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Gja1 Gene Detail
Summary
  • Symbol
    Gja1
  • Name
    gap junction protein, alpha 1
  • Synonyms
    alpha 1 connexin, Cnx43, connexin 43, connexin43, Cx43, Cx43alpha1, Gja-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95713
    NCBI Gene: 14609
  • Alliance
    gene page
  • Transcription Start Sites
    25 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:56253297-56266519 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 28.64 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    344 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95713
 protein coding gene Chr10:56253297-56278609 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017236
 protein coding gene Chr10:55684287-55700175 (+)
A/J MGP_AJ_G0017212
 protein coding gene Chr10:54046834-54060212 (+)
AKR/J MGP_AKRJ_G0017172
 protein coding gene Chr10:55132654-55145949 (+)
BALB/cJ MGP_BALBcJ_G0017173
 protein coding gene Chr10:54151670-54164924 (+)
C3H/HeJ MGP_C3HHeJ_G0016996
 protein coding gene Chr10:55409601-55423709 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017632
 protein coding gene Chr10:57405649-57419543 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015326
 protein coding gene Chr10:51020932-51033388 (+)
CAST/EiJ MGP_CASTEiJ_G0016569
 protein coding gene Chr10:55375567-55388314 (+)
CBA/J MGP_CBAJ_G0016968
 protein coding gene Chr10:59849102-59863912 (+)
DBA/2J MGP_DBA2J_G0017073
 protein coding gene Chr10:53411077-53424349 (+)
FVB/NJ MGP_FVBNJ_G0017068
 protein coding gene Chr10:52693857-52708110 (+)
LP/J MGP_LPJ_G0017148
 protein coding gene Chr10:55761779-55778069 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017097
 protein coding gene Chr10:61984796-61999248 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017669
 protein coding gene Chr10:55016268-55030426 (+)
PWK/PhJ MGP_PWKPhJ_G0016350
 protein coding gene Chr10:53250734-53264088 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016136
 protein coding gene Chr10:54699399-54715235 (+)
WSB/EiJ MGP_WSBEiJ_G0016634
 protein coding gene Chr10:55229933-55242834 (+)



Homology
more
  • Human Ortholog
    GJA1, gap junction protein alpha 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GJA1, gap junction protein alpha 1
  • 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; chr6:121435595-121449727 (+)  GRCh38
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
less
  • Phenotype Summary
    232 phenotypes from 21 alleles in 27 genetic backgrounds
    39 phenotypes from multigenic genotypes
    10 images
    365 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.
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
less
  • All GO Annotations
    249
  • GO References
    62
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1861
  • Tissues
    709
  • cDNA Data
    367
  • Literature Summary
    266
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14609 NCBI Gene Model | MGI Sequence Detail 13223 C57BL/6J ±  kb
    transcript NM_001428500 RefSeq | MGI Sequence Detail 3276 C57BL/6  
    polypeptide P23242 UniProt | EBI | MGI Sequence Detail 382 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • Protein Ontology
      PR:000008373 gap junction alpha-1 protein
      (term hierarchy)
    • InterPro Domains
      IPR000500 Connexin
      IPR017990 Connexin, conserved site
      IPR034634 Connexin, C-terminal
      IPR013092 Connexin, N-terminal
      IPR038359 Connexin, N-terminal domain superfamily
      IPR002261 Gap junction alpha-1 protein (Cx43)
      IPR035091 Gap junction alpha-1 protein (Cx43), alpha helix domain superfamily
      IPR013124 Gap junction alpha-1 protein (Cx43), C-terminal
      IPR019570 Gap junction protein, cysteine-rich domain
    • GlyGen
      P23242 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 409
      Genomic 9
      cDNA 370
      Primer pair 21
      Other 9

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-10079, MGD-MRK-10085, MGI:2143760, MGI:2143856
    References
    more
    • Summaries
      All 830
      Developmental Gene Expression 266
      Diseases 4
      Gene Ontology 62
      Phenotypes 365
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:357468 Sedmera D, et al., Morphological, electrophysiological, and molecular alterations in foetal noncompacted cardiomyopathy induced by disruption of ROCK signalling. Front Cell Dev Biol. 2024;12:1471751
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory