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

    Mouse Genome Browser

  • Download
    Sequence
      13120 bp   ±  kb flank

  • Genome Browsers
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, GJAL, HLHS1, HSS, ODDD, PPKCA
  • Links
    NCBI Gene ID: 2697
    neXtProt AC: NX_P17302

  • Chr Location
    6q22.31; chr6:121435577-121449744 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 136
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • 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
       Oculodentodigital Dysplasia; ODDD   OMIM: 164200 View 5 models
       Atrioventricular Septal Defect 3; AVSD3   OMIM: 600309
Craniometaphyseal Dysplasia, Autosomal Recessive; CMDR   OMIM: 218400
Erythrokeratodermia Variabilis Et Progressiva; EKVP   OMIM: 133200
Hypoplastic Left Heart Syndrome 1; HLHS1   OMIM: 241550
Oculodentodigital Dysplasia, Autosomal Recessive   OMIM: 257850
Palmoplantar Keratoderma and Congenital Alopecia 1; PPKCA1   OMIM: 104100
Syndactyly, Type III   OMIM: 186100
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    229 phenotypes from 22 alleles in 28 genetic backgrounds
    24 phenotypes from multigenic genotypes
    10 images
    218 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    62
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Gene trapped
    33
  • Radiation induced
    1
  • Targeted
    24
  • Transgenic
    1
  • Genomic Mutations
    2 involving Gja1
  • Incidental Mutations
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
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 ENSMUSG00000050953 Ensembl Gene Model | MGI Sequence Detail 13120 C57BL/6J ±  kb
transcript ENSMUST00000068581 Ensembl | MGI Sequence Detail 3105 Not Applicable  
polypeptide ENSMUSP00000064536 Ensembl | MGI Sequence Detail 382 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    100 from dbSNP Build 137
  • RFLP
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000008373 gap junction alpha-1 protein
  • InterPro Domains
    IPR000500 Connexin
    IPR017990 Connexin, conserved site
    IPR013092 Connexin, N-terminal
    IPR002261 Gap junction alpha-1 protein (Cx43)
    IPR013124 Gap junction alpha-1 protein (Cx43), C-terminal
    IPR019570 Gap junction protein, cysteine-rich domain
Molecular
Reagents
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  • All nucleic 385
    Genomic 9
    cDNA 365
    Primer pair 8
    Other 3

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-10079, MGD-MRK-10085, MGI:2143760, MGI:2143856
References
more
  • Summaries
    All 508
    Developmental Gene Expression 173
    Diseases 6
    Gene Ontology 44
    Phenotypes 218
  • Earliest
    J:11073 Willecke K, et al., Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. Eur J Cell Biol. 1990 Dec;53(2):275-80
  • Latest
    J:227846 Roux L, et al., Astroglial Connexin 43 Hemichannels Modulate Olfactory Bulb Slow Oscillations. J Neurosci. 2015 Nov 18;35(46):15339-52

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
02/02/2016
MGI 6.02
The Jackson Laboratory