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Gene: GJA1 (gap junction protein alpha 1) Homo sapiens
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Symbol: GJA1
Name: gap junction protein alpha 1
Description: Exhibits several functions, including alpha-tubulin binding activity; beta-catenin binding activity; and gap junction channel activity. Involved in several processes, including establishment of mitotic spindle orientation; negative regulation of gonadotropin secretion; and negative regulation of trophoblast cell migration. Localizes to several cellular components, including gap junction; intercalated disc; and tight junction. Implicated in congenital heart disease (multiple); erythrokeratodermia variabilis (multiple); oculodentodigital dysplasia; palmoplantar keratoderma and congenital alopecia 1; and palmoplantar keratosis. Biomarker of Huntington's disease; atrial fibrillation; cardiomyopathy (multiple); and tetralogy of Fallot.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AVSD3; CMDR; connexin 43; connexin-43; CX43; DFNB38; EKVP; EKVP3; gap junction 43 kDa heart protein; gap junction alpha-1 protein; gap junction membrane channel protein alpha 1; gap junction protein, alpha 1, 43kDa; gap junction protein, alpha-like; GJAL; HLHS1; HSS; ODDD; PPKCA
Orthologs:
Mus musculus (house mouse) : Gja1 (gap junction protein, alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Gja1 (gap junction protein, alpha 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gja1 (gap junction protein alpha 1)
Pan paniscus (bonobo/pygmy chimpanzee) : GJA1 (gap junction protein alpha 1)
Canis lupus familiaris (dog) : GJA1 (gap junction protein alpha 1)
Sus scrofa (pig) : GJA1 (gap junction protein alpha 1)
Chlorocebus sabaeus (African green monkey) : GJA1 (gap junction protein alpha 1)
Heterocephalus glaber (naked mole-rat) : Gja1 (gap junction protein alpha 1)
more info ...
Related Pseudogenes: GJA1P1   GJA6P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl6121,435,595 - 121,449,727 (+)EnsemblGRCh38hg38GRCh38
GRCh386121,435,646 - 121,449,727 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376121,756,745 - 121,770,873 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366121,798,444 - 121,812,572 (+)NCBINCBI36hg18NCBI36
Build 346121,798,486 - 121,812,571NCBI
Celera6122,501,175 - 122,515,303 (+)NCBI
Cytogenetic Map6q22.31NCBI
HuRef6119,340,180 - 119,354,307 (+)NCBIHuRef
CHM1_16122,020,528 - 122,034,696 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data