| Gene Information | |
|---|---|
| Gene Name | CACNA1C |
| Organism | Homo sapiens (Human) |
| Gene Length | 2221 |
| Protein Names | Voltage-dependent L-type calcium channel subunit alpha-1C (Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle) (Voltage-gated calcium channel subunit alpha Cav1.2) |
| Target Name | voltage gated l-type calcium channel |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000151067 ) 3 ( ENSG00000285479 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q13936 |
| Gene Card | CACNA1C |
| Uniprot ID | Q13936 |
| Pfam | PF08763; PF16885; PF16905; PF00520 |
| In ASD | yes |
| Allosteric Prediction | yes (1.661245598) |
| Ortholog in Animals | Alpaca_ CACNA1C ( ortholog_one2one ) GuineaPig_ CACNA1C ( ortholog_one2one ) Macaque_ CACNA1C ( ortholog_one2one ) Mouse_ Cacna1c ( ortholog_one2one ) Pig_ CACNA1C ( ortholog_one2one ) Rat_ Cacna1c ( ortholog_one2one ) Rabbit_ CACNA1C ( ortholog_one2one ) |
| Ohnologs | CACNA1F, CACNA1S, CACNA1D |
| Paralogs | SCN11A, CATSPER1, CACNA1E, CACNA1I, SCN9A, CACNA1B, SCN7A, SCN3A, SCN5A, SCN2A, SCN1A, CACNA1A, CACNA1F, CACNA1H, CATSPER2, CACNA1G, SCN8A, NALCN, CACNA1D, CATSPER4, SCN10A, CACNA1S, CATSPER3, TPCN1, TPCN2, SCN4A |
| Tissue | NA |
| Tissue Specificity | Detected throughout the brain, including hippocampus, cerebellum and amygdala, throughout the heart and vascular system, including ductus arteriosus, in urinary bladder, and in retina and sclera in the eye (PubMed:15454078). Expressed in brain, heart, jejunum, ovary, pancreatic beta-cells and vascular smooth muscle. Overall expression is reduced in atherosclerotic vascular smooth muscle. {ECO:0000269|PubMed:12176756, ECO:0000269|PubMed:15454078, ECO:0000269|PubMed:17071743, ECO:0000269|PubMed:8392192}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 1T0J (X-ray 2.00A ) 2BE6 (X-ray 2.00A ) 2F3Y (X-ray 1.45A ) 2F3Z (X-ray 1.60A ) 2LQC (NMR - ) 3G43 (X-ray 2.10A ) 3OXQ (X-ray 2.55A ) 5V2P (X-ray 2.00A ) 5V2Q (X-ray 1.70A ) 6C0A (NMR - ) 6DAD (X-ray 1.65A ) 6DAE (X-ray 2.00A ) 6DAF (X-ray 2.40A ) 6U39 (X-ray 2.40A ) 6U3A (X-ray 1.65A ) 6U3B (X-ray 1.70A ) 6U3D (X-ray 1.75A ) 7L8V (NMR - ) |
| DBSNP | rs1051345 rs1051356 rs10848683 rs10774053 rs10774054 rs112414325 rs771424529 rs549476254 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:11741969, ECO:0000269|PubMed:12176756, ECO:0000269|PubMed:12181424, ECO:0000269|PubMed:15454078, ECO:0000269|PubMed:15863612, ECO:0000269|PubMed:16299511, ECO:0000269|PubMed:17071743, ECO:0000269|PubMed:17224476, ECO:0000269|PubMed:20953164, ECO:0000269|PubMed:24728418, ECO:0000269|PubMed:26253506, ECO:0000269|PubMed:27218670, ECO:0000269|PubMed:29078335, ECO:0000269|PubMed:29742403, ECO:0000269|PubMed:7737988, ECO:0000269|PubMed:8099908, ECO:0000269|PubMed:8392192, ECO:0000269|PubMed:9013606, ECO:0000269|PubMed:9087614, ECO:0000269|PubMed:9607315}; Multi-pass membrane protein {ECO:0000305}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P15381}; Multi-pass membrane protein {ECO:0000305}. Perikaryon {ECO:0000250|UniProtKB:P22002}. Postsynaptic density membrane {ECO:0000250|UniProtKB:P22002}. Cell projection, dendrite {ECO:0000250|UniProtKB:P22002}. Cell membrane, sarcolemma, T-tubule {ECO:0000250|UniProtKB:Q01815}. Note=Colocalizes with ryanodine receptors in distinct clusters at the junctional membrane, where the sarcolemma and the sarcoplasmic reticulum are in close contact. The interaction between RRAD and CACNB2 promotes the expression of CACNA1C at the cell membrane. {ECO:0000250|UniProtKB:P15381}. |
| Mouse PG classification | NA |
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