GENE NAME | MAP3K1 |
CHROMOSOME | 5 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000095015 |
UNIPROT ACCESSION NUMBER | Q13233 |
GO MOLECULAR FUNCTION | ['protein kinase activity', 'zinc ion binding', 'protein kinase binding', 'protein serine/threonine kinase activity', 'ATP binding', 'MAP kinase kinase kinase activity', 'protein serine kinase activity', 'protein binding', 'protein serine/threonine/tyrosine kinase activity'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa04010; hsa04120; hsa04530; hsa04622; hsa04722; hsa04912; hsa04935; hsa05161; hsa05166; R-HSA-166016; R-HSA-166058; R-HSA-168138; R-HSA-168142; R-HSA-168176; R-HSA-168179; R-HSA-168181; R-HSA-168188; R-HSA-168249; R-HSA-168256; R-HSA-168898; R-HSA-168928; R-HSA-181438; R-HSA-2454202; R-HSA-2871796; R-HSA-933542; R-HSA-975138; R-HSA-975155; R-HSA-975871 |
5 combinations linked to MAP3K1 | OLI1515; OLI997; OLI1510; OLI766; OLI1563 |
5 variants linked to MAP3K1 | MAP3K1:c.710A>G, p.Gln237Arg; MAP3K1:c.2665G>C, p.Val889Leu; MAP3K1:c.3418A>G, p.Met1140Val; MAP3K1:c.3557A>G, p.Glu1186Gly; MAP3K1:c.1108C>T, p.Pro370Ser |
3 diseases linked to MAP3K1 | Androgen insensitivity syndrome; 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development |