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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)