0007283 spermatogenesis
IEA biological_process
GO:0007368 determination of left/rig
ht symmetry
IEA biological_process
GO:0007368 determination of left/rig
ht symmetry
ISS biological_process
GO:0007386 compartment pattern speci
fication
IEA biological_process
GO:0007409 axonogenesis
IEA biological_process
GO:0007420 brain development
IEA biological_process
GO:0007440 foregut morphogenesis
IEA biological_process
GO:0007492 endoderm development
IEA biological_process
GO:0007507 heart development
IMP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008544 epidermis development
IEA biological_process
GO:0008593 regulation of Notch signa
ling pathway
IEA biological_process
GO:0009912 auditory receptor cell fa
te commitment
IEA biological_process
GO:0009986 cell surface
IEA cellular_component
GO:0010001 glial cell differentiatio
n
IEA biological_process
GO:0010468 regulation of gene expres
sion
IEA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IEA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IMP biological_process
GO:0010812 negative regulation of ce
ll-substrate adhesion
IDA biological_process
GO:0010832 negative regulation of my
otube differentiation
IEA biological_process
GO:0010832 negative regulation of my
otube differentiation
ISS biological_process
GO:0014031 mesenchymal cell developm
ent
IEA biological_process
GO:0014031 mesenchymal cell developm
ent
ISS biological_process
GO:0014807 regulation of somitogenes
is
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016324 apical plasma membrane
IEA cellular_component
GO:0016324 apical plasma membrane
ISS cellular_component
GO:0019899 enzyme binding
IEA molecular_function
GO:0019899 enzyme binding
ISS molecular_function
GO:0021515 cell differentiation in s
pinal cord
IEA biological_process
GO:0021915 neural tube development
IEA biological_process
GO:0030154 cell differentiation
IEA biological_process
GO:0030154 cell differentiation
IEA biological_process
GO:0030154 cell differentiation
IEA biological_process
GO:0030182 neuron differentiation
IEA biological_process
GO:0030216 keratinocyte differentiat
ion
IEA biological_process
GO:0030279 negative regulation of os
sification
IEA biological_process
GO:0030279 negative regulation of os
sification
ISS biological_process
GO:0030324 lung development
IEA biological_process
GO:0030326 embryonic limb morphogene
sis
IEA biological_process
GO:0030334 regulation of cell migrat
ion
IEA biological_process
GO:0030335 positive regulation of ce
ll migration
IEA biological_process
GO:0030335 positive regulation of ce
ll migration
ISS biological_process
GO:0030513 positive regulation of BM
P signaling pathway
IEA biological_process
GO:0030513 positive regulation of BM
P signaling pathway
ISS biological_process
GO:0030514 negative regulation of BM
P signaling pathway
IEA biological_process
GO:0030514 negative regulation of BM
P signaling pathway
ISS biological_process
GO:0030900 forebrain development
IEA biological_process
GO:0031069 hair follicle morphogenes
is
IEA biological_process
GO:0031100 animal organ regeneration
IEA biological_process
GO:0031410 cytoplasmic vesicle
IEA cellular_component
GO:0031490 chromatin DNA binding
IEA molecular_function
GO:0031960 response to corticosteroi
d
IEA biological_process
GO:0032495 response to muramyl dipep
tide
IEA biological_process
GO:0032496 response to lipopolysacch
aride
IEA biological_process
GO:0035116 embryonic hindlimb morpho
genesis
IEA biological_process
GO:0035148 tube formation
IMP biological_process
GO:0035914 skeletal muscle cell diff
erentiation
IEA biological_process
GO:0035924 cellular response to vasc
ular endothelial growth f
actor stimulus
IDA biological_process
GO:0042127 regulation of cell prolif
eration
IEA biological_process
GO:0042246 tissue regeneration
IEA biological_process
GO:0043065 positive regulation of ap
optotic process
IEA biological_process
GO:0043086 negative regulation of ca
talytic activity
IEA biological_process
GO:0043086 negative regulation of ca
talytic activity
ISS biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0043565 sequence-specific DNA bin
ding
IEA molecular_function
GO:0045070 positive regulation of vi
ral genome replication
IEA biological_process
GO:0045165 cell fate commitment
IEA biological_process
GO:0045596 negative regulation of ce
ll differentiation
IEA biological_process
GO:0045603 positive regulation of en
dothelial cell differenti
ation
IEA biological_process
GO:0045607 regulation of auditory re
ceptor cell differentiati
on
IEA biological_process
GO:0045608 negative regulation of au
ditory receptor cell diff
erentiation
IEA biological_process
GO:0045618 positive regulation of ke
ratinocyte differentiatio
n
IEA biological_process
GO:0045662 negative regulation of my
oblast differentiation
IMP biological_process
GO:0045665 negative regulation of ne
uron differentiation
IEA biological_process
GO:0045668 negative regulation of os
teoblast differentiation
IEA biological_process
GO:0045668 negative regulation of os
teoblast differentiation
ISS biological_process
GO:0045687 positive regulation of gl
ial cell differentiation
IEA biological_process
GO:0045747 positive regulation of No
tch signaling pathway
IEA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IEA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045955 negative regulation of ca
lcium ion-dependent exocy
tosis
IEA biological_process
GO:0046427 positive regulation of JA
K-STAT cascade
IEA biological_process
GO:0046427 positive regulation of JA
K-STAT cascade
ISS biological_process
GO:0046533 negative regulation of ph
otoreceptor cell differen
tiation
IEA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0048103 somatic stem cell divisio
n
IEA biological_process
GO:0048663 neuron fate commitment
IEA biological_process
GO:0048708 astrocyte differentiation
IEA biological_process
GO:0048709 oligodendrocyte different
iation
IEA biological_process
GO:0048711 positive regulation of as
trocyte differentiation
IEA biological_process
GO:0048711 positive regulation of as
trocyte differentiation
ISS biological_process
GO:0048715 negative regulation of ol
igodendrocyte differentia
tion
IEA biological_process
GO:0048715 negative regulation of ol
igodendrocyte differentia
tion
ISS biological_process
GO:0048754 branching morphogenesis o
f an epithelial tube
IEA biological_process
GO:0050434 positive regulation of vi
ral transcription
IEA biological_process
GO:0050678 regulation of epithelial
cell proliferation
IEA biological_process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
IEA biological_process
GO:0050767 regulation of neurogenesi
s
IEA biological_process
GO:0050768 negative regulation of ne
urogenesis
IEA biological_process
GO:0050768 negative regulation of ne
urogenesis
ISS biological_process
GO:0050793 regulation of development
al process
IEA biological_process
GO:0055008 cardiac muscle tissue mor
phogenesis
IEA biological_process
GO:0055008 cardiac muscle tissue mor
phogenesis
ISS biological_process
GO:0060038 cardiac muscle cell proli
feration
IEA biological_process
GO:0060045 positive regulation of ca
rdiac muscle cell prolife
ration
IEA biological_process
GO:0060045 positive regulation of ca
rdiac muscle cell prolife
ration
ISS biological_process
GO:0060253 negative regulation of gl
ial cell proliferation
IEA biological_process
GO:0060253 negative regulation of gl
ial cell proliferation
ISS biological_process
GO:0060271 cilium assembly
ISS biological_process
GO:0060317 cardiac epithelial to mes
enchymal transition
IEA biological_process
GO:0060317 cardiac epithelial to mes
enchymal transition
ISS biological_process
GO:0060411 cardiac septum morphogene
sis
IEA biological_process
GO:0060411 cardiac septum morphogene
sis
ISS biological_process
GO:0060412 ventricular septum morpho
genesis
IMP biological_process
GO:0060528 secretory columnal lumina
r epithelial cell differe
ntiation involved in pros
tate glandular acinus dev
elopment
IEA biological_process
GO:0060548 negative regulation of ce
ll death
IEA biological_process
GO:0060740 prostate gland epithelium
morphogenesis
IEA biological_process
GO:0060768 regulation of epithelial
cell proliferation involv
ed in prostate gland deve
lopment
IEA biological_process
GO:0060842 arterial endothelial cell
differentiation
IEA biological_process
GO:0060842 arterial endothelial cell
differentiation
ISS biological_process
GO:0060843 venous endothelial cell d
ifferentiation
IEA biological_process
GO:0060843 venous endothelial cell d
ifferentiation
ISS biological_process
GO:0060948 cardiac vascular smooth m
uscle cell development
IEA biological_process
GO:0060948 cardiac vascular smooth m
uscle cell development
ISS biological_process
GO:0060956 endocardial cell differen
tiation
IEA biological_process
GO:0060956 endocardial cell differen
tiation
ISS biological_process
GO:0060979 vasculogenesis involved i
n coronary vascular morph
ogenesis
IEA biological_process
GO:0060979 vasculogenesis involved i
n coronary vascular morph
ogenesis
ISS biological_process
GO:0060982 coronary artery morphogen
esis
IEA biological_process
GO:0060982 coronary artery morphogen
esis
ISS biological_process
GO:0061314 Notch signaling involved
in heart development
IEA biological_process
GO:0061314 Notch signaling involved
in heart development
IMP biological_process
GO:0061314 Notch signaling involved
in heart development
IMP biological_process
GO:0061384 heart trabecula morphogen
esis
IEA biological_process
GO:0061384 heart trabecula morphogen
esis
ISS biological_process
GO:0061419 positive regulation of tr
anscription from RNA poly
merase II promoter in res
ponse to hypoxia
IEA biological_process
GO:0061419 positive regulation of tr
anscription from RNA poly
merase II promoter in res
ponse to hypoxia
ISS biological_process
GO:0070986 left/right axis specifica
tion
IEA biological_process
GO:0071372 cellular response to foll
icle-stimulating hormone
stimulus
IDA biological_process
GO:0071944 cell periphery
IEA cellular_component
GO:0072017 distal tubule development
IEA biological_process
GO:0072044 collecting duct developme
nt
IEA biological_process
GO:0072144 glomerular mesangial cell
development
IEA biological_process
GO:0072602 interleukin-4 secretion
IEA biological_process
GO:0090051 negative regulation of ce
ll migration involved in
sprouting angiogenesis
IDA biological_process
GO:0090090 negative regulation of ca
nonical Wnt signaling pat
hway
IEA biological_process
GO:0097150 neuronal stem cell popula
tion maintenance
IEP biological_process
GO:1901201 regulation of extracellul
ar matrix assembly
IEA biological_process
GO:1901201 regulation of extracellul
ar matrix assembly
ISS biological_process
GO:1902263 apoptotic process involve
d in embryonic digit morp
hogenesis
IEA biological_process
GO:2000737 negative regulation of st
em cell differentiation
IMP biological_process
GO:2000811 negative regulation of an
oikis
IMP biological_process
GO:2000974 negative regulation of pr
o-B cell differentiation
IEA biological_process
GO:2000974 negative regulation of pr
o-B cell differentiation
ISS biological_process
GO:2001027 negative regulation of en
dothelial cell chemotaxis
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0000139 Golgi membrane
TAS cellular_component
GO:0001047 core promoter binding
ISS molecular_function
GO:0001190 transcriptional activator
activity, RNA polymerase
II transcription factor
binding
ISS molecular_function
GO:0001837 epithelial to mesenchymal
transition
ISS biological_process
GO:0001947 heart looping
ISS biological_process
GO:0002193 MAML1-RBP-Jkappa- ICN1 co
mplex
IDA cellular_component
GO:0003157 endocardium development
ISS biological_process
GO:0003160 endocardium morphogenesis
ISS biological_process
GO:0003169 coronary vein morphogenes
is
ISS biological_process
GO:0003180 aortic valve morphogenesi
s
IMP biological_process
GO:0003180 aortic valve morphogenesi
s
IMP biological_process
GO:0003181 atrioventricular valve mo
rphogenesis
ISS biological_process
GO:0003184 pulmonary valve morphogen
esis
IMP biological_process
GO:0003192 mitral valve formation
IMP biological_process
GO:0003198 epithelial to mesenchymal
transition involved in e
ndocardial cushion format
ion
ISS biological_process
GO:0003203 endocardial cushion morph
ogenesis
ISS biological_process
GO:0003207 cardiac chamber formation
ISS biological_process
GO:0003208 cardiac ventricle morphog
enesis
ISS biological_process
GO:0003209 cardiac atrium morphogene
sis
ISS biological_process
GO:0003213 cardiac right atrium morp
hogenesis
ISS biological_process
GO:0003214 cardiac left ventricle mo
rphogenesis
ISS biological_process
GO:0003222 ventricular trabecula myo
cardium morphogenesis
ISS biological_process
GO:0003241 growth involved in heart
morphogenesis
ISS biological_process
GO:0003256 regulation of transcripti
on from RNA polymerase II
promoter involved in myo
cardial precursor cell di
fferentiation
ISS biological_process
GO:0003273 cell migration involved i
n endocardial cushion for
mation
ISS biological_process
GO:0003344 pericardium morphogenesis
ISS biological_process
GO:0004857 enzyme inhibitor activity
ISS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005634 nucleus
ISS cellular_component
GO:0005634 nucleus
ISS cellular_component
GO:0005634 nucleus
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005912 adherens junction
ISS cellular_component
GO:0006355 regulation of transcripti
on, DNA-templated
TAS biological_process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
TAS biological_process
GO:0006955 immune response
NAS biological_process
GO:0007219 Notch signaling pathway
TAS biological_process
GO:0007219 Notch signaling pathway
IMP biological_process
GO:0007219 Notch signaling pathway
TAS biological_process
GO:0007221 positive regulation of tr
anscription of Notch rece
ptor target
ISS biological_process
GO:0007368 determination of left/rig
ht symmetry
ISS biological_process
GO:0007507 heart development
IMP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0010718 positive regulation of ep
ithelial to mesenchymal t
ransition
IMP biological_process
GO:0010812 negative regulation of ce
ll-substrate adhesion
IDA biological_process
GO:0010832 negative regulation of my
otube differentiation
ISS biological_process
GO:0014031 mesenchymal cell developm
ent
ISS biological_process
GO:0016324 apical plasma membrane
ISS cellular_component
GO:0019899 enzyme binding
ISS molecular_function
GO:0030279 negative regulation of os
sification
ISS biological_process
GO:0030335 positive regulation of ce
ll migration
ISS biological_process
GO:0030513 positive regulation of BM
P signaling pathway
ISS biological_process
GO:0030514 negative regulation of BM
P signaling pathway
ISS biological_process
GO:0035148 tube formation
IMP biological_process
GO:0035924 cellular response to vasc
ular endothelial growth f
actor stimulus
IDA biological_process
GO:0043086 negative regulation of ca
talytic activity
ISS biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0045662 negative regulation of my
oblast differentiation
IMP biological_process
GO:0045668 negative regulation of os
teoblast differentiation
ISS biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046427 positive regulation of JA
K-STAT cascade
ISS biological_process
GO:0048711 positive regulation of as
trocyte differentiation
ISS biological_process
GO:0048715 negative regulation of ol
igodendrocyte differentia
tion
ISS biological_process
GO:0050768 negative regulation of ne
urogenesis
ISS biological_process
GO:0055008 cardiac muscle tissue mor
phogenesis
ISS biological_process
GO:0060045 positive regulation of ca
rdiac muscle cell prolife
ration
ISS biological_process
GO:0060253 negative regulation of gl
ial cell proliferation
ISS biological_process
GO:0060271 cilium assembly
ISS biological_process
GO:0060317 cardiac epithelial to mes
enchymal transition
ISS biological_process
GO:0060411 cardiac septum morphogene
sis
ISS biological_process
GO:0060412 ventricular septum morpho
genesis
IMP biological_process
GO:0060842 arterial endothelial cell
differentiation
ISS biological_process
GO:0060843 venous endothelial cell d
ifferentiation
ISS biological_process
GO:0060948 cardiac vascular smooth m
uscle cell development
ISS biological_process
GO:0060956 endocardial cell differen
tiation
ISS biological_process
GO:0060979 vasculogenesis involved i
n coronary vascular morph
ogenesis
ISS biological_process
GO:0060982 coronary artery morphogen
esis
ISS biological_process
GO:0061314 Notch signaling involved
in heart development
IMP biological_process
GO:0061314 Notch signaling involved
in heart development
IMP biological_process
GO:0061384 heart trabecula morphogen
esis
ISS biological_process
GO:0061419 positive regulation of tr
anscription from RNA poly
merase II promoter in res
ponse to hypoxia
ISS biological_process
GO:0071372 cellular response to foll
icle-stimulating hormone
stimulus
IDA biological_process
GO:0090051 negative regulation of ce
ll migration involved in
sprouting angiogenesis
IDA biological_process
GO:0097150 neuronal stem cell popula
tion maintenance
IEP biological_process
GO:1901201 regulation of extracellul
ar matrix assembly
ISS biological_process
GO:2000737 negative regulation of st
em cell differentiation
IMP biological_process
GO:2000811 negative regulation of an
oikis
IMP biological_process
GO:2000974 negative regulation of pr
o-B cell differentiation
ISS biological_process
GO:2001027 negative regulation of en
dothelial cell chemotaxis
IDA biological_process

KEGG pathways

hsa05206  MicroRNAs in cancer
hsa05224  Breast cancer
hsa01522  Endocrine resistance
hsa04919  Thyroid hormone signaling pathway
hsa04658  Th1 and Th2 cell differentiation
hsa05020  Prion diseases
hsa04320  Dorso-ventral axis formation
hsa04330  Notch signaling pathway

Diseases

Associated diseases References
Adams-Oliver syndrome KEGG: H01413
Bicuspid aortic valve KEGG: H00554
Cancer PMID: 16707600
Endometriosis PMID: 25546156
Female infertility PMID: 25034535
Endometriosis INFBASE25546156
T lymphoblastic leukemia KEGG: H00002

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25546156 Endometrio
sis


Female infertility NOTCH1
NOTCH4
JAGGED2
DLL4
HES5
HEY1
Show abstract