Voltage-dependent L-type calcium channel subunit alpha-1D

UniProt Q01668 Organism Homo sapiens Gene CACH3, CACN4, CACNA1D, CACNL1A2, CCHL1A2

Also known as: CACH3, CACN4, CACNA1D, CACNL1A2, CCHL1A2

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.

Classification

Family (Pfam): PF08763 Ca_chan_IQ, PF16885 CAC1F_C, PF16905 GPHH, PF00520 Ion_trans
InterPro: CAC1F_C, GPHH_dom, Ion_trans_dom, LVDCC_a1dsu, VDCC_a1su_IQ, VDCC_alpha-1_subunit, VDCC_L_a1su, VDCCAlpha1, Volt_channel_dom_sf
Functional cluster: Membrane Transporters & GPCRs

Experimental structures · PDB · 6

3LV3 X-ray 1.94A
7UHF EM 3.10A
7UHG EM 3.00A
8E59 EM 3.10A
8E5A EM 3.30A
8E5B EM 3.30A

A predicted model is available from AlphaFold.

Gene Ontology · 25

Disease associations

sinoatrial node dysfunction and deafness MONDO:0013960
aldosterone-producing adenoma with seizures and neurological abnormalities MONDO:0014200

Drugs targeting this protein · 36

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Fatty acid synthase 1 shared papers
Voltage-dependent L-type calcium channel subunit beta-3 1 shared papers
Voltage-dependent P/Q-type calcium channel subunit alpha-1A 1 shared papers
F-box-like/WD repeat-containing protein TBL1XR1 1 shared papers
Voltage-dependent L-type calcium channel subunit beta-1 1 shared papers
Voltage-dependent calcium channel subunit alpha-2/delta-1 1 shared papers

Literature · 14 cited papers

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy. Hum. Mol. Genet. · 2017
CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels. Biol. Psychiatry · 2015
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat. Genet. · 2013
De novo gene disruptions in children on the autistic spectrum. Neuron · 2012
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature · 2012
Loss of recognition by cross-reactive T cells and its relation to a C-terminus-induced conformational reorientation of an HLA-B*2705-bound peptide. Protein Sci. · 2011
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat. Neurosci. · 2011
Modulation of voltage- and Ca2+-dependent gating of CaV1.3 L-type calcium channels by alternative splicing of a C-terminal regulatory domain. J. Biol. Chem. · 2008
The DNA sequence, annotation and analysis of human chromosome 3. Nature · 2006
Genomic structure of the regulatory region of the voltage-gated calcium channel alpha 1D. Exp. Mol. Med. · 1998
The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes. Genomics · 1995
Molecular diversity of neuronal-type calcium channels identified in small cell lung carcinoma. Mayo Clin. Proc. · 1992
… and 2 more in the literature graph

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