| Gene Information | |
|---|---|
| Gene Name | CACN1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1873 |
| Protein Names | Voltage-dependent L-type calcium channel subunit alpha-1S (Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle) (Voltage-gated calcium channel subunit alpha Cav1.1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q13698 |
| Gene Card | CACNA1S |
| Uniprot ID | Q13698 |
| Pfam | PF08763; PF16905; PF00520 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Skeletal muscle specific. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001000(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 2VAY (X-ray 1.94A ) 6B27 (X-ray 1.73A ) |
| DBSNP | rs12406479 rs12742169 rs80338778 rs80338777 rs1800559 rs28930069 rs28930068 rs3850625 rs13374149 rs12139527 rs1042379 |
| Subcellular location [CC] | Cell membrane, sarcolemma, T-tubule {ECO:0000250|UniProtKB:P07293}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P07293}. |
| Mouse PG classification | NA |
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