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Gene: Gja1 (gap junction protein, alpha 1) Mus musculus
Symbol: Gja1
Name: gap junction protein, alpha 1
Description: Exhibits several functions, including beta-tubulin binding activity; scaffold protein binding activity; and transmembrane transporter activity. Involved in several processes, including animal organ development; regulation of gene expression; and regulation of membrane depolarization. Localizes to several cellular components, including fascia adherens; gap junction; and lateral plasma membrane. Is expressed in several structures, including alimentary system; embryo ectoderm; genitourinary system; limb; and sensory organ. Used to study oculodentodigital dysplasia. Human ortholog(s) of this gene implicated in several diseases, including congenital heart disease (multiple); erythrokeratodermia variabilis (multiple); oculodentodigital dysplasia; palmoplantar keratoderma and congenital alopecia 1; and syndactyly type 3. Orthologous to human GJA1 (gap junction protein alpha 1); PARTICIPATES IN connexin signaling pathway; N-cadherin signaling pathway; arrhythmogenic right ventricular cardiomyopathy pathway; INTERACTS WITH (R)-lipoic acid; 17alpha-ethynylestradiol; 17beta-estradiol.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: alpha 1 connexin; AU042049; AW546267; Cnx43; connexin 43; connexin k1; connexin-43; connexin43; Cx43; Cx43alpha1; Cxnk1; gap junction 43 kDa heart protein; gap junction alpha-1 protein; gap junction membrane channel protein alpha 1; Gja-1; Npm1
Homo sapiens (human) : GJA1 (gap junction protein alpha 1)  HGNC  Alliance
Rattus norvegicus (Norway rat) : Gja1 (gap junction protein, alpha 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gja1 (gap junction protein alpha 1)
Pan paniscus (bonobo/pygmy chimpanzee) : GJA1 (gap junction protein alpha 1)
Canis lupus familiaris (dog) : GJA1 (gap junction protein alpha 1)
Sus scrofa (pig) : GJA1 (gap junction protein alpha 1)
Chlorocebus sabaeus (African green monkey) : GJA1 (gap junction protein alpha 1)
Heterocephalus glaber (naked mole-rat) : Gja1 (gap junction protein alpha 1)
more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm38 Ensembl1056,377,330 - 56,402,513 (+)EnsemblGRCm38mm10GRCm38
GRCm381056,377,300 - 56,390,419 (+)NCBIGRCm38GRCm38mm10GRCm38
MGSCv371056,097,106 - 56,110,225 (+)NCBIGRCm37mm9NCBIm37
MGSCv361056,065,762 - 56,078,833 (+)NCBImm8
Celera1057,194,935 - 57,208,041 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1028.64NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status



Nucleotide Sequences
Protein Sequences

Additional Information

External Database Links
More on Gja1
Alliance Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 10649
Created: 2000-05-25
Species: Mus musculus
Last Modified: 2020-06-19
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.