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

Gene ID: 5604, updated on 29-Nov-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
109.20201120 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 population 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 109.20201120

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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