Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 182
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol JAG1   Gene   UCSC   Ensembl
Aliases AGS, AGS1, AHD, AWS, CD339, HJ1, JAGL1
Gene name jagged 1
Alternate names protein jagged-1,
Gene location 20p12.2 (10674045: 10637683)     Exons: 28     NC_000020.11
Gene summary(Entrez) The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Jul 2008]
OMIM 601920

Protein Summary

Protein general information P78504  

Name: Protein jagged 1 (Jagged1) (hJ1) (CD antigen CD339)

Length: 1218  Mass: 133,799

Tissue specificity: Widely expressed in adult and fetal tissues. In cervix epithelium expressed in undifferentiated subcolumnar reserve cells and squamous metaplasia. Expression is up-regulated in cervical squamous cell carcinoma. Expressed in bone marrow

Sequence MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARNPGDRKCTRDECDTYF
KVCLKEYQSRVTAGGPCSFGSGSTPVIGGNTFNLKASRGNDRNRIVLPFSFAWPRSYTLLVEAWDSSNDTVQPDS
IIEKASHSGMINPSRQWQTLKQNTGVAHFEYQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWM
GPECNRAICRQGCSPKHGSCKLPGDCRCQYGWQGLYCDKCIPHPGCVHGICNEPWQCLCETNWGGQLCDKDLNYC
GTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPNCEIAEHACLSDPCHNRGSCKETSLGFECECSPGWTGPTCSTNI
DDCSPNNCSHGGTCQDLVNGFKCVCPPQWTGKTCQLDANECEAKPCVNAKSCKNLIASYYCDCLPGWMGQNCDIN
INDCLGQCQNDASCRDLVNGYRCICPPGYAGDHCERDIDECASNPCLNGGHCQNEINRFQCLCPTGFSGNLCQLD
IDYCEPNPCQNGAQCYNRASDYFCKCPEDYEGKNCSHLKDHCRTTPCEVIDSCTVAMASNDTPEGVRYISSNVCG
PHGKCKSQSGGKFTCDCNKGFTGTYCHENINDCESNPCRNGGTCIDGVNSYKCICSDGWEGAYCETNINDCSQNP
CHNGGTCRDLVNDFYCDCKNGWKGKTCHSRDSQCDEATCNNGGTCYDEGDAFKCMCPGGWEGTTCNIARNSSCLP
NPCHNGGTCVVNGESFTCVCKEGWEGPICAQNTNDCSPHPCYNSGTCVDGDNWYRCECAPGFAGPDCRININECQ
SSPCAFGATCVDEINGYRCVCPPGHSGAKCQEVSGRPCITMGSVIPDGAKWDDDCNTCQCLNGRIACSKVWCGPR
PCLLHKGHSECPSGQSCIPILDDQCFVHPCTGVGECRSSSLQPVKTKCTSDSYYQDNCANITFTFNKEMMSPGLT
TEHICSELRNLNILKNVSAEYSIYIACEPSPSANNEIHVAISAEDIRDDGNPIKEITDKIIDLVSKRDGNSSLIA
AVAEVRVQRRPLKNRTDFLVPLLSSVLTVAWICCLVTAFYWCLRKRRKPGSHTHSASEDNTTNNVREQLNQIKNP
IEKHGANTVPIKDYENKNSKMSKIRTHNSEVEEDDMDKHQQKARFAKQPAYTLVDREEKPPNGTPTKHPNWTNKQ
DNRDLESAQSLNRMEYIV
Structural information
Protein Domains
DSL. (185-229)
EGF-like (230-263)
EGF-like (264-294)
({ECO:0000255|PROSITE-ProRule:PRU00076}-)
EGF-like (296-334)
Interpro:  IPR001774 IPR001881 IPR013032 IPR000742 IPR000152 IPR018097 IPR009030 IPR026219 IPR011651 IPR001007
Prosite:   PS00010 PS51051 PS00022 PS01186 PS50026 PS01187

Pfam:  
PF01414 PF00008 PF07645 PF12661 PF07657

PDB:  
2KB9 2VJ2 4CBZ 4CC0 4CC1 4XI7 5BO1
PDBsum:   2KB9 2VJ2 4CBZ 4CC0 4CC1 4XI7 5BO1

DIP:  
46371
MINT:   2804836
STRING:   ENSP00000254958;
Other Databases GeneCards:  JAG1;  Malacards:  JAG1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001525 angiogenesis
NAS biological_process
GO:0001709 cell fate determination
NAS biological_process
GO:0001974 blood vessel remodeling
IEA biological_process
GO:0002011 morphogenesis of an epith
elial sheet
IEA biological_process
GO:0002456 T cell mediated immunity
IMP biological_process
GO:0003184 pulmonary valve morphogen
esis
IMP biological_process
GO:0003184 pulmonary valve morphogen
esis
IMP biological_process
GO:0003215 cardiac right ventricle m
orphogenesis
ISS biological_process
GO:0005112 Notch binding
IPI molecular_function
GO:0005112 Notch binding
NAS molecular_function
GO:0005198 structural molecule activ
ity
NAS molecular_function
GO:0005509 calcium ion binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
NAS cellular_component
GO:0005886 plasma membrane
IDA 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:0005887 integral component of pla
sma membrane
NAS cellular_component
GO:0005912 adherens junction
ISS cellular_component
GO:0007219 Notch signaling pathway
IMP biological_process
GO:0007219 Notch signaling pathway
NAS biological_process
GO:0007219 Notch signaling pathway
TAS biological_process
GO:0007219 Notch signaling pathway
TAS biological_process
GO:0007220 Notch receptor processing
TAS biological_process
GO:0007399 nervous system developmen
t
NAS biological_process
GO:0008083 growth factor activity
NAS molecular_function
GO:0016020 membrane
TAS cellular_component
GO:0016324 apical plasma membrane
ISS cellular_component
GO:0030097 hemopoiesis
NAS biological_process
GO:0030216 keratinocyte differentiat
ion
NAS biological_process
GO:0030334 regulation of cell migrat
ion
NAS biological_process
GO:0032495 response to muramyl dipep
tide
IEA biological_process
GO:0035909 aorta morphogenesis
ISS biological_process
GO:0042127 regulation of cell prolif
eration
NAS biological_process
GO:0042491 auditory receptor cell di
fferentiation
IEA biological_process
GO:0045445 myoblast differentiation
NAS biological_process
GO:0045446 endothelial cell differen
tiation
NAS biological_process
GO:0045599 negative regulation of fa
t cell differentiation
IEA biological_process
GO:0045639 positive regulation of my
eloid cell differentiatio
n
IEA biological_process
GO:0045665 negative regulation of ne
uron differentiation
IEA biological_process
GO:0045669 positive regulation of os
teoblast differentiation
IEA biological_process
GO:0045747 positive regulation of No
tch signaling pathway
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0060411 cardiac septum morphogene
sis
ISS biological_process
GO:0061073 ciliary body morphogenesi
s
IEA biological_process
GO:0061156 pulmonary artery morphoge
nesis
IMP biological_process
GO:0061309 cardiac neural crest cell
development involved in
outflow tract morphogenes
is
ISS biological_process
GO:0061314 Notch signaling involved
in heart development
IMP biological_process
GO:0061314 Notch signaling involved
in heart development
IC biological_process
GO:0061444 endocardial cushion cell
development
ISS biological_process
GO:0072006 nephron development
ISS biological_process
GO:0072015 glomerular visceral epith
elial cell development
ISS biological_process
GO:0072017 distal tubule development
IEA biological_process
GO:0072070 loop of Henle development
IEA biological_process
GO:0097150 neuronal stem cell popula
tion maintenance
IEP biological_process
GO:2000737 negative regulation of st
em cell differentiation
IMP biological_process
GO:0001525 angiogenesis
NAS biological_process
GO:0001709 cell fate determination
NAS biological_process
GO:0001974 blood vessel remodeling
IEA biological_process
GO:0002011 morphogenesis of an epith
elial sheet
IEA biological_process
GO:0002456 T cell mediated immunity
IMP biological_process
GO:0003184 pulmonary valve morphogen
esis
IMP biological_process
GO:0003184 pulmonary valve morphogen
esis
IMP biological_process
GO:0003215 cardiac right ventricle m
orphogenesis
IEA biological_process
GO:0003215 cardiac right ventricle m
orphogenesis
ISS biological_process
GO:0005112 Notch binding
IEA molecular_function
GO:0005112 Notch binding
IEA molecular_function
GO:0005112 Notch binding
IPI molecular_function
GO:0005112 Notch binding
NAS molecular_function
GO:0005198 structural molecule activ
ity
NAS molecular_function
GO:0005509 calcium ion binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
NAS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IDA 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:0005887 integral component of pla
sma membrane
NAS cellular_component
GO:0005912 adherens junction
IEA cellular_component
GO:0005912 adherens junction
ISS cellular_component
GO:0007154 cell communication
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
IMP biological_process
GO:0007219 Notch signaling pathway
NAS biological_process
GO:0007219 Notch signaling pathway
TAS biological_process
GO:0007219 Notch signaling pathway
TAS biological_process
GO:0007220 Notch receptor processing
TAS biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0007399 nervous system developmen
t
NAS biological_process
GO:0008083 growth factor activity
NAS molecular_function
GO:0009887 animal organ morphogenesi
s
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
TAS 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:0030097 hemopoiesis
NAS biological_process
GO:0030216 keratinocyte differentiat
ion
NAS biological_process
GO:0030334 regulation of cell migrat
ion
NAS biological_process
GO:0032495 response to muramyl dipep
tide
IEA biological_process
GO:0035909 aorta morphogenesis
IEA biological_process
GO:0035909 aorta morphogenesis
ISS biological_process
GO:0042127 regulation of cell prolif
eration
IEA biological_process
GO:0042127 regulation of cell prolif
eration
NAS biological_process
GO:0042491 auditory receptor cell di
fferentiation
IEA biological_process
GO:0043010 camera-type eye developme
nt
IEA biological_process
GO:0045177 apical part of cell
IEA cellular_component
GO:0045445 myoblast differentiation
NAS biological_process
GO:0045446 endothelial cell differen
tiation
NAS biological_process
GO:0045596 negative regulation of ce
ll differentiation
IEA biological_process
GO:0045599 negative regulation of fa
t cell differentiation
IEA biological_process
GO:0045639 positive regulation of my
eloid cell differentiatio
n
IEA biological_process
GO:0045665 negative regulation of ne
uron differentiation
IEA biological_process
GO:0045669 positive regulation of os
teoblast differentiation
IEA biological_process
GO:0045747 positive regulation of No
tch signaling pathway
IEA biological_process
GO:0045747 positive regulation of No
tch signaling pathway
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
IMP biological_process
GO:0048839 inner ear development
IEA biological_process
GO:0060411 cardiac septum morphogene
sis
IEA biological_process
GO:0060411 cardiac septum morphogene
sis
ISS biological_process
GO:0061073 ciliary body morphogenesi
s
IEA biological_process
GO:0061156 pulmonary artery morphoge
nesis
IMP biological_process
GO:0061309 cardiac neural crest cell
development involved in
outflow tract morphogenes
is
IEA biological_process
GO:0061309 cardiac neural crest cell
development involved in
outflow tract morphogenes
is
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
IC biological_process
GO:0061444 endocardial cushion cell
development
IEA biological_process
GO:0061444 endocardial cushion cell
development
ISS biological_process
GO:0072006 nephron development
IEA biological_process
GO:0072006 nephron development
ISS biological_process
GO:0072015 glomerular visceral epith
elial cell development
IEA biological_process
GO:0072015 glomerular visceral epith
elial cell development
ISS biological_process
GO:0072017 distal tubule development
IEA biological_process
GO:0072070 loop of Henle development
IEA biological_process
GO:0097150 neuronal stem cell popula
tion maintenance
IEP biological_process
GO:2000737 negative regulation of st
em cell differentiation
IMP biological_process
GO:0001525 angiogenesis
NAS biological_process
GO:0001709 cell fate determination
NAS biological_process
GO:0002456 T cell mediated immunity
IMP biological_process
GO:0003184 pulmonary valve morphogen
esis
IMP biological_process
GO:0003184 pulmonary valve morphogen
esis
IMP biological_process
GO:0003215 cardiac right ventricle m
orphogenesis
ISS biological_process
GO:0005112 Notch binding
IPI molecular_function
GO:0005112 Notch binding
NAS molecular_function
GO:0005198 structural molecule activ
ity
NAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
NAS cellular_component
GO:0005886 plasma membrane
IDA 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:0005887 integral component of pla
sma membrane
NAS cellular_component
GO:0005912 adherens junction
ISS cellular_component
GO:0007219 Notch signaling pathway
IMP biological_process
GO:0007219 Notch signaling pathway
NAS biological_process
GO:0007219 Notch signaling pathway
TAS biological_process
GO:0007219 Notch signaling pathway
TAS biological_process
GO:0007220 Notch receptor processing
TAS biological_process
GO:0007399 nervous system developmen
t
NAS biological_process
GO:0008083 growth factor activity
NAS molecular_function
GO:0016020 membrane
TAS cellular_component
GO:0016324 apical plasma membrane
ISS cellular_component
GO:0030097 hemopoiesis
NAS biological_process
GO:0030216 keratinocyte differentiat
ion
NAS biological_process
GO:0030334 regulation of cell migrat
ion
NAS biological_process
GO:0035909 aorta morphogenesis
ISS biological_process
GO:0042127 regulation of cell prolif
eration
NAS biological_process
GO:0045445 myoblast differentiation
NAS biological_process
GO:0045446 endothelial cell differen
tiation
NAS biological_process
GO:0045747 positive regulation of No
tch signaling pathway
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IMP biological_process
GO:0060411 cardiac septum morphogene
sis
ISS biological_process
GO:0061156 pulmonary artery morphoge
nesis
IMP biological_process
GO:0061309 cardiac neural crest cell
development involved in
outflow tract morphogenes
is
ISS biological_process
GO:0061314 Notch signaling involved
in heart development
IMP biological_process
GO:0061314 Notch signaling involved
in heart development
IC biological_process
GO:0061444 endocardial cushion cell
development
ISS biological_process
GO:0072006 nephron development
ISS biological_process
GO:0072015 glomerular visceral epith
elial cell development
ISS biological_process
GO:0097150 neuronal stem cell popula
tion maintenance
IEP biological_process
GO:2000737 negative regulation of st
em cell differentiation
IMP biological_process

KEGG pathways

hsa05224  Breast cancer
hsa04668  TNF signaling pathway
hsa01522  Endocrine resistance
hsa04371  Apelin signaling pathway
hsa04658  Th1 and Th2 cell differentiation
hsa04330  Notch signaling pathway

Diseases

Associated diseases References
Alagille syndrome KEGG: H00551, OMIM: 601920
Alzheimer's disease PMID: 19204726
Congenital heart defects OMIM: 601920
Endometriosis PMID: 24188612
Leukoencephalopathy PMID: 17368936
Multiple sclerosis PMID: 16934875
Endometriosis INFBASE24188612
Tetralogy of Fallot KEGG: H00549, OMIM: 601920

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24188612 Endometrio
sis

32 (18 with end
ometriosis, 14
controls)
AKT1
TYMP
JAG1
LAMA5
TIMP-1
Show abstract