voltage-dependent Ca+2 channel alpha-1F (L type, Cav1.4, CACNA1F, CACNAF1)

Function

• pore-forming & voltage-sensitive alpha-1 subunit of voltage-sensitive Ca+2 channel
• alpha-1F gives rise to L-type Ca+2 currents
  • L-type Ca+2 channels (long-lasting) belong to the 'high-voltage activated' (HVA) group
  • blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, & by omega-agatoxin-IIIA (omega-Aga-IIIA)
  • insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) & omega-agatoxin-IVA (omega-Aga-IVA)
• interacts with CABP4 (putative)

Structure

• each of the 4 internal repeats contains 5 hydrophobic transmembrane segments (S1, S2, S3, S5, S6) & one positively charged transmembrane segment (S4)
• S4 segments probably represent the voltage-sensor & are characterized by a series of positively charged amino acids at every third position
• belongs to the Ca+2 channel alpha-1 subunit (TC 1.A.1.11) family

Compartment

membrane

Alternative splicing

named isoforms=3

Expression

expressed in skeletal muscle & retina

Pathology

• defects in CACNA1F are the cause of
  • congenital stationary night blindness type 2A
  • cone-rod dystrophy X-linked type 3
  • Aaland island eye disease

More general terms

• voltage-dependent Ca+2 channel alpha-1

Component of

• L-type Ca+2 channel, long duration or slowly inactivating Ca+2 channel or dihydropyridine receptor (R-type Ca+2 channel)

Database

• OMIM: https://mirror.omim.org/entry/300071
• OMIM: https://mirror.omim.org/entry/300110
• OMIM: https://mirror.omim.org/entry/300476
• OMIM: https://mirror.omim.org/entry/300600
• UniProt: http://www.uniprot.org/uniprot/O60840.html