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Details on Person UniProt:Q99246-3 Cacna1d
| Class:Id | ReferenceIsoform:221114 |
|---|---|
| _chainChangeLog | chain:1-2179 added on Fri February 6 2015 |
| _displayName | UniProt:Q99246-3 Cacna1d |
| _timestamp | 2025-02-21 18:34:44 |
| chain | chain:1-2179 |
| checksum | BEED5EF140E75782 |
| comment | FUNCTION Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines.CATALYTIC ACTIVITY Ca(2+)(in) = Ca(2+)(out)SUBUNIT Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts (via IQ domain) with CABP1 and CABP4 in a calcium independent manner. Interacts with RIMBP2 (By similarity).SUBCELLULAR LOCATION Expressed in the inner hair cells (IHC) of the cochlea.DEVELOPMENTAL STAGE Isoform 2 and isoform 3 are expressed in heart at 12.5 dpc (at protein level). Expressed in the heart at 9.5, 12.5 and 15.5 dpc. Isoform 2 and isoform 3 are expressed in heart at 9.5 and 12.5 dpc.INDUCTION Up-regulated in CACNA1C knockout mice.DOMAIN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.DISRUPTION PHENOTYPE deafness, bradycardia and diabetic traits.SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1D subfamily. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Voltage-dependent L-type calcium channel subunit alpha-1D alternativeName: Calcium channel, L type, alpha-1 polypeptide isoform 2 alternativeName: Voltage-gated calcium channel subunit alpha Cav1.3 |
| geneName | Cacna1d Cach3 Cacn4 Cacnl1a2 Cchl1a2 |
| identifier | Q99246 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Calcium Calcium channel Calcium transport Coiled coil Disulfide bond Ion channel Ion transport Membrane Metal-binding Phosphoprotein Reference proteome Repeat Transmembrane Transmembrane helix Transport Voltage-gated channel |
| modified | [InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12 [InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39 [InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18 [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 [InstanceEdit:423310] Kanapin, AA [InstanceEdit:435478] Kanapin, AA [InstanceEdit:435871] Kanapin, AA [InstanceEdit:447347] Kanapin, AA [InstanceEdit:525883] Kanapin, AA [InstanceEdit:613449] Kanapin, AA [InstanceEdit:797602] Kanapin, AA [InstanceEdit:937368] Yung, CK [InstanceEdit:1042053] Yung, CK [InstanceEdit:1220657] Yung, CK [InstanceEdit:1300696] Yung, CK [InstanceEdit:1301627] Yung, CK [InstanceEdit:1551960] Weiser, JD [InstanceEdit:1995863] Weiser, JD [InstanceEdit:2132304] Weiser, JD [InstanceEdit:2265580] Weiser, JD [InstanceEdit:3132113] Weiser, JD [InstanceEdit:3445779] Weiser, JD [InstanceEdit:5433710] Weiser, JD [InstanceEdit:5618415] Weiser, JD [InstanceEdit:5634237] Weiser, JD [InstanceEdit:5673015] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9616384] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9657908] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | Cacna1d |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| secondaryIdentifier | CAC1D_MOUSE Q7TSD2 Q8R2I9 Q8R2J0 |
| sequenceLength | 2179 |
| species | [Species:48892] Mus musculus |
| variantIdentifier | Q99246-3 |
| (referenceEntity) | [EntityWithAccessionedSequence:264549] Voltage-gated calcium channel Cav1.3-3 [plasma membrane] [Mus musculus] |
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No pathways have been reviewed or authored by UniProt:Q99246-3 Cacna1d (221114)
