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GJA1 gap junction protein, alpha 1, 43kDa [ Homo sapiens (human) ]

Gene ID: 2697, updated on 14-Apr-2015
Official Symbol
GJA1provided by HGNC
Official Full Name
gap junction protein, alpha 1, 43kDaprovided by HGNC
Primary source
HGNC:HGNC:4274
See related
Ensembl:ENSG00000152661; HPRD:00414; MIM:121014; Vega:OTTHUMG00000015479
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; GJAL; ODDD; AVSD3; HLHS1
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]
Orthologs
See GJA1 in MapViewer
Location:
6q22.31
Exon count:
2
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (121435577..121449744)
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 transcription factor A, mitochondrial pseudogene Neighboring gene solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Atrioventricular septal defect and common atrioventricular junction
MedGen: C0344783 OMIM: 600309 GeneReviews: Not available
Compare labs
Craniometaphyseal dysplasia, autosomal recessive type
MedGen: C1857496 OMIM: 218400 GeneReviews: Not available
Compare labs
Hypoplastic left heart syndrome
MedGen: C0152101 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
Products Interactant Other Gene Complex Source Pubs Description

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-tubulin binding IEA
Inferred from Electronic Annotation
more info
 
connexin binding IEA
Inferred from Electronic Annotation
more info
 
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 
ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor binding IEA
Inferred from Electronic Annotation
more info
 
scaffold protein binding IEA
Inferred from Electronic Annotation
more info
 
signal transducer activity IDA
Inferred from Direct Assay
more info
PubMed 
signal transducer activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
ATP transport IEA
Inferred from Electronic Annotation
more info
 
adult heart development 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 
atrial ventricular junction remodeling IEA
Inferred from Electronic Annotation
more info
 
blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell communication by chemical coupling IEA
Inferred from Electronic Annotation
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 IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
chronic inflammatory response IEA
Inferred from Electronic Annotation
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endothelium development IEA
Inferred from Electronic Annotation
more info
 
epithelial cell maturation IEA
Inferred from Electronic Annotation
more info
 
gap junction assembly TAS
Traceable Author Statement
more info
PubMed 
heart development TAS
Traceable Author Statement
more info
PubMed 
heart looping IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
milk ejection IEA
Inferred from Electronic Annotation
more info
 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
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 endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
negative regulation of wound healing IEA
Inferred from Electronic Annotation
more info
 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
neuron projection morphogenesis IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of behavioral fear response 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 cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
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 osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of striated muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vasodilation IEA
Inferred from Electronic Annotation
more info
 
protein oligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of atrial cardiac muscle cell membrane depolarization IEA
Inferred from Electronic Annotation
more info
 
regulation of bicellular tight junction assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
regulation of bone remodeling IEA
Inferred from Electronic Annotation
more info
 
regulation of calcium ion transport IEA
Inferred from Electronic Annotation
more info
 
regulation of ventricular cardiac muscle cell membrane depolarization IEA
Inferred from Electronic Annotation
more info
 
regulation of ventricular cardiac muscle cell membrane repolarization 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 pH IEA
Inferred from Electronic Annotation
more info
 
response to peptide hormone IEA
Inferred from Electronic Annotation
more info
 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
connexon complex IEA
Inferred from Electronic Annotation
more info
 
contractile fiber IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
early endosome IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
fascia adherens IEA
Inferred from Electronic Annotation
more info
 
focal adhesion IDA
Inferred from Direct Assay
more info
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
 
intermediate filament IEA
Inferred from Electronic Annotation
more info
 
lateral plasma membrane IEA
Inferred from Electronic Annotation
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
 
multivesicular body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
gap junction alpha-1 protein
Names
gap junction alpha-1 protein
connexin 43
connexin-43
gap junction 43 kDa heart protein

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
    4979..19146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000165.4NP_000156.1  gap junction alpha-1 protein

    See proteins identical to NP_000156.1

    Status: REVIEWED

    Source sequence(s)
    AL139098, AW664595, BC026329, BP226987
    Consensus CDS
    CCDS5123.1
    UniProtKB/Swiss-Prot
    P17302
    Related
    ENSP00000282561, OTTHUMP00000017111, ENST00000282561, OTTHUMT00000042023
    Conserved Domains (3) summary
    pfam00029
    Location:3101
    Connexin; Connexin
    pfam03508
    Location:293312
    Connexin43; Gap junction alpha-1 protein (Cx43)
    smart01089
    Location:165231
    Connexin_CCC; Gap junction channel protein cysteine-rich domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    121435577..121449744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    122020528..122034696
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)