Gene
kita
- ID
- ZDB-GENE-980526-464
- Name
- KIT proto-oncogene, receptor tyrosine kinase a
- Symbol
- kita Nomenclature History
- Previous Names
-
- c-kit
- kit
- spa-1 (1)
- spa
- sparse
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable growth factor binding activity and transmembrane receptor protein tyrosine kinase activity. Acts upstream of or within several processes, including melanocyte apoptotic process; melanocyte differentiation; and melanocyte migration. Predicted to be located in membrane. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including digestive system; gonad; mesoderm; nervous system; and neural crest. Human ortholog(s) of this gene implicated in several diseases, including gastrointestinal stromal tumor; germ cell cancer (multiple); mastocytosis; piebaldism; and renal cell carcinoma. Orthologous to human KIT (KIT proto-oncogene, receptor tyrosine kinase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 39 figures from 24 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cssl:d114 (33 images)
Wild Type Expression Summary
- All Phenotype Data
- 56 figures from 22 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| acute myeloid leukemia | Alliance | Leukemia, acute myeloid, somatic | 601626 |
| gastrointestinal stromal tumor | Alliance | Gastrointestinal stromal tumor, familial | 606764 |
| mastocytosis | Alliance | Mastocytosis, cutaneous | 154800 |
| mastocytosis | Alliance | Mastocytosis, systemic, somatic | 154800 |
| piebaldism | Alliance | Piebaldism | 172800 |
| testicular germ cell cancer | Alliance | Germ cell tumors, somatic | 273300 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008266 | Tyrosine-protein kinase, active site |
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Conserved_site | IPR001824 | Tyrosine-protein kinase, receptor class III, conserved site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin domain subtype |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR020635 | Tyrosine-protein kinase, catalytic domain |
| Family | IPR027263 | Mast/stem cell growth factor receptor |
| Family | IPR050122 | Receptor Tyrosine Kinase |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Immunoglobulin domain subtype | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Mast/stem cell growth factor receptor | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Receptor Tyrosine Kinase | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, receptor class III, conserved site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q8JFR5
|
976 | ||||||||||||||
|
UniProtKB:B3DGS5
|
981 | ||||||||||||||
|
UniProtKB:A0A8M3ALF9
|
977 |
Interactions and Pathways
Plasmids