Voltage-dependent R-type calcium channel subunit alpha-1E

UniProt Q15878 Organism Homo sapiens Gene CACH6, CACNA1E, CACNL1A6

Also known as: CACH6, CACNA1E, CACNL1A6

Function

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells. They 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-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel. They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing.

Classification

Family (Pfam): PF08763 Ca_chan_IQ, PF16905 GPHH, PF00520 Ion_trans
InterPro: EF_hand_dom, GPHH_dom, Ion_trans_dom, VDCC_a1su_IQ, VDCC_alpha-1_subunit, VDCC_R_a1su, VDCCAlpha1, Volt_channel_dom_sf
Functional cluster: Membrane Transporters & GPCRs

Experimental structures · PDB · 5

3BXL X-ray 2.30A
7XLQ EM 3.10A
7YG5 EM 3.00A
8EPL EM 3.10A
8EPM EM 3.10A

A predicted model is available from AlphaFold.

Gene Ontology · 10

Disease associations

developmental and epileptic encephalopathy, 69 MONDO:0032657

Drugs targeting this protein · 9

PREGABALIN modulator
BEPRIDIL HYDROCHLORIDE blocker
GABAPENTIN ENACARBIL modulator
IMAGABALIN modulator
SULOCTIDIL blocker
PHLOROGLUCINOL blocker
TERODILINE HYDROCHLORIDE blocker
ATAGABALIN modulator
GABAPENTIN modulator

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Voltage-dependent R-type calcium channel subunit alpha-1E 1 shared papers
Voltage-dependent P/Q-type calcium channel subunit alpha-1A 1 shared papers
EF-hand domain-containing protein 1 1 shared papers
EF-hand domain-containing protein 1 1 shared papers

Literature · 6 cited papers

De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias. Am. J. Hum. Genet. · 2018
Crystal structure of the CaV2 IQ domain in complex with Ca2+/calmodulin: high-resolution mechanistic implications for channel regulation by Ca2+. Structure · 2008
The DNA sequence and biological annotation of human chromosome 1. Nature · 2006
Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat. Genet. · 2004
Structure and functional characterization of neuronal alpha 1E calcium channel subtypes. J. Biol. Chem. · 1994
Molecular analysis and functional expression of the human type E neuronal Ca2+ channel alpha 1 subunit. Recept. Channels · 1994

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