| Gene Information | |
|---|---|
| Gene Name | GJAL |
| Organism | Homo sapiens (Human) |
| Gene Length | 382 |
| Protein Names | Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P17302 |
| Gene Card | GJA1 |
| Uniprot ID | P17302 |
| Pfam | PF00029; PF03508 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in the heart and fetal cochlea. {ECO:0000269|PubMed:11741837}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.04(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 2LL2 (NMR - ) 7F92 (EM 3.10A ) 7F93 (EM 3.60A ) 7F94 (EM 3.60A ) |
| DBSNP | rs864309644 rs121912969 rs104893961 rs104893962 rs104893963 rs104893964 rs1554200992 rs794729675 rs267606844 rs267606845 rs28931601 rs1554201011 rs1554201017 rs28931600 rs1057518872 rs962041031 rs2228961 rs104893966 rs750294638 rs397518464 rs1554201043 rs875989815 rs764670582 rs17653265 rs2227885 rs104893965 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:22411987, ECO:0000269|PubMed:25398053}; Multi-pass membrane protein {ECO:0000255}. Cell junction, gap junction {ECO:0000269|PubMed:22411987, ECO:0000269|PubMed:25398053}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P23242}. Note=Localizes at the intercalated disk (ICD) in cardiomyocytes and the proper localization at ICD is dependent on TMEM65. {ECO:0000250|UniProtKB:P23242}. |
| Mouse PG classification | NA |
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