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    MAP2K1 mitogen-activated protein kinase kinase 1 [ Homo sapiens (human) ]

    Gene ID: 5604, updated on 3-Jul-2020

    Summary

    Official Symbol
    MAP2K1provided by HGNC
    Official Full Name
    mitogen-activated protein kinase kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:6840
    See related
    Ensembl:ENSG00000169032 MIM:176872
    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
    MEL; CFC3; MEK1; MKK1; MAPKK1; PRKMK1
    Summary
    The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 34.3), fat (RPKM 20.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See MAP2K1 in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (66386912..66491544)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (66679182..66783882)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene TIMELESS interacting protein Neighboring gene small Cajal body-specific RNA 14 Neighboring gene ribosomal protein L9 pseudogene 25 Neighboring gene ATP synthase membrane subunit f pseudogene 6 Neighboring gene ribosomal protein L35a pseudogene 32 Neighboring gene small nuclear RNA activating complex polypeptide 5 Neighboring gene microRNA 4512 Neighboring gene small nucleolar RNA, C/D box 18C Neighboring gene ribosomal protein L4

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cardiofaciocutaneous syndrome 3
    MedGen: C3809006 OMIM: 615279 GeneReviews: Cardiofaciocutaneous Syndrome
    Compare labs
    Melorheostosis
    MedGen: C3149631 OMIM: 155950 GeneReviews: Not available
    Compare labs
    Noonan syndrome
    MedGen: C0028326 GeneReviews: Noonan Syndrome
    Compare labs
    Noonan syndrome 1
    MedGen: C4551602 OMIM: 163950 GeneReviews: Noonan Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2015-10-13)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2015-10-13)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The transcription factors and kinases c-Jun, JNK, MEK, p38 MAPK, STAT-3, JAK-1, TFII D, TFII F, eIF-4E, and RNA polymerase II are induced by HIV-1 gp120 PubMed
    Nef nef HIV-1 Nef induces phosphorylation of MEK1 at position serine 298, which depends on Pak and Rac activity. The SH3 region mutation 72PXXP/AXXA75 in Nef results in loss of Pak association which decreases Nef-induced MEK1 phosphorylation PubMed
    nef HIV-1 Nef causes the FMS N-glycosylation defect and induces relocalization of the GM130 by activating the p56Hck/MEK/ERK/GRASP65 phosphorylation cascade in the Golgi PubMed
    nef HIV-1 Nef expression in primary T cells upregulates MEK1/2 activities, which induces the increased phosphorylation of ERK1/2 PubMed
    Tat tat HIV-1 Tat activates PRKCQ (PKC-theta) kinase activity, which leads to RELA (NFkB), NRAS, RAF1, MAP2K1 (MEK1), MAP2K2 (MEK2), MAPK3 (ERK1), and MAPK1 (ERK2) activation, in Jurkat T cells that stably express Tat PubMed
    tat HIV-1 Tat increases phosphorylation of ERK1/2, JNK1/2, p38, AKT1, MEK-1, and STAT-1alpha in Muller glia PubMed
    tat HIV-1 Tat upregulates the expression of platelet-derived growth factor subunit B homodimer through activation of the PDGFR-B/MEK/NF-kappaB pathway in human brain microvascular pericytes PubMed
    tat HIV-1 Tat-mediated upregulation of ICAM-1 expression involves MEK1/2, JNK, and p38 MAPK proteins and downstream IKK2/NF-kappaB signaling pathways PubMed
    tat Tat and IFN-gamma synergistically induce the expression of CXCL10, which is inhibited by MEK1/2 inhibitor and the p38 mitogen-activated protein kinase (MAPK) inhibitor PubMed
    tat HIV-1 Tat in combination with KSHV kaposin A activates the MEK/ERK, STAT3, and PI3K/Akt signals in NIH3T3 cells PubMed
    tat HIV-1 Tat-peptide(48-60) inhibits AGC-family kinases (PKB, SGK1, S6K1, MSK1), CAMK-family kinases (CAMK1 and MELK) and a STE family kinase (MKK1) PubMed
    tat HIV-1 Tat activates mitogen-activated protein kinases ERK1 and ERK2 through the activation of MEK1 and MEK2, leading to induction of IL-8, IL-10, IP-10, iNOS, superoxide and TNF-alpha, as well as the activation of CREB and increased albumin permeability PubMed
    Vpr vpr Inhibition of MEK1,2 impairs HIV-1 Vpr-induced BID cleavage PubMed
    reverse transcriptase gag-pol MEK1 in HIV-1 producer cells is able to activate virion-associated MAPK in trans, and the activated MAPK facilitates efficient disengagement of the HIV-1 reverse transcription complex from the cell membrane and subsequent nuclear translocation PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    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 activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    MAP kinase kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MAP-kinase scaffold activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein C-terminus binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein N-terminus binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein serine/threonine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    protein serine/threonine/tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Bergmann glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    MAPK cascade TAS
    Traceable Author Statement
    more info
     
    activation of MAPK activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    activation of MAPK activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of MAPK activity TAS
    Traceable Author Statement
    more info
    PubMed 
    cell cycle arrest IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell motility IEA
    Inferred from Electronic Annotation
    more info
     
    cellular senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cerebellar cortex formation IEA
    Inferred from Electronic Annotation
    more info
     
    chemotaxis TAS
    Traceable Author Statement
    more info
    PubMed 
    epithelial cell proliferation involved in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    face development IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    labyrinthine layer development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    peptidyl-threonine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    placenta blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of production of miRNAs involved in gene silencing by miRNA IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of Golgi inheritance TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of axon regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of early endosome to late endosome transport TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of stress-activated MAPK cascade TAS
    Traceable Author Statement
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    thyroid gland development IEA
    Inferred from Electronic Annotation
    more info
     
    trachea formation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    early endosome TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    late endosome TAS
    Traceable Author Statement
    more info
    PubMed 
    microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    dual specificity mitogen-activated protein kinase kinase 1
    Names
    ERK activator kinase 1
    MAPK/ERK kinase 1
    MAPKK 1
    MEK 1
    protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1)
    NP_002746.1
    XP_011520085.1
    XP_016877900.1
    XP_016877901.1
    XP_016877902.1

    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_008305.1 RefSeqGene

      Range
      5001..109672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_725

    mRNA and Protein(s)

    1. NM_002755.4NP_002746.1  dual specificity mitogen-activated protein kinase kinase 1

      See identical proteins and their annotated locations for NP_002746.1

      Status: REVIEWED

      Source sequence(s)
      AK291500, AK312356, BG709050, CA419665, L11284
      Consensus CDS
      CCDS10216.1
      UniProtKB/Swiss-Prot
      Q02750
      UniProtKB/TrEMBL
      A4QPA9
      Related
      ENSP00000302486.4, ENST00000307102.9
      Conserved Domains (1) summary
      cd06650
      Location:62380
      PKc_MEK1; Catalytic domain of the dual-specificity Protein Kinase, Mitogen-Activated Protein (MAP)/Extracellular signal-Regulated Kinase (ERK) Kinase 1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      66386912..66491544
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022411.2XP_016877900.1  dual specificity mitogen-activated protein kinase kinase 1 isoform X2

      UniProtKB/Swiss-Prot
      Q02750
      Conserved Domains (2) summary
      smart00220
      Location:68335
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:62354
      PKc_like; Protein Kinases, catalytic domain
    2. XM_011521783.3XP_011520085.1  dual specificity mitogen-activated protein kinase kinase 1 isoform X1

      See identical proteins and their annotated locations for XP_011520085.1

      UniProtKB/TrEMBL
      B4DFY5
      Conserved Domains (1) summary
      cd06650
      Location:40358
      PKc_MEK1; Catalytic domain of the dual-specificity Protein Kinase, Mitogen-Activated Protein (MAP)/Extracellular signal-Regulated Kinase (ERK) Kinase 1
    3. XM_017022412.1XP_016877901.1  dual specificity mitogen-activated protein kinase kinase 1 isoform X3

    4. XM_017022413.1XP_016877902.1  dual specificity mitogen-activated protein kinase kinase 1 isoform X4

      UniProtKB/TrEMBL
      H3BRW9
      Related
      ENSP00000456438.1, ENST00000566326.1
      Conserved Domains (1) summary
      cl21453
      Location:8204
      PKc_like; Protein Kinases, catalytic domain
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