AlphaFold predicted structure
GJA1 · P17302
Mean pLDDT
69.8/ 100
Low
382 residues
Confidence breakdown
- Very high(≥ 90)30%
- Confident(70–90)28%
- Low(50–70)11%
- Very low(< 50)31%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
GJA1
Chr 6q22.31gap junction protein alpha 1
- Aliases:
- CX43, ODD, ODOD, SDTY3
- MANE:
- ENST00000282561.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedAdult onset leukodystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalChildhood onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedClefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCorneal abnormalities
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalIchthyosis and erythrokeratoderma
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
oculodentodigital dysplasia
0.86erythrokeratodermia variabilis
0.76oculodentodigital dysplasia, autosomal recessive
0.75autosomal dominant palmoplantar keratoderma and congenital alopecia
0.72syndactyly type 3
0.68craniometaphyseal dysplasia, autosomal recessive
0.64hypoplastic left heart syndrome 1
0.60Hallermann-Streiff syndrome
0.60craniometaphyseal dysplasia
0.56familial atrioventricular septal defect
0.52
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Gap junction alpha-1 protein
Structural component of the gap junction, a specialized intercellular structure consisting of a cluster of closely packed pairs of transmembrane channels, the connexons, that allow passage of small molecules and electrical signals between neighboring cells (By similarity). Forms homotypic and heterotypic channels gated by transjunctional voltage (By similarity). May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph (Probable). Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in the conductive system of ventricular myocardium and heart morphogenesis (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization (By similarity). Involved in intercellular innate immune signaling (PubMed:24077100, PubMed:31992625, PubMed:40010341). Mediates translocation of 2',3'-cGAMP and 2',5'-oligoadenylates (2-5A) second messengers from virus-infected cells to macrophages and uninfected neighboring cells to propagate and amplify the antiviral immune response (PubMed:24077100, PubMed:31992625, PubMed:40010341)