MAP3K1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MAP3K1 (HGNC:6848) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
mitogen-activated protein kinase kinase kinase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MEKK1
Alias symbols
MEKK, MAPKKK1
%HI
13.53(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.36(Read more about gnomAD LOEUF score)
Cytoband
5q11.2
Genomic Coordinates
GRCh37/hg19: chr5:56111376-56191979 NCBI Ensembl UCSC
GRCh38/hg38: chr5:56815549-56896152 NCBI Ensembl UCSC
MANE Select Transcript
NM_005921.2 ENST00000399503.4 (Read more about MANE Select)
Function
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). {ECO:0000269|PubMed:17761173, ECO:0000269|PubMed:9808624}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-3490
ClinGen Curation ID:
CCID:007434
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2013

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Mutations in MAP3K1 have been associated with 46,XY disorders of sex development. Pearlman et al. 2010: 3 coding missense mutations and one variant in the polypyrimidine track of the splice-acceptor site in intron 2 (c.634-8T>A) in MAP3K1 are described in two unrelated families with 46, XY disorders of sex development (DSD) and two of 11 sporadic cases of 46,XY DSD. The intron 2 variant resulted in both wild-type and aberrant splice variants. In cultured primary lymphoblastoid cells from three of the cases, these mutations altered the phosphorylation of the downstream targets, p38 and/or ERK1/2, and enhanced binding of RHOA to the MAP3K1 complex. (PMID:21129722). At this time, there is no evidence to support the idea that haploinsufficiency of MAP3K1 results in a demonstrable human phenotype.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)