Gene
kitb
- ID
- ZDB-GENE-050916-2
- Name
- KIT proto-oncogene, receptor tyrosine kinase b
- Symbol
- kitb Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have growth factor binding activity and transmembrane receptor protein tyrosine kinase activity. Involved in embryonic hemopoiesis. 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 male organism; mucus secreting cell; nervous system; otic vesicle; and ventral mesoderm. Orthologous to human KIT (KIT proto-oncogene, receptor tyrosine kinase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cssl:d836 (14 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Mahony et al., 2018
- 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 | IPR013098 | Immunoglobulin I-set |
| Domain | IPR020635 | Tyrosine-protein kinase, catalytic domain |
| Family | IPR027263 | Mast/stem cell growth factor receptor |
| Family | IPR042495 | Platelet-derived growth factor receptor-like protein |
| 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 I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Mast/stem cell growth factor receptor | Platelet-derived growth factor receptor-like protein | 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:Q4PKP5
|
346 | ||||||||||||||||
|
UniProtKB:A4JYS7
|
205 | ||||||||||||||||
|
UniProtKB:B8A5K6
|
957 | ||||||||||||||||
|
UniProtKB:Q5EGE5
|
227 |
Interactions and Pathways
No data available
Plasmids