Gene

gja1b

ID
ZDB-GENE-991105-4
Name
gap junction protein alpha 1b
Symbol
gja1b Nomenclature History
Previous Names
  • gja1 (1)
  • cx43 (1)
  • cx43a1 (1)
  • etID309742.9 (1)
  • shf
  • short fin
  • sof (1)
  • stopsel (1)
  • stp
  • zfCx43.3 (1)
Type
protein_coding_gene
Location
Chr: 20 Mapping Details/Browsers
Description
Exhibits gap junction hemi-channel activity and voltage-gated channel activity. Involved in several processes, including Kupffer's vesicle development; embryonic organ development; and fin regeneration. Localizes to gap junction and plasma membrane. Is expressed in several structures, including cardiovascular system; digestive system; fin; immature eye; and nervous system. 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).
Genome Resources
Note
None
Expression
All Expression Data
48 figures from 24 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
21 figures from 7 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gja1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
atrioventricular septal defect Alliance Atrioventricular septal defect 3 600309
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 gja1b 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
Family IPR000500 Connexin
Family IPR002261 Gap junction alpha-1 protein (Cx43)
Homologous_superfamily IPR038359 Connexin, N-terminal domain superfamily
Domain Details Per Protein
Protein Length Connexin Connexin, conserved site Connexin, N-terminal Connexin, N-terminal domain superfamily Gap junction alpha-1 protein (Cx43)
UniProtKB:U3JAS3 141
UniProtKB:O57474 381
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-cx43 polyclonal Rabbit
  • IHC
  • WB
Quality Controlled Biochemicals
4
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations