Voltage-dependent T-type calcium channel subunit alpha-1H
Also known as: CACNA1H
Function
Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons. In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia.
Classification
- Family (Pfam)
- PF00520 Ion_trans
- InterPro
- Ion_trans_dom, VDCC_alpha-1_subunit, VDCC_T_a1, Volt_channel_dom_sf
- Functional cluster
- G Protein-Coupled Receptors
Experimental structures · PDB · 5
A predicted model is available from AlphaFold.
Gene Ontology · 22
- GO:0016020 membrane
- GO:0005886 plasma membrane
- GO:0005891 voltage-gated calcium channel complex
- GO:0008331 high voltage-gated calcium channel activity
- GO:0008332 low voltage-gated calcium channel activity
- GO:0046872 metal ion binding
- GO:0097110 scaffold protein binding
- GO:0005245 voltage-gated calcium channel activity
- GO:0005244 voltage-gated monoatomic ion channel activity
- GO:0032342 aldosterone biosynthetic process
- GO:0070509 calcium ion import
- GO:0098703 calcium ion import across plasma membrane
- GO:0032870 cellular response to hormone stimulus
- GO:0035865 cellular response to potassium ion
- GO:0034651 cortisol biosynthetic process
- GO:0006936 muscle contraction
- GO:0007517 muscle organ development
- GO:0007520 myoblast fusion
- GO:2000344 positive regulation of acrosome reaction
- GO:0008016 regulation of heart contraction
- GO:0042391 regulation of membrane potential
- GO:0055085 transmembrane transport
Disease associations
- epilepsy, childhood absence, susceptibility to, 6 MONDO:0012763
- hyperaldosteronism, familial, type IV MONDO:0014875
Drugs targeting this protein · 18
- PREGABALIN modulator
- PARAMETHADIONE blocker
- BEPRIDIL HYDROCHLORIDE blocker
- MIBEFRADIL DIHYDROCHLORIDE blocker
- GABAPENTIN ENACARBIL modulator
- SUVECALTAMIDE modulator
- IMAGABALIN modulator
- ABT-639 blocker
- SULOCTIDIL blocker
- APINOCALTAMIDE blocker
- PHLOROGLUCINOL blocker
- TERODILINE HYDROCHLORIDE blocker
- ATAGABALIN modulator
- TRIMETHADIONE blocker
- ETHOSUXIMIDE blocker
- METHSUXIMIDE blocker
- PHENSUXIMIDE blocker
- GABAPENTIN modulator
Related proteins · sequence + function similarity
- Voltage-dependent T-type calcium channel subunit alpha-1H 0.97
- Voltage-dependent T-type calcium channel subunit alpha-1H 0.96
- Voltage-dependent T-type calcium channel subunit alpha-1I 0.94
- Voltage-dependent T-type calcium channel subunit alpha-1G 0.93
- Voltage-dependent T-type calcium channel subunit alpha-1I 0.93
- Voltage-dependent T-type calcium channel subunit alpha-1G 0.93
- Voltage-dependent L-type calcium channel subunit alpha-1F 0.87
- Voltage-dependent L-type calcium channel subunit alpha-1F 0.87
- Voltage-dependent N-type calcium channel subunit alpha-1B 0.80
- Potassium voltage-gated channel subfamily A member 5 0.80
- Voltage-dependent N-type calcium channel subunit alpha-1B 0.79
- Potassium voltage-gated channel subfamily A member 5 0.79
Co-cited proteins · studied together in the literature
- Voltage-dependent T-type calcium channel subunit alpha-1H 2 shared papers
- Vesicular inhibitory amino acid transporter 1 shared papers
- Vesicular inhibitory amino acid transporter 1 shared papers
- SH3 and cysteine-rich domain-containing protein 1 shared papers
- Protein FAM185A 1 shared papers
- Solute carrier family 2, facilitated glucose transporter member 1 1 shared papers
- Proteasome assembly chaperone 4 1 shared papers
- Solute carrier family 2, facilitated glucose transporter member 1 1 shared papers
- Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 1 shared papers
- Activity-dependent neuroprotector homeobox protein 1 shared papers
- Melanocyte-stimulating hormone receptor 1 shared papers
- NACHT, LRR and PYD domains-containing protein 5 1 shared papers
Literature · 17 cited papers
- De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission. Ann. Neurol. · 2022
- Mutations in disordered regions can cause disease by creating dileucine motifs. Cell · 2018
- Genetic modifiers of multiple sclerosis progression, severity and onset. Clin. Immunol. · 2017
- Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes. Hum. Mutat. · 2017
- CACNA1H mutations are associated with different forms of primary aldosteronism. EBioMedicine · 2016
- A Cav3.2/Stac1 molecular complex controls T-type channel expression at the plasma membrane. Channels · 2016
- Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron · 2015
- Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. Elife · 2015
- Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility. J. Physiol. (Lond.) · 2014
- Structural determinants of the high affinity extracellular zinc binding site on Cav3.2 T-type calcium channels. J. Biol. Chem. · 2010
- The sequence and analysis of duplication-rich human chromosome 16. Nature · 2004
- Genetic variation of CACNA1H in idiopathic generalized epilepsy. Ann. Neurol. · 2004
- … and 5 more in the literature graph
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