Gene

gja1a

ID
ZDB-GENE-050616-10
Name
gap junction protein alpha 1a
Symbol
gja1a Nomenclature History
Previous Names
  • cx40.8 (1)
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Exhibits gap junction channel activity. Predicted to be involved in cell-cell signaling and heart development. Localizes to gap junction and plasma membrane. Human ortholog(s) of this gene implicated in congenital heart disease (multiple); erythrokeratodermia variabilis (multiple); oculodentodigital dysplasia; palmoplantar keratoderma and congenital alopecia 1; and palmoplantar keratosis. Orthologous to human GJA1 (gap junction protein alpha 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gja1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
atrioventricular septal defect Alliance Atrioventricular septal defect 3 600309
autosomal recessive craniometaphyseal dysplasia Alliance Craniometaphyseal dysplasia, autosomal recessive 218400
erythrokeratodermia variabilis et progressiva 3 Alliance Erythrokeratodermia variabilis et progressiva 3 617525
hypoplastic left heart syndrome Alliance Hypoplastic left heart syndrome 1 241550
oculodentodigital dysplasia Alliance Oculodentodigital dysplasia 164200
oculodentodigital dysplasia Alliance Oculodentodigital dysplasia, autosomal recessive 257850
palmoplantar keratoderma and congenital alopecia 1 Alliance Palmoplantar keratoderma with congenital alopecia 104100
syndactyly type 3 Alliance Syndactyly, type III 186100
Associated With gja1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017990 Connexin, conserved site
Domain IPR013092 Connexin, N-terminal
Domain IPR019570 Gap junction protein, cysteine-rich domain
Family IPR000500 Connexin
Family IPR002261 Gap junction alpha-1 protein (Cx43)
Homologous_superfamily IPR034634 Connexin, C-terminal
Homologous_superfamily IPR038359 Connexin, N-terminal domain superfamily
Domain Details Per Protein
Protein Length Connexin Connexin, conserved site Connexin, C-terminal Connexin, N-terminal Connexin, N-terminal domain superfamily Gap junction alpha-1 protein (Cx43) Gap junction protein, cysteine-rich domain
UniProtKB:E7FBZ4 354
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-cx40.8 polyclonal Rabbit
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations