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GJA1 gap junction protein alpha 1 [ Homo sapiens (human) ]

Gene ID: 2697, updated on 28-Jun-2020

Summary

Official Symbol
GJA1provided by HGNC
Official Full Name
gap junction protein alpha 1provided by HGNC
Primary source
HGNC:HGNC:4274
See related
Ensembl:ENSG00000152661 MIM:121014
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSS; CMDR; CX43; EKVP; GJAL; ODDD; AVSD3; EKVP3; HLHS1; PPKCA
Summary
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]
Expression
Broad expression in skin (RPKM 198.8), adrenal (RPKM 176.9) and 17 other tissues See more
Orthologs

Genomic context

See GJA1 in Genome Data Viewer
Location:
6q22.31
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (121435646..121449727)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (121756745..121770873)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S15a pseudogene 21 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 29 Neighboring gene RNA, U4 small nuclear 35, pseudogene Neighboring gene transcription factor A, mitochondrial pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Alopecia congenita keratosis palmoplantaris
MedGen: C3151468 OMIM: 104100 GeneReviews: Not available
Compare labs
Atrioventricular septal defect 3
MedGen: C3275750 OMIM: 600309 GeneReviews: Not available
Compare labs
Craniometaphyseal dysplasia, autosomal recessive
MedGen: C2931244 OMIM: 218400 GeneReviews: Not available
Compare labs
Erythrokeratodermia variabilis et progressiva 3
MedGen: C4479619 OMIM: 617525 GeneReviews: Not available
Compare labs
Hypoplastic left heart syndrome 1
MedGen: C4551854 OMIM: 241550 GeneReviews: Not available
Compare labs
Oculodentodigital dysplasia
MedGen: C0812437 OMIM: 164200 GeneReviews: Not available
Compare labs
Oculodentodigital dysplasia, autosomal recessive
MedGen: C2749477 OMIM: 257850 GeneReviews: Not available
Compare labs
Syndactyly type 3
MedGen: C1861366 OMIM: 186100 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-11-20)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-11-20)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants.
NHGRI GWA Catalog
Genome-wide association analysis identifies multiple loci related to resting heart rate.
NHGRI GWA Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates the expression of GJA1 (Cx43) by binding the promoter of Cx43 in human astrocytes PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IEA
Inferred from Electronic Annotation
more info
 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
connexin binding IEA
Inferred from Electronic Annotation
more info
 
disordered domain specific binding IEA
Inferred from Electronic Annotation
more info
 
efflux transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gap junction channel activity IDA
Inferred from Direct Assay
more info
PubMed 
gap junction channel activity involved in cardiac conduction electrical coupling NAS
Non-traceable Author Statement
more info
PubMed 
gap junction channel activity involved in cell communication by electrical coupling IDA
Inferred from Direct Assay
more info
PubMed 
gap junction hemi-channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
glutathione transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ATP transport IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
atrial cardiac muscle cell action potential TAS
Traceable Author Statement
more info
PubMed 
bone development ISS
Inferred from Sequence or Structural Similarity
more info
 
bone remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
cell communication by electrical coupling IDA
Inferred from Direct Assay
more info
PubMed 
cell communication by electrical coupling involved in cardiac conduction NAS
Non-traceable Author Statement
more info
PubMed 
cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell signaling IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to amyloid-beta ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to parathyroid hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
chronic inflammatory response IEA
Inferred from Electronic Annotation
more info
 
decidualization IEA
Inferred from Electronic Annotation
more info
 
endothelium development IEA
Inferred from Electronic Annotation
more info
 
epididymis development IEA
Inferred from Electronic Annotation
more info
 
establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
gap junction assembly TAS
Traceable Author Statement
more info
PubMed 
glutamate secretion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
glutathione transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
maintenance of permeability of blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
maintenance of protein localization in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cardiac muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell growth ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gonadotropin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of trophoblast cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of wound healing IEA
Inferred from Electronic Annotation
more info
 
neuron projection morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of I-kappaB kinase/NF-kappaB signaling HMP PubMed 
positive regulation of behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
positive regulation of blood vessel diameter IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell communication by chemical coupling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of glomerular filtration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mesodermal cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of morphogenesis of an epithelium IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of vascular smooth muscle cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of bicellular tight junction assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of calcium ion transport IEA
Inferred from Electronic Annotation
more info
 
regulation of cell communication by electrical coupling IEA
Inferred from Electronic Annotation
more info
 
regulation of transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to fluid shear stress IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
response to ischemia IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to pH IEA
Inferred from Electronic Annotation
more info
 
response to peptide hormone IEA
Inferred from Electronic Annotation
more info
 
response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
vascular transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
Golgi-associated vesicle membrane TAS
Traceable Author Statement
more info
 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell contact zone IDA
Inferred from Direct Assay
more info
PubMed 
connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
connexin complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
fascia adherens IEA
Inferred from Electronic Annotation
more info
 
focal adhesion HDA PubMed 
gap junction IDA
Inferred from Direct Assay
more info
PubMed 
gap junction ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
intercalated disc ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosome IEA
Inferred from Electronic Annotation
more info
 
membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
multivesicular body IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
tight junction IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
gap junction alpha-1 protein
Names
connexin-43
gap junction 43 kDa heart protein
gap junction protein, alpha 1, 43kDa

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008308.1 RefSeqGene

    Range
    5048..19129
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000165.5NP_000156.1  gap junction alpha-1 protein

    See identical proteins and their annotated locations for NP_000156.1

    Status: REVIEWED

    Source sequence(s)
    AL139098, AW664595, BC026329, BP226987
    Consensus CDS
    CCDS5123.1
    UniProtKB/Swiss-Prot
    P17302
    Related
    ENSP00000282561.3, ENST00000282561.4
    Conserved Domains (2) summary
    pfam00029
    Location:3233
    Connexin; Connexin
    pfam03508
    Location:293312
    Connexin43; Gap junction alpha-1 protein (Cx43)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    121435646..121449727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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