| Gene Information | |
|---|---|
| Gene Name | CACNA1A |
| Organism | Homo sapiens (Human) |
| Gene Length | 2506 |
| Protein Names | Voltage-dependent P/Q-type calcium channel subunit alpha-1A (Brain calcium channel I) (BI) (Calcium channel, L type, alpha-1 polypeptide isoform 4) (Voltage-gated calcium channel subunit alpha Cav2.1) |
| Target Name | voltage-dependent p/q-type calcium channel |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000141837 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | O00555 |
| Gene Card | CACNA1A |
| Uniprot ID | O00555 |
| Pfam | PF08763; PF16905; PF00520 |
| In ASD | no |
| Allosteric Prediction | yes (0.909790307) |
| Ortholog in Animals | Alpaca_ CACNA1A ( ortholog_one2one ) Dog_ CACNA1A ( ortholog_one2one ) GuineaPig_ CACNA1A ( ortholog_one2one ) Macaque_ CACNA1A ( ortholog_one2one ) Mouse_ Cacna1a ( ortholog_one2one ) Pig_ CACNA1A ( ortholog_one2one ) Rat_ Cacna1a ( ortholog_one2one ) Rabbit_ CACNA1A ( ortholog_one2one ) |
| Ohnologs | CACNA1B, CACNA1E |
| Paralogs | SCN11A, CACNA1C, CATSPER1, CACNA1E, CACNA1I, SCN9A, CACNA1B, SCN7A, SCN3A, SCN5A, SCN2A, SCN1A, CACNA1F, CACNA1H, CATSPER2, CACNA1G, SCN8A, NALCN, CACNA1D, CATSPER4, SCN10A, CACNA1S, CATSPER3, TPCN1, TPCN2, SCN4A |
| Tissue | brain, stomach, cerebellar.hemisphere, cerebellum |
| Tissue Specificity | Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cells contain predominantly P-type VSCC, the Q-type being a prominent calcium current in cerebellar granule cells. {ECO:0000269|PubMed:1335101}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
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| PDB | 3BXK (X-ray 2.55A ) |
| DBSNP | rs15999 rs886037944 rs121908211 rs121908222 rs121908225 rs121908238 rs121908228 rs121908231 rs121908236 rs121908215 rs121908239 rs121908245 rs41276886 rs121908240 rs121908217 rs121908246 rs121908212 rs886037945 rs121908213 rs121908218 rs16019 rs121908241 rs121908242 rs16020 rs16022 rs16023 rs16024 rs16027 rs16028 rs121908223 rs1568473283 rs121908230 rs121908219 rs121908227 rs121908237 rs121908232 rs121908233 rs121908234 rs1131691374 rs886037946 rs1555740805 rs121908216 rs121908247 rs121908220 rs1057519429 rs121908243 rs121908221 rs121908224 rs121908229 rs121908226 rs121908214 rs121908244 rs121908235 rs16056 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:10049321, ECO:0000269|PubMed:26716990}; Multi-pass membrane protein {ECO:0000255}. |
| Mouse PG classification | NA |
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