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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
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: HomoloGene, HGNC
  • Synonyms
    CFC3, MAPKK1, MEK1, MKK1, PRKMK1
  • Links
    NCBI Gene ID: 5604
    neXtProt AC: NX_Q02750

  • Chr Location
    15q22.1-q22.33; chr15:66386873-66491544 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    2 with human MAP2K1 associations

Human Disease Mouse Models
       Cardiofaciocutaneous Syndrome 3; CFC3   OMIM: 615279
Noonan Syndrome 1; NS1   OMIM: 163950
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 6 alleles in 12 genetic backgrounds
    44 phenotypes from multigenic genotypes
    53 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    178
  • Chemically induced (other)
    1
  • Gene trapped
    168
  • Targeted
    5
  • Transgenic
    4
  • Genomic Mutations
    1 involving Map2k1
  • Incidental Mutations
    Mutagenetix , APF
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
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  • All GO Annotations
    103
  • GO References
    21
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
    178
  • Tissues
    149
  • cDNA Data
    16
  • Literature Summary
    36
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    402 from dbSNP Build 142
  • RFLP
    1
Protein
Information
less
  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000010125 dual specificity mitogen-activated protein kinase kinase 1
  • EC
    2.7.12.2
  • InterPro Domains
    IPR017441 Protein kinase, ATP binding site
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR008271 Serine/threonine-protein kinase, active site
Molecular
Reagents
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  • All nucleic 19
    cDNA 16
    Primer pair 2
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-19441, MGD-MRK-19443, MGI:102562
References
more
  • Summaries
    All 125
    Developmental Gene Expression 36
    Gene Ontology 21
    Phenotypes 53
  • 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:231817 Matsumoto S, et al., Motor Nerve Arborization Requires Proteolytic Domain of Damage-Induced Neuronal Endopeptidase (DINE) during Development. J Neurosci. 2016 Apr 27;36(17):4744-57
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
09/13/2016
MGI 6.05 		The Jackson Laboratory