Gene: GJA1 (gap junction protein alpha 1) Homo sapiens
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Symbol: GJA1
Name: gap junction protein alpha 1
Description: This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
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)
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
GRCh386121,435,577 - 121,449,744 (+)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
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on GJA1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736925
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-05-14
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.