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Map2k1 Gene Detail
Summary
  • Symbol
    Map2k1
  • Name
    mitogen-activated protein kinase kinase 1
  • Synonyms
    MAP kinase kinase 1, Mek1, Prkmk1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346866
    NCBI Gene: 26395
  • Gene Overview
    MyGene.info: MAP2K1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr9:64185770-64253631 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      67862 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 34.55 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    MAP2K1, mitogen-activated protein kinase kinase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MAP2K1, mitogen-activated protein kinase kinase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CFC3, MAPKK1, MEK1, MKK1, PRKMK1
  • Links
    NCBI Gene ID: 5604
    neXtProt AC: NX_Q02750
    UniProt: Q02750

  • Chr Location
    15q22.31; chr15:66386873-66491544 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Map2k1 mouse models; 2 with human MAP2K1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    36 phenotypes from 7 alleles in 13 genetic backgrounds
    49 phenotypes from multigenic genotypes
    68 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous inactivation of this gene leads to reduced embryo size and midgestational lethality due to impaired development and hypovascularization of the placenta with decreased labyrinth cell proliferation and enhanced cell apoptosis. Mutant MEFs fail to exhibit fibronectin-induced migration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    122
  • GO References
    21
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    184
  • Tissues
    151
  • cDNA Data
    17
  • Literature Summary
    39
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000016895 VEGA Gene Model | MGI Sequence Detail 67862 C57BL/6J ±  kb
    transcript OTTMUST00000040998 VEGA | MGI Sequence Detail 2436 Not Applicable  
    polypeptide OTTMUSP00000018355 VEGA | MGI Sequence Detail 393 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      402 from dbSNP Build 142
    • RFLP
      1
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 17
      Primer pair 2
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-19441, MGD-MRK-19443, MGI:102562
    References
    more
    • Summaries
      All 192
      Developmental Gene Expression 39
      Diseases 1
      Gene Ontology 21
      Phenotypes 68
    • Earliest
      J:25190 Crews CM, et al., The primary structure of MEK, a protein kinase that phosphorylates the ERK gene product. Science. 1992 Oct 16;258(5081):478-80
    • Latest
      J:261678 Aoidi R, et al., Mek1(Y130C) mice recapitulate aspects of human cardio-facio-cutaneous syndrome. Dis Model Mech. 2018 Mar 13;11(3)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/18/2018
    MGI 6.12     		The Jackson Laboratory