Gene
map2k1
- ID
- ZDB-GENE-040426-2759
- Name
- mitogen-activated protein kinase kinase 1
- Symbol
- map2k1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have MAP kinase kinase activity and protein serine/threonine kinase activity. Predicted to be involved in several processes, including activation of MAPK activity; signal transduction by protein phosphorylation; and stress-activated protein kinase signaling cascade. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in cardiofaciocutaneous syndrome 3; malignant glioma; pancreatic adenocarcinoma; renal cell carcinoma; and small intestine adenocarcinoma. Is expressed in cardiac ventricle. Orthologous to human MAP2K1 (mitogen-activated protein kinase kinase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cardiofaciocutaneous syndrome 3 | Alliance | Cardiofaciocutaneous syndrome 3 | 615279 |
| melorheostosis | Alliance | Melorheostosis, isolated, somatic mosaic | 155950 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site |
|---|---|---|---|---|---|
|
UniProtKB:Q4V947
|
395 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
map2k1-201
(1)
|
Havana | 2093 nt |
Interactions and Pathways
No data available
Plasmids
No data available