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MAP3K1 mitogen-activated protein kinase kinase kinase 1 [ Homo sapiens (human) ]

Gene ID: 4214, updated on 14-Apr-2018
Official Symbol
MAP3K1provided by HGNC
Official Full Name
mitogen-activated protein kinase kinase kinase 1provided by HGNC
Primary source
HGNC:HGNC:6848
See related
Ensembl:ENSG00000095015 MIM:600982; Vega:OTTHUMG00000059486
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MEKK; MEKK1; SRXY6; MEKK 1; MAPKKK1
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]
Expression
Ubiquitous expression in spleen (RPKM 8.6), skin (RPKM 8.4) and 25 other tissues See more
Orthologs
Location:
5q11.2
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (56815073..56896152)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (56110900..56191979)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene chromosome 5 open reading frame 67 Neighboring gene VISTA enhancer hs1638 Neighboring gene growth/differentiation factor 3 Neighboring gene uncharacterized LOC105378980 Neighboring gene SET domain containing 9 Neighboring gene MIER family member 3 Neighboring gene small nuclear ribonucleoprotein polypeptide B2 pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
46,XY sex reversal, type 6 Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-08-22)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-08-22)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
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.
NHGRI GWA Catalog
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
NHGRI GWA Catalog
Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.
NHGRI GWA Catalog
Genome-wide association study identifies five new breast cancer susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study identifies novel breast cancer susceptibility loci.
NHGRI GWA Catalog
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
MAP kinase kinase kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase activity TAS
Traceable Author Statement
more info
 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity EXP
Inferred from Experiment
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
MyD88-dependent toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
 
activation of MAPKK activity IEA
Inferred from Electronic Annotation
more info
 
activation of protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
cellular response to mechanical stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
protein phosphorylation NAS
Non-traceable Author Statement
more info
PubMed 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
 
signal transduction by protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
stress-activated protein kinase signaling cascade IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
mitogen-activated protein kinase kinase kinase 1
Names
MAP/ERK kinase kinase 1
MAPK/ERK kinase kinase 1
MEK kinase 1
mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
NP_005912.1
XP_016864973.1
XP_016864974.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031884.1 RefSeqGene

    Range
    5001..86080
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005921.1NP_005912.1  mitogen-activated protein kinase kinase kinase 1

    See identical proteins and their annotated locations for NP_005912.1

    Status: REVIEWED

    Source sequence(s)
    AA602425, AC008937, AF042838, BU194120, DA889202
    Consensus CDS
    CCDS43318.1
    UniProtKB/Swiss-Prot
    Q13233
    Related
    ENSP00000382423.3, OTTHUMP00000065818, ENST00000399503.3, OTTHUMT00000132309
    Conserved Domains (2) summary
    smart00220
    Location:12431508
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd06630
    Location:12421509
    STKc_MEKK1; Catalytic domain of the Protein Serine/Threonine Kinase, Mitogen-Activated Protein (MAP)/Extracellular signal-Regulated Kinase (ERK) Kinase Kinase 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    56815073..56896152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009485.1XP_016864974.1  mitogen-activated protein kinase kinase kinase 1 isoform X2

  2. XM_017009484.1XP_016864973.1  mitogen-activated protein kinase kinase kinase 1 isoform X1

RNA

  1. XR_001742068.2 RNA Sequence

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