Gene
gja1b
- ID
- ZDB-GENE-991105-4
- Name
- gap junction protein alpha 1b
- Symbol
- gja1b Nomenclature History
- Previous Names
- 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. 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. Is expressed in several structures, including cardiovascular system; digestive system; fin; immature eye; and nervous system. Orthologous to human GJA1 (gap junction protein alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 54 figures from 30 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55225 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- 32 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive craniometaphyseal dysplasia | Alliance | Craniometaphyseal dysplasia, autosomal recessive | 218400 |
| erythrokeratodermia variabilis et progressiva 3 | Alliance | Erythrokeratodermia variabilis et progressiva 3 | 617525 |
| 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 |
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 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-cx43 | polyclonal | Rabbit |
|
Quality Controlled Biochemicals
|
4 |
Plasmids
No data available