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Gene: GJA1 (gap junction protein alpha 1) Homo sapiens

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Symbol:

GJA1

Name:

gap junction protein alpha 1

RGD ID:

736925

HGNC Page

HGNC:4274

Description:

Enables several functions, including alpha-tubulin binding activity; beta-catenin binding activity; and gap junction channel activity. Involved in several processes, including establishment of mitotic spindle orientation; negative regulation of gonadotropin secretion; and negative regulation of trophoblast cell migration. Located in several cellular components, including gap junction; intercalated disc; and tight junction. Implicated in several diseases, including bone disease (multiple); erythrokeratodermia variabilis (multiple); hypoplastic left heart syndrome; oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Biomarker of Huntington's disease; atrial fibrillation; cardiomyopathy (multiple); and tetralogy of Fallot.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously 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

RGD Orthologs

Alliance Orthologs

More Info

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More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Gja1 (gap junction protein, alpha 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Gja1 (gap junction protein, alpha 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Gja1 (gap junction protein alpha 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	GJA1 (gap junction protein alpha 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	GJA1 (gap junction protein alpha 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Gja1 (gap junction protein alpha 1)	NCBI	Ortholog
Sus scrofa (pig):	GJA1 (gap junction protein alpha 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	GJA1 (gap junction protein alpha 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Gja1 (gap junction protein alpha 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Gja6 (gap junction protein, alpha 6)	HGNC	EggNOG, Ensembl, Panther, Treefam
Rattus norvegicus (Norway rat):	Gja6 (gap junction protein, alpha 6)	HGNC	Ensembl, Panther, PhylomeDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Gja1 (gap junction protein, alpha 1)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Gja6 (gap junction protein, alpha 6)	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB)
Mus musculus (house mouse):	Gja1 (gap junction protein, alpha 1)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Gja6 (gap junction protein, alpha 6)	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB)
Danio rerio (zebrafish):	cx43 (connexin 43)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	cx40.8	Alliance	DIOPT (Ensembl Compara\|PANTHER\|ZFIN)
Xenopus laevis (African clawed frog):	gja1.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	gja1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	gja1.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

GJA1P1 GJA6P

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	121,435,646 - 121,449,727 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	121,435,595 - 121,449,727 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	121,756,792 - 121,770,873 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	121,798,444 - 121,812,572 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	121,798,486 - 121,812,571	NCBI
Celera	6	122,501,175 - 122,515,303 (+)	NCBI		Celera
Cytogenetic Map	6	q22.31	NCBI
HuRef	6	119,340,180 - 119,354,307 (+)	NCBI		HuRef
CHM1_1	6	122,020,550 - 122,034,679 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	122,622,700 - 122,636,781 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

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