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

Gene ID: 2697, updated on 19-Feb-2024

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; AllianceGenome:HGNC:4274
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
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Genomic context

See GJA1 in Genome Data Viewer
Location:
6q22.31
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (121435646..121449727)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (122622700..122636781)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (121756792..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 Neanderthal introgressed variant-containing enhancer experimental_89339 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:121751780-121752762 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:121759052-121759929 Neighboring gene uncharacterized LOC124901515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:121768314-121768814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:121768815-121769315 Neighboring gene RNA, U4 small nuclear 35, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89387 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
Autosomal dominant palmoplantar keratoderma and congenital alopecia
MedGen: C4304669 OMIM: 104100 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
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

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS 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.
EBI GWAS Catalog
Genome-wide association analysis identifies multiple loci related to resting heart rate.
EBI GWAS Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
EBI GWAS 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables beta-tubulin binding IEA
Inferred from Electronic Annotation
more info
 
enables efflux transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables gap junction channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables gap junction channel activity involved in cardiac conduction electrical coupling NAS
Non-traceable Author Statement
more info
PubMed 
enables gap junction channel activity involved in cell communication by electrical coupling IDA
Inferred from Direct Assay
more info
PubMed 
enables gap junction hemi-channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables glutathione transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables monoatomic ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein tyrosine kinase binding IEA
Inferred from Electronic Annotation
more info
 
enables scaffold protein binding IEA
Inferred from Electronic Annotation
more info
 
enables signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 
enables tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in adult heart development IEA
Inferred from Electronic Annotation
more info
 
involved_in atrial cardiac muscle cell action potential TAS
Traceable Author Statement
more info
PubMed 
involved_in atrial ventricular junction remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in bone development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in bone remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac conduction system development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cell communication by chemical coupling IEA
Inferred from Electronic Annotation
more info
 
involved_in cell communication by electrical coupling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell communication by electrical coupling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell communication by electrical coupling involved in cardiac conduction NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell-cell signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to amyloid-beta ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cellular response to pH IEA
Inferred from Electronic Annotation
more info
 
involved_in columnar/cuboidal epithelial cell maturation IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in gap junction assembly TAS
Traceable Author Statement
more info
PubMed 
involved_in glutamate secretion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in glutathione transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in heart looping IEA
Inferred from Electronic Annotation
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
involved_in maintenance of blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
involved_in male gonad development IEA
Inferred from Electronic Annotation
more info
 
involved_in milk ejection reflex IEA
Inferred from Electronic Annotation
more info
 
involved_in monoatomic ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell growth ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of gonadotropin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of trophoblast cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuroblast migration IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron migration IEA
Inferred from Electronic Annotation
more info
 
involved_in osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
involved_in positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
acts_upstream_of positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of mesodermal cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of morphogenesis of an epithelium IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of striated muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of positive regulation of vascular associated smooth muscle cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of atrial cardiac muscle cell membrane depolarization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of bone remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of ventricular cardiac muscle cell membrane depolarization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of ventricular cardiac muscle cell membrane repolarization IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in xenobiotic transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in Golgi-associated vesicle membrane TAS
Traceable Author Statement
more info
 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell-cell contact zone IDA
Inferred from Direct Assay
more info
PubMed 
part_of connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of connexin complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in contractile fiber IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in fascia adherens IEA
Inferred from Electronic Annotation
more info
 
located_in focal adhesion HDA PubMed 
located_in gap junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in gap junction ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in intercalated disc ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in intermediate filament IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in 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)

NEW Try the new Transcript table

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), LRG_1289

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
    B2R5U9, P17302, Q6FHU1, Q9Y5I8
    UniProtKB/TrEMBL
    A0A654IBU3, Q53FJ6
    Related
    ENSP00000282561.3, ENST00000282561.4
    Conserved Domains (2) summary
    pfam00029
    Location:3233
    Connexin
    pfam03508
    Location:293312
    Connexin43; Gap junction alpha-1 protein (Cx43)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    122622700..122636781
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)