Details for Gene MAP3K1

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 OLI766; OLI1515; OLI1510; OLI1563; OLI997
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

Found any issues with the data on this page? Report this entry.