Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7471
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol WNT1   Gene   UCSC   Ensembl
Aliases BMND16, INT1, OI15
Gene name Wnt family member 1
Alternate names proto-oncogene Wnt-1, proto-oncogene Int-1 homolog, wingless-type MMTV integration site family member 1, wingless-type MMTV integration site family, member 1 (oncogene INT1),
Gene location 12q13.12 (48978452: 48982612)     Exons: 4     NC_000012.12
Gene summary(Entrez) The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]
OMIM 164820

Protein Summary

Protein general information P04628  

Name: Proto oncogene Wnt 1 (Proto oncogene Int 1 homolog)

Length: 370  Mass: 40,982

Sequence MGLWALLPGWVSATLLLALAALPAALAANSSGRWWGIVNVASSTNLLTDSKSLQLVLEPSLQLLSRKQRRLIRQN
PGILHSVSGGLQSAVRECKWQFRNRRWNCPTAPGPHLFGKIVNRGCRETAFIFAITSAGVTHSVARSCSEGSIES
CTCDYRRRGPGGPDWHWGGCSDNIDFGRLFGREFVDSGEKGRDLRFLMNLHNNEAGRTTVFSEMRQECKCHGMSG
SCTVRTCWMRLPTLRAVGDVLRDRFDGASRVLYGNRGSNRASRAELLRLEPEDPAHKPPSPHDLVYFEKSPNFCT
YSGRLGTAGTAGRACNSSSPALDGCELLCCGRGHRTRTQRVTERCNCTFHWCCHVSCRNCTHTRVLHECL
Structural information
Interpro:  IPR005817 IPR009139 IPR018161
Prosite:   PS00246

Pfam:  
PF00110
STRING:   ENSP00000293549;
Other Databases GeneCards:  WNT1;  Malacards:  WNT1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000578 embryonic axis specificat
ion
ISS biological_process
GO:0001658 branching involved in ure
teric bud morphogenesis
IEA biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IEA biological_process
GO:0005109 frizzled binding
IBA molecular_function
GO:0005109 frizzled binding
IC molecular_function
GO:0005109 frizzled binding
NAS molecular_function
GO:0005125 cytokine activity
ISS 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:0005578 proteinaceous extracellul
ar matrix
IEA cellular_component
GO:0005615 extracellular space
IBA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005788 endoplasmic reticulum lum
en
TAS cellular_component
GO:0005796 Golgi lumen
TAS cellular_component
GO:0005796 Golgi lumen
TAS cellular_component
GO:0005796 Golgi lumen
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:0007267 cell-cell signaling
ISS biological_process
GO:0007520 myoblast fusion
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:0009611 response to wounding
IEP biological_process
GO:0009986 cell surface
IEA cellular_component
GO:0010592 positive regulation of la
mellipodium assembly
IMP biological_process
GO:0010812 negative regulation of ce
ll-substrate adhesion
IDA biological_process
GO:0016015 morphogen activity
TAS molecular_function
GO:0016055 Wnt signaling pathway
IDA biological_process
GO:0016055 Wnt signaling pathway
TAS biological_process
GO:0019904 protein domain specific b
inding
IEA molecular_function
GO:0021527 spinal cord association n
euron differentiation
IEA biological_process
GO:0021536 diencephalon development
IEA biological_process
GO:0021551 central nervous system mo
rphogenesis
ISS biological_process
GO:0021588 cerebellum formation
ISS biological_process
GO:0021797 forebrain anterior/poster
ior pattern specification
IEA biological_process
GO:0022004 midbrain-hindbrain bounda
ry maturation during brai
n development
IEA biological_process
GO:0022408 negative regulation of ce
ll-cell adhesion
IMP biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IEA biological_process
GO:0030514 negative regulation of BM
P signaling pathway
IMP biological_process
GO:0030579 ubiquitin-dependent SMAD
protein catabolic process
IEA biological_process
GO:0030666 endocytic vesicle membran
e
TAS cellular_component
GO:0030666 endocytic vesicle membran
e
TAS cellular_component
GO:0030901 midbrain development
ISS biological_process
GO:0031100 animal organ regeneration
IEA biological_process
GO:0033077 T cell differentiation in
thymus
IEA biological_process
GO:0033278 cell proliferation in mid
brain
IEA biological_process
GO:0042472 inner ear morphogenesis
IEA biological_process
GO:0042770 signal transduction in re
sponse to DNA damage
IDA biological_process
GO:0043568 positive regulation of in
sulin-like growth factor
receptor signaling pathwa
y
IDA biological_process
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0044336 canonical Wnt signaling p
athway involved in negati
ve regulation of apoptoti
c process
IMP biological_process
GO:0045165 cell fate commitment
IBA biological_process
GO:0045599 negative regulation of fa
t cell differentiation
ISS biological_process
GO:0045747 positive regulation of No
tch signaling pathway
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0048018 receptor agonist activity
IC molecular_function
GO:0048018 receptor agonist activity
NAS molecular_function
GO:0048146 positive regulation of fi
broblast proliferation
IMP biological_process
GO:0048664 neuron fate determination
IEA biological_process
GO:0048666 neuron development
IEA biological_process
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
ISS biological_process
GO:0060061 Spemann organizer formati
on
ISS biological_process
GO:0060070 canonical Wnt signaling p
athway
IMP biological_process
GO:0060070 canonical Wnt signaling p
athway
IMP biological_process
GO:0060070 canonical Wnt signaling p
athway
NAS biological_process
GO:0060070 canonical Wnt signaling p
athway
TAS biological_process
GO:0060071 Wnt signaling pathway, pl
anar cell polarity pathwa
y
TAS biological_process
GO:0060348 bone development
IMP biological_process
GO:0061184 positive regulation of de
rmatome development
IDA biological_process
GO:0070062 extracellular exosome
TAS cellular_component
GO:0070365 hepatocyte differentiatio
n
IEA biological_process
GO:0071375 cellular response to pept
ide hormone stimulus
IEA biological_process
GO:0071425 hematopoietic stem cell p
roliferation
IEA biological_process
GO:0090263 positive regulation of ca
nonical Wnt signaling pat
hway
IEA biological_process
GO:0090344 negative regulation of ce
ll aging
IDA biological_process
GO:1904886 beta-catenin destruction
complex disassembly
TAS biological_process
GO:1904953 Wnt signaling pathway inv
olved in midbrain dopamin
ergic neuron differentiat
ion
NAS biological_process
GO:1904953 Wnt signaling pathway inv
olved in midbrain dopamin
ergic neuron differentiat
ion
TAS biological_process
GO:1904954 canonical Wnt signaling p
athway involved in midbra
in dopaminergic neuron di
fferentiation
TAS biological_process
GO:1990403 embryonic brain developme
nt
IEA biological_process
GO:2000059 negative regulation of pr
otein ubiquitination invo
lved in ubiquitin-depende
nt protein catabolic proc
ess
IEA biological_process
GO:0000578 embryonic axis specificat
ion
IEA biological_process
GO:0000578 embryonic axis specificat
ion
ISS biological_process
GO:0001658 branching involved in ure
teric bud morphogenesis
IEA biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IEA biological_process
GO:0005102 receptor binding
IEA molecular_function
GO:0005109 frizzled binding
IBA molecular_function
GO:0005109 frizzled binding
IC molecular_function
GO:0005109 frizzled binding
NAS molecular_function
GO:0005125 cytokine activity
IEA molecular_function
GO:0005125 cytokine activity
ISS molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA 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:0005578 proteinaceous extracellul
ar matrix
IEA cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
IEA cellular_component
GO:0005615 extracellular space
IBA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005788 endoplasmic reticulum lum
en
TAS cellular_component
GO:0005796 Golgi lumen
TAS cellular_component
GO:0005796 Golgi lumen
TAS cellular_component
GO:0005796 Golgi lumen
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:0007267 cell-cell signaling
IEA biological_process
GO:0007267 cell-cell signaling
ISS biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0007520 myoblast fusion
IEA 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:0009611 response to wounding
IEP biological_process
GO:0009986 cell surface
IEA cellular_component
GO:0010592 positive regulation of la
mellipodium assembly
IMP biological_process
GO:0010812 negative regulation of ce
ll-substrate adhesion
IDA biological_process
GO:0014902 myotube differentiation
IEA biological_process
GO:0016015 morphogen activity
TAS molecular_function
GO:0016055 Wnt signaling pathway
IEA biological_process
GO:0016055 Wnt signaling pathway
IEA biological_process
GO:0016055 Wnt signaling pathway
IEA biological_process
GO:0016055 Wnt signaling pathway
IDA biological_process
GO:0016055 Wnt signaling pathway
TAS biological_process
GO:0019904 protein domain specific b
inding
IEA molecular_function
GO:0021527 spinal cord association n
euron differentiation
IEA biological_process
GO:0021536 diencephalon development
IEA biological_process
GO:0021549 cerebellum development
IEA biological_process
GO:0021551 central nervous system mo
rphogenesis
IEA biological_process
GO:0021551 central nervous system mo
rphogenesis
ISS biological_process
GO:0021588 cerebellum formation
IEA biological_process
GO:0021588 cerebellum formation
ISS biological_process
GO:0021797 forebrain anterior/poster
ior pattern specification
IEA biological_process
GO:0022004 midbrain-hindbrain bounda
ry maturation during brai
n development
IEA biological_process
GO:0022008 neurogenesis
IEA biological_process
GO:0022037 metencephalon development
IEA biological_process
GO:0022408 negative regulation of ce
ll-cell adhesion
IMP biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IEA biological_process
GO:0030514 negative regulation of BM
P signaling pathway
IMP biological_process
GO:0030579 ubiquitin-dependent SMAD
protein catabolic process
IEA biological_process
GO:0030666 endocytic vesicle membran
e
TAS cellular_component
GO:0030666 endocytic vesicle membran
e
TAS cellular_component
GO:0030901 midbrain development
IEA biological_process
GO:0030901 midbrain development
ISS biological_process
GO:0030917 midbrain-hindbrain bounda
ry development
IEA biological_process
GO:0031100 animal organ regeneration
IEA biological_process
GO:0033077 T cell differentiation in
thymus
IEA biological_process
GO:0033278 cell proliferation in mid
brain
IEA biological_process
GO:0042472 inner ear morphogenesis
IEA biological_process
GO:0042770 signal transduction in re
sponse to DNA damage
IDA biological_process
GO:0043568 positive regulation of in
sulin-like growth factor
receptor signaling pathwa
y
IDA biological_process
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0044336 canonical Wnt signaling p
athway involved in negati
ve regulation of apoptoti
c process
IMP biological_process
GO:0045165 cell fate commitment
IBA 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:0045599 negative regulation of fa
t cell differentiation
ISS biological_process
GO:0045747 positive regulation of No
tch signaling pathway
IDA 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:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0048018 receptor agonist activity
IC molecular_function
GO:0048018 receptor agonist activity
NAS molecular_function
GO:0048146 positive regulation of fi
broblast proliferation
IMP biological_process
GO:0048663 neuron fate commitment
IEA biological_process
GO:0048664 neuron fate determination
IEA biological_process
GO:0048666 neuron development
IEA biological_process
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
IEA biological_process
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
ISS biological_process
GO:0060061 Spemann organizer formati
on
IEA biological_process
GO:0060061 Spemann organizer formati
on
ISS biological_process
GO:0060070 canonical Wnt signaling p
athway
IEA biological_process
GO:0060070 canonical Wnt signaling p
athway
IMP biological_process
GO:0060070 canonical Wnt signaling p
athway
IMP biological_process
GO:0060070 canonical Wnt signaling p
athway
NAS biological_process
GO:0060070 canonical Wnt signaling p
athway
TAS biological_process
GO:0060071 Wnt signaling pathway, pl
anar cell polarity pathwa
y
TAS biological_process
GO:0060348 bone development
IMP biological_process
GO:0061184 positive regulation of de
rmatome development
IDA biological_process
GO:0070062 extracellular exosome
TAS cellular_component
GO:0070365 hepatocyte differentiatio
n
IEA biological_process
GO:0071375 cellular response to pept
ide hormone stimulus
IEA biological_process
GO:0071425 hematopoietic stem cell p
roliferation
IEA biological_process
GO:0071542 dopaminergic neuron diffe
rentiation
IEA biological_process
GO:0090263 positive regulation of ca
nonical Wnt signaling pat
hway
IEA biological_process
GO:0090344 negative regulation of ce
ll aging
IDA biological_process
GO:1904886 beta-catenin destruction
complex disassembly
TAS biological_process
GO:1904953 Wnt signaling pathway inv
olved in midbrain dopamin
ergic neuron differentiat
ion
NAS biological_process
GO:1904953 Wnt signaling pathway inv
olved in midbrain dopamin
ergic neuron differentiat
ion
TAS biological_process
GO:1904954 canonical Wnt signaling p
athway involved in midbra
in dopaminergic neuron di
fferentiation
TAS biological_process
GO:1990403 embryonic brain developme
nt
IEA biological_process
GO:2000059 negative regulation of pr
otein ubiquitination invo
lved in ubiquitin-depende
nt protein catabolic proc
ess
IEA biological_process
GO:0000578 embryonic axis specificat
ion
ISS biological_process
GO:0005109 frizzled binding
IBA molecular_function
GO:0005109 frizzled binding
IC molecular_function
GO:0005109 frizzled binding
NAS molecular_function
GO:0005125 cytokine activity
ISS 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:0005615 extracellular space
IBA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005788 endoplasmic reticulum lum
en
TAS cellular_component
GO:0005796 Golgi lumen
TAS cellular_component
GO:0005796 Golgi lumen
TAS cellular_component
GO:0005796 Golgi lumen
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:0007267 cell-cell signaling
ISS 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:0009611 response to wounding
IEP biological_process
GO:0010592 positive regulation of la
mellipodium assembly
IMP biological_process
GO:0010812 negative regulation of ce
ll-substrate adhesion
IDA biological_process
GO:0016015 morphogen activity
TAS molecular_function
GO:0016055 Wnt signaling pathway
IDA biological_process
GO:0016055 Wnt signaling pathway
TAS biological_process
GO:0021551 central nervous system mo
rphogenesis
ISS biological_process
GO:0021588 cerebellum formation
ISS biological_process
GO:0022408 negative regulation of ce
ll-cell adhesion
IMP biological_process
GO:0030514 negative regulation of BM
P signaling pathway
IMP biological_process
GO:0030666 endocytic vesicle membran
e
TAS cellular_component
GO:0030666 endocytic vesicle membran
e
TAS cellular_component
GO:0030901 midbrain development
ISS biological_process
GO:0042770 signal transduction in re
sponse to DNA damage
IDA biological_process
GO:0043568 positive regulation of in
sulin-like growth factor
receptor signaling pathwa
y
IDA biological_process
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0044336 canonical Wnt signaling p
athway involved in negati
ve regulation of apoptoti
c process
IMP biological_process
GO:0045165 cell fate commitment
IBA biological_process
GO:0045599 negative regulation of fa
t cell differentiation
ISS biological_process
GO:0045747 positive regulation of No
tch signaling pathway
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IMP biological_process
GO:0048018 receptor agonist activity
IC molecular_function
GO:0048018 receptor agonist activity
NAS molecular_function
GO:0048146 positive regulation of fi
broblast proliferation
IMP biological_process
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
ISS biological_process
GO:0060061 Spemann organizer formati
on
ISS biological_process
GO:0060070 canonical Wnt signaling p
athway
IMP biological_process
GO:0060070 canonical Wnt signaling p
athway
IMP biological_process
GO:0060070 canonical Wnt signaling p
athway
NAS biological_process
GO:0060070 canonical Wnt signaling p
athway
TAS biological_process
GO:0060071 Wnt signaling pathway, pl
anar cell polarity pathwa
y
TAS biological_process
GO:0060348 bone development
IMP biological_process
GO:0061184 positive regulation of de
rmatome development
IDA biological_process
GO:0070062 extracellular exosome
TAS cellular_component
GO:0090344 negative regulation of ce
ll aging
IDA biological_process
GO:1904886 beta-catenin destruction
complex disassembly
TAS biological_process
GO:1904953 Wnt signaling pathway inv
olved in midbrain dopamin
ergic neuron differentiat
ion
NAS biological_process
GO:1904953 Wnt signaling pathway inv
olved in midbrain dopamin
ergic neuron differentiat
ion
TAS biological_process
GO:1904954 canonical Wnt signaling p
athway involved in midbra
in dopaminergic neuron di
fferentiation
TAS biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa05166  HTLV-I infection
hsa05205  Proteoglycans in cancer
hsa05224  Breast cancer
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04390  Hippo signaling pathway
hsa04150  mTOR signaling pathway
hsa04310  Wnt signaling pathway
hsa04916  Melanogenesis
hsa05217  Basal cell carcinoma

Diseases

Associated diseases References
Endometriosis PMID: 24661731
Endometriosis INFBASE24661731
Osteoporosis KEGG: H01593, OMIM: 164820

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24661731 Endometrio
sis

69 (30 with end
ometriosis, 39
women undergoin
g ICSI for male
infertility)
WNT4
WNT5a
WNT1
?-catenin
BMP4
Show abstract