GJA1 gap junction protein, alpha 1, 43kDa [Homo sapiens] - Gene

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Summary

Official Symbol: GJA1provided by HGNC
Official Full Name: gap junction protein, alpha 1, 43kDaprovided by HGNC
Primary source: 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; CX43; GJAL; ODDD; AVSD3; HLHS1; DFNB38
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 and heart malformations. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 6q21-q23.2

Sequence :: Chromosome: 6; NC_000006.11 (121756745..121770873)

See GJA1 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

four patients with anomalous left coronary artery from the pulmonary artery (ALCAPA) did not exhibit any evidence of association between connexin 43alpha1 and the clinical phenotype
Title: Absence of GJA1 gene mutations in four patients with anomalous left coronary artery from the pulmonary artery (ALCAPA).
A significant reduction is found in ATP release after weight-drop injury in mice with deletion of connexin43 (Cx43) compared with Cx43-expressing littermates.
Title: Critical role of connexin 43 in secondary expansion of traumatic spinal cord injury.
Gossypol reduces the expression of CX43 in TM4 Sertoli cells.
Title: [Gossypol decreases the expression of connexin 43 in Sertoli cells].
we report on the role of the C-terminus of connexin43 in the process of gap junction assembly
Title: Gap junction assembly: roles for the formation plaque and regulation by the C-terminus of connexin43.
Cx43-induced gap junctional changes do not initiate granulosa cell apoptosis but likely result from apoptosis induced by GnRH-I or -II.
Title: Gonadotropin-releasing hormone-I or -II interacts with IGF-I/Akt but not connexin 43 in human granulosa cell apoptosis.
Cx43 is dispensable for cellular BP binding, its uptake, as well as the proliferative effects of these agents
Title: Role of connexin 43 in the mechanism of action of alendronate: dissociation of anti-apoptotic and proliferative signaling pathways.
This study provides the first molecular and functional evidence implicating a GJA1 mutation as a novel pathogenic substrate for sudden infant death syndrome.
Title: Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death.
Cx43 has a dual function exporting NAD(+) and importing cADPR into the cell to activate intracellular calcium mobilization.
Title: Connexin-43 hemichannels mediate cyclic ADP-ribose generation and its Ca2+-mobilizing activity by NAD+/cyclic ADP-ribose transport.
this study identifies a new mechanism of gap junction intercellular communication regulation in which endogenous g-protein coupled receptor agonists dynamically alter interactions between connexin43 and zonula occludens-1
Title: Increased interaction of connexin43 with zonula occludens-1 during inhibition of gap junctions by G protein-coupled receptor agonists.
increased expression of Cx43 in PC-3 cells led to an unfunctional, cytoplasmic localization of the protein and was correlated with a reduction of proliferation, adhesion and invasion of the cells
Title: The gap junction protein Cx43 is involved in the bone-targeted metastatic behaviour of human prostate cancer cells.

Submit: New GeneRIF Correction See all (217)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study identifies protein quantitative trait loci (pQTLs).

Atrioventricular septal defect 3

MIM: 600309

Genome-wide association analysis identifies multiple loci related to resting heart rate.

Hypoplastic left heart syndrome 1

MIM: 241550

Oculodentodigital dysplasia, autosomal recessive

MIM: 257850

Products	Interactant	Other Gene	Source	Pubs	Description
NP_000156.1	NP_005408.1	SRC	BIND	PubMed	Cx43 interacts with v-Src. This interaction was modelled on a demonstrated interaction between rat Cx43 and human v-Src.
P17302	Q03135	CAV1	HPRD	PubMed
P17302	P41240	CSK	HPRD	PubMed
P17302	P48730	CSNK1D	HPRD	PubMed
P17302	Q9Y6H8	GJA3	HPRD	PubMed
P17302	P36382	GJA5	HPRD	PubMed
P17302	P28482	MAPK1	HPRD	PubMed
P17302	P27361	MAPK3	HPRD	PubMed
P17302	Q13164	MAPK7	HPRD	PubMed
P17302	P48745	NOV	HPRD	PubMed
P17302	P17252	PRKCA	HPRD	PubMed
P17302	P05771	PRKCB	HPRD	PubMed
P17302	Q02156	PRKCE	HPRD	PubMed
P17302	P05129	PRKCG	HPRD	PubMed
P17302	P23297	S100A1	HPRD	PubMed
P17302	RUN and TBC1 domain containing 3	SGSM3	HPRD	PubMed
P17302	P12931	SRC	HPRD	PubMed
P17302	Q07157	TJP1	HPRD	PubMed
BioGRID:108964	BioGRID:107305	CAV1	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation; Reconstituted Complex
BioGRID:108964	BioGRID:107837	CSNK1D	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:108964	BioGRID:108374	EPS15	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108964	BioGRID:108964	GJA1	BioGRID	PubMed	Co-fractionation
BioGRID:108964	BioGRID:108967	GJA3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108964	BioGRID:108969	GJA5	BioGRID	PubMed	Co-purification
BioGRID:108964	BioGRID:114593	HGS	BioGRID	PubMed	Co-localization
BioGRID:108964	BioGRID:111584	MAPK7	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:108964	BioGRID:110811	NEDD4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108964	BioGRID:111564	PRKCA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108964	BioGRID:111567	PRKCE	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108964	BioGRID:112179	S100A1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108964	BioGRID:112937	TJP1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:108964	BioGRID:113102	TSG101	BioGRID	PubMed	Co-localization
BioGRID:108964	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-localization
BioGRID:108964	BioGRID:121223	UBQLN4	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
PDZ domain binding	IEA Inferred from Electronic Annotation more info
SH3 domain binding	IEA Inferred from Electronic Annotation more info
gap junction channel activity	IEA Inferred from Electronic Annotation more info
ion transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
signal transducer activity	IMP Inferred from Mutant Phenotype more info	PubMed
transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
ATP transport	IEA Inferred from Electronic Annotation more info
apoptotic process	IEA Inferred from Electronic Annotation more info
cell-cell signaling	IEA Inferred from Electronic Annotation more info
cellular membrane organization	TAS Traceable Author Statement more info
gap junction assembly	TAS Traceable Author Statement more info
heart development	IEA Inferred from Electronic Annotation more info
ion transmembrane transport	TAS Traceable Author Statement more info	PubMed
muscle contraction	TAS Traceable Author Statement more info	PubMed
negative regulation of cell proliferation	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 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein catabolic process	IEA Inferred from Electronic Annotation more info
protein oligomerization	IEA Inferred from Electronic Annotation more info
regulation of calcium ion transport	IEA Inferred from Electronic Annotation more info
response to pH	IEA Inferred from Electronic Annotation more info
response to peptide hormone stimulus	IEA Inferred from Electronic Annotation more info
signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
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
cell junction	IEA Inferred from Electronic Annotation more info
connexon complex	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
early endosome	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	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
gap junction	ISS Inferred from Sequence or Structural Similarity more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
lysosome	IEA Inferred from Electronic Annotation more info
membrane fraction	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

General protein information

Preferred Names: gap junction alpha-1 protein

Names: gap junction alpha-1 protein; connexin 43; connexin-43; gap junction 43 kDa heart protein

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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

NG_008308.1 RefSeqGene

Range

5001..19129

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000165.3 → NP_000156.1 gap junction alpha-1 protein

Status: REVIEWED

Source sequence(s)

AL139098, X52947

Consensus CDS

CCDS5123.1

UniProtKB/Swiss-Prot

P17302

Related

ENSP00000282561, OTTHUMP00000017111, ENST00000282561, OTTHUMT00000042023

Conserved Domains (3) summary

pfam03508
Location:293 – 312
Blast Score: 120

Connexin43; Gap junction alpha-1 protein (Cx43)

cl02435
Location:3 – 101
Blast Score: 546

Connexin; Connexin

cl11207
Location:165 – 231
Blast Score: 326

Connexin_CCC; Gap junction channel protein cysteine-rich domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

121756745..121770873

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

119340180..119354307

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF151980.2	AAD37802.2
genomic	AL139098.15	CAI20002.1
genomic	CH471051.2	EAW48178.1
genomic	U64573.1	None
mRNA	AK223289.1	BAD97009.1
mRNA	AK294670.1	BAG57837.1
mRNA	AK295460.1	BAG58393.1
mRNA	AK297761.1	BAG60109.1
mRNA	AK297764.1	BAG60112.1
mRNA	AK309377.1	None
mRNA	AK309490.1	None
mRNA	AK312324.1	BAG35246.1
mRNA	BC026329.1	AAH26329.1
mRNA	CR541660.1	CAG46461.1
mRNA	M65188.1	AAA52131.1
mRNA	X52947.1	CAA37122.1
other-genetic	DQ893649.2	ABM84575.1
other-genetic	DQ895611.2	ABM86537.1