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Map3k1 Gene Detail
Summary
  • Symbol
    Map3k1
  • Name
    mitogen-activated protein kinase kinase kinase 1
  • Synonyms
    lg, Mekk, MEKK1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346872
    NCBI Gene: 26401
  • Gene Overview
    MyGene.info: MAP3K1
Location & Maps
more
  • Sequence Map
    Chr13:111746428-111808993 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      62566 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 63.36 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    MAP3K1, mitogen-activated protein kinase kinase kinase 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    MAP3K1, mitogen-activated protein kinase kinase kinase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MAPKKK1, MEKK, MEKK1, MEKK 1, SRXY6
  • Links
    NCBI Gene ID: 4214
    neXtProt AC: NX_Q13233

  • Chr Location
    5q11.2; chr5:56815073-56896152 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 8056
    1 human;1 mouse;2 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: MAP3K1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human MAP3K1 associations

Human Disease Mouse Models
       46,xy Sex Reversal 6; SRXY6   OMIM: 613762
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 6 alleles in 7 genetic backgrounds
    3 phenotypes from multigenic genotypes
    43 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
    12
  • Chemically induced (ENU)
    1
  • Gene trapped
    5
  • Spontaneous
    1
  • Targeted
    5
  • Incidental Mutations
Mice homozygous for a spontaneous allele are born with one or both eyes open, defects in eye morphology, and defects in ear morphology and function. Mice homozygous for a knock-out allele are born with open eyes and exhibit increased response to aortic banding and blood vessel healing.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020184 VEGA Gene Model | MGI Sequence Detail 62566 C57BL/6J ±  kb
transcript OTTMUST00000047959 VEGA | MGI Sequence Detail 6978 Not Applicable  
polypeptide OTTMUSP00000021865 VEGA | MGI Sequence Detail 1493 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1051 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 10
    Genomic 1
    cDNA 5
    Primer pair 4

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-28141, MGI:104845
References
more
  • Summaries
    All 92
    Developmental Gene Expression 10
    Gene Ontology 19
    Phenotypes 43
  • Earliest
    J:5056 Ricardo NS, et al., Further observations on lg MI (lid-gap Miller) and other ope1-eye mutants in the house mouse. Can J Genet Cytol. 1967 Sep;9(3):596-605
  • Latest
    J:227054 Yousaf R, et al., MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells. Dis Model Mech. 2015 Dec 1;8(12):1543-53

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory