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 have growth factor binding activity and transmembrane receptor protein tyrosine kinase activity. Involved in several processes, including melanocyte apoptotic process; melanocyte differentiation; and melanocyte migration. Predicted to localize to integral component of plasma membrane and receptor complex. Human ortholog(s) of this gene implicated in several diseases, including acute myeloid leukemia; gastrointestinal stromal tumor; germ cell cancer (multiple); mastocytosis; and piebaldism. Is expressed in several structures, including digestive system; integument; mesoderm; nervous system; and neural crest. 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