| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... |
cpath:CPATH-LOCAL-510589,
cpath:CPATH-LOCAL-510589,
cpath:CPATH-LOCAL-510590,
cpath:CPATH-LOCAL-510590,
cpath:CPATH-LOCAL-510591,
cpath:CPATH-LOCAL-510591,
cpath:CPATH-LOCAL-510592,
cpath:CPATH-LOCAL-510592,
cpath:CPATH-LOCAL-510593,
cpath:CPATH-LOCAL-510593,
cpath:CPATH-LOCAL-510594,
cpath:CPATH-LOCAL-510594,
cpath:CPATH-LOCAL-510595,
cpath:CPATH-LOCAL-510595,
cpath:CPATH-LOCAL-516718,
cpath:CPATH-LOCAL-516718
|
| http://www.biopax.org/relea... |
Mast/stem cell growth factor receptor,
Mast/stem cell growth factor receptor
|
| http://www.biopax.org/relea... |
KIT_HUMAN,
KIT_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
2.7.10.1,
2.7.10.1,
CD117,
CD117,
Proto-oncogene c-Kit,
Proto-oncogene c-Kit,
SCFR,
SCFR,
Tyrosine-protein kinase Kit,
Tyrosine-protein kinase Kit
|
| http://www.biopax.org/relea... |
FUNCTION: This is the receptor for stem cell factor (mast cell growth factor). It has a tyrosine-protein kinase activity. Binding of the ligands leads to the autophosphorylation of KIT and its association with substrates such as phosphatidylinositol 3-kinase (Pi3K). CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. SUBUNIT: Interacts with APS. Interacts with MPDZ (via the tenth PDZ domain). Interacts with PTPRU and with FES/FPS. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P10721-1; Sequence=Displayed; Name=2; IsoId=P10721-2; Sequence=VSP_038385; DISEASE: Defects in KIT are a cause of piebald trait (PBT) [MIM:172800]. PBT is an autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. DISEASE: Defects in KIT are a cause of gastrointestinal stromal tumor (GIST) [MIM:606764]. DISEASE: Defects in KIT have been associated with testicular tumors (TEST) [MIM:273300]. A common solid malignancy in males. Germ cell tumors of the testis constitute 95% of all testicular neoplasms. SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. SIMILARITY: Contains 5 Ig-like C2-type (immunoglobulin-like) domains. SIMILARITY: Contains 1 protein kinase domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/KITID127.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KIT"; WEB RESOURCE: Name=Wikipedia; Note=CD117 entry; URL="http://en.wikipedia.org/wiki/CD117"; COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
FUNCTION: This is the receptor for stem cell factor (mast cell growth factor). It has a tyrosine-protein kinase activity. Binding of the ligands leads to the autophosphorylation of KIT and its association with substrates such as phosphatidylinositol 3-kinase (Pi3K). CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. SUBUNIT: Interacts with APS. Interacts with MPDZ (via the tenth PDZ domain). Interacts with PTPRU and with FES/FPS. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P10721-1; Sequence=Displayed; Name=2; IsoId=P10721-2; Sequence=VSP_038385; DISEASE: Defects in KIT are a cause of piebald trait (PBT) [MIM:172800]. PBT is an autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. DISEASE: Defects in KIT are a cause of gastrointestinal stromal tumor (GIST) [MIM:606764]. DISEASE: Defects in KIT have been associated with testicular tumors (TEST) [MIM:273300]. A common solid malignancy in males. Germ cell tumors of the testis constitute 95% of all testicular neoplasms. SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. SIMILARITY: Contains 5 Ig-like C2-type (immunoglobulin-like) domains. SIMILARITY: Contains 1 protein kinase domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/KITID127.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KIT"; WEB RESOURCE: Name=Wikipedia; Note=CD117 entry; URL="http://en.wikipedia.org/wiki/CD117"; COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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