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
- Enables gap junction channel activity. Predicted to be involved in cell communication by electrical coupling; cell-cell signaling; and heart development. Predicted to act upstream of or within cell communication. Located in gap junction and plasma membrane. Human ortholog(s) of this gene implicated in several diseases, including bone disease (multiple); erythrokeratodermia variabilis (multiple); hypoplastic left heart syndrome; oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. 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