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Gene: Gja1 (gap junction protein, alpha 1) Mus musculus
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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
Orthologs:
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
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

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

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
 
More on Gja1
Alliance Gene
NCBI 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



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