Human Gene CACNA1D (ENST00000288139.11) Description and Page Index
  Description: Homo sapiens calcium voltage-gated channel subunit alpha1 D (CACNA1D), transcript variant 1, mRNA. (from RefSeq NM_000720)
Gencode Transcript: ENST00000288139.11
Gencode Gene: ENSG00000157388.19
Transcript (Including UTRs)
   Position: hg38 chr3:53,494,611-53,813,733 Size: 319,123 Total Exon Count: 49 Strand: +
Coding Region
   Position: hg38 chr3:53,495,167-53,811,406 Size: 316,240 Coding Exon Count: 49 

Page IndexSequence and LinksUniProtKB CommentsProtein StructureOther NamesMethods
Data last updated at UCSC: 2021-06-20 19:51:40

+  Sequence and Links to Tools and Databases
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-  Comments and Description Text from UniProtKB
  ID: CAC1D_HUMAN
DESCRIPTION: RecName: Full=Voltage-dependent L-type calcium channel subunit alpha-1D; AltName: Full=Calcium channel, L type, alpha-1 polypeptide, isoform 2; AltName: Full=Voltage-gated calcium channel subunit alpha Cav1.3;
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, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA).
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 (By similarity). Interacts with RIMBP2 (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex, hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in skeletal muscle.
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.
POLYMORPHISM: A change from seven to eight ATG trinucleotide repeats, resulting in an additional N-terminal methionine, has been found in a patient with non-insulin-dependent diabetes mellitus (NIDDM).
SIMILARITY: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1D subfamily.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005821 - Ion_trans_dom
IPR005452 - LVDCC_a1dsu
IPR014873 - VDCC_a1su_IQ
IPR005446 - VDCC_L_a1su
IPR002077 - VDCCAlpha1

Pfam Domains:
PF08763 - Voltage gated calcium channel IQ domain
PF00520 - Ion transport protein

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3LV3
- X-ray


ModBase Predicted Comparative 3D Structure on Q01668
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+  Other Names for This Gene
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