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

    Gene ID: 4214, updated on 21-Apr-2019

    Summary

    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
    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

    Genomic context

    See MAP3K1 in Genome Data Viewer
    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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 
    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
     
    cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    protein phosphorylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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_005921.2NP_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, ENST00000399503.4
      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

    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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