Community Action Needed: Please respond to the NIH RFI
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
Enables gap junction hemi-channel activity and voltage-gated channel activity. Acts upstream of or within several processes, including Kupffer's vesicle development; embryonic organ development; and fin regeneration. Located in 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 autosomal recessive craniometaphyseal dysplasia; congenital heart disease (multiple); erythrokeratodermia variabilis (multiple); oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Orthologous to human GJA1 (gap junction protein alpha 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
51 figures from 27 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
24 figures from 8 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
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 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
Domain IPR013124 Gap junction alpha-1 protein (Cx43), C-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 IPR035091 Gap junction alpha-1 protein (Cx43), alpha helix domain superfamily
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 alpha-1 protein (Cx43), alpha helix domain superfamily Gap junction alpha-1 protein (Cx43), C-terminal Gap junction protein, cysteine-rich domain
UniProtKB:O57474 381
UniProtKB:U3JAS3 141
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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations