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
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- 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 |
| 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), C-terminal | Gap junction protein, cysteine-rich domain |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7FBZ4
|
354 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cx40.8-201
(1)
|
Ensembl | 1,959 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-cx40.8 | polyclonal | Rabbit |
|
1 |
Plasmids
No data available