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Gja1 Gene Detail
Summary
  • Symbol
    Gja1
  • Name
    gap junction protein, alpha 1
  • Synonyms
    alpha 1 connexin, Cnx43, connexin43, connexin 43, Cx43, Cx43alpha1, Gja-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95713
    NCBI Gene: 14609
  • Gene Overview
    MyGene.info: GJA1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:56377300-56390419 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13120 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 28.64 cM
  • Mapping Data
    10 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    GJA1, gap junction protein alpha 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GJA1, gap junction protein alpha 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AVSD3, CMDR, CX43, EKVP, EKVP3, GJAL, HLHS1, HSS, ODDD, PPKCA
  • Links
    NCBI Gene ID: 2697
    neXtProt AC: NX_P17302
    UniProt: P17302

  • Chr Location
    6q22.31; chr6:121435577-121449744 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 136
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: GJA1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Gja1 mouse models; 8 with human GJA1 associations

Human Disease Mouse Models
      
IDs
View 5 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    232 phenotypes from 22 alleles in 28 genetic backgrounds
    24 phenotypes from multigenic genotypes
    10 images
    256 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.
Mutant homozygotes are neonatal lethal with heart and outflow tract malformations, eye lens anomalies, and male germ cell deficiency. Conditional deletion in ovary affects follicular development, in astrocytes enhances locomotor activity, and in neural cells produces behavioral and neural defects.
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14609 NCBI Gene Model | MGI Sequence Detail 13120 C57BL/6J ±  kb
    transcript NM_010288 RefSeq | MGI Sequence Detail 3105 C57BL/6  
    polypeptide P23242 UniProt | EBI | MGI Sequence Detail 382 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      88 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 390
      Genomic 9
      cDNA 366
      Primer pair 10
      Other 5

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-10079, MGD-MRK-10085, MGI:2143760, MGI:2143856
    References
    more
    • Summaries
      All 616
      Developmental Gene Expression 200
      Diseases 4
      Gene Ontology 49
      Phenotypes 256
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:264258 Miyamoto Y, et al., The STK35 locus contributes to normal gametogenesis and encodes a lncRNA responsive to oxidative stress. Biol Open. 2018 Aug 6;7(8)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    09/18/2018
    MGI 6.12
    The Jackson Laboratory