MAP3K1

Chr 5q11.2

mitogen-activated protein kinase kinase kinase 1

Aliases:: MEKK, MAPKKK1
MANE:: ENST00000399503.4

OMIM: 600982 ↗NCBI: 4214 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MAP3K1 · Q13233

v62025-08-01

Predicted Aligned Error matrix for MAP3K1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.8/ 100

Low

1,512 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)26%
Low(50–70)7%
Very low(< 50)49%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Differences in sex development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

46,XY sex reversal 6
0.77
46,XY partial gonadal dysgenesis
0.60
breast adenocarcinoma
0.55
breast carcinoma
0.53
ovarian cancer
0.53
prostate carcinoma
0.51
luminal A breast carcinoma
0.46
type 2 diabetes mellitus
0.41
breast cancer
0.40
Abnormality of the skeletal system
0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mitogen-activated protein kinase kinase kinase 1

Component of a protein kinase signal transduction cascade (PubMed:9808624). Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4 (PubMed:9808624). May phosphorylate the MAPK8/JNK1 kinase (PubMed:17761173). Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway (PubMed:9808624)