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 enable MAP kinase kinase activity. Predicted to be involved in MAPK cascade. Predicted to act upstream of or within protein phosphorylation. Is expressed in cardiac ventricle. Human ortholog(s) of this gene implicated in carcinoma (multiple); cardiofaciocutaneous syndrome 3; high grade glioma; and melorheostosis. 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 | MAP kinase kinase | 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 | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
map2k1-201
(1)
|
Ensembl | 2,093 nt |
Interactions and Pathways
No data available
Plasmids
No data available