MAP3K1 mitogen-activated protein kinase kinase kinase 1
Gene ID: 4214, updated on 10-Dec-2024Gene type: protein coding
Also known as: MEKK; MEKK1; SRXY6; MEKK 1; MAPKKK1
- See all available tests in GTR for this gene
- Go to complete Gene record for MAP3K1
- Go to Variation Viewer for MAP3K1 variants
Summary
The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 46,XY sex reversal 6 | See labs |
| A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. GeneReviews: Not available | |
| A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genome-wide association of body fat distribution in African ancestry populations suggests new loci. GeneReviews: Not available | |
| Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21. GeneReviews: Not available | |
| Genome-wide association study identifies five new breast cancer susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study identifies novel breast cancer susceptibility loci. GeneReviews: Not available | |
| Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. GeneReviews: Not available | |
| Large-scale genotyping identifies 41 new loci associated with breast cancer risk. GeneReviews: Not available | |
| Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2013-08-22) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2013-08-22) ClinGen Genome Curation Page |
Genomic context
- Location:
- 5q11.2
- Sequence:
- Chromosome: 5; NC_000005.10 (56815549..56896152)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAP3K1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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