Gene: MAP3K1

Alternate names for this Gene: MAPKKK1|MEKK|MEKK 1|MEKK1|SRXY6

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q11.2

Description of this Gene: mitogen-activated protein kinase kinase kinase 1

Type of Gene: protein-coding

rs143853590 in MAP3K1 gene and 46,XY SEX REVERSAL 6 PMID 21129722 2010 Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

PMID 18947601 2006 Consensus statement on management of intersex disorders.

rs1017226 in MAP3K1 gene and Breast Carcinoma PMID 24493630 2014 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.

rs860580 in MAP3K1 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs387906788 in MAP3K1 gene and Overgrowth PMID 12786760 2003 Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis.

PMID 25383892 2015 Exome sequencing for the diagnosis of 46,XY disorders of sex development.

PMID 24135036 2014 Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling.

PMID 21129722 2010 Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

PMID 22171599 2012 Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects.