T3DB: Voltage-dependent L-type calcium channel subunit alpha-1F

Name	Voltage-dependent L-type calcium channel subunit alpha-1F
Synonyms	CACNAF1 Voltage-gated calcium channel subunit alpha Cav1.4
Gene Name	CACNA1F
Organism	Human
Amino acid sequence	>lcl\|BSEQ0037197\|Voltage-dependent L-type calcium channel subunit alpha-1F MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTV AVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFANCVALGVYIPFPEDDS NTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLL EQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHI ALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECR GRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGS FFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS ADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTE TQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVF LNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFV VCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLL LLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGEDWNVVMYDG IMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEK DLPQENEGLVPGVEKEEEEGARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKE KVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFR NHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSS AISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQ LFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALF TVSTFEGWPALLYKAIDAYAEDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITF RAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLI LLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDAL IVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTF IKSFQALPYVALLIAMIFFIYAVIGMQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCA TGEAWQEIMLASLPGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVI MDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCP HRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKR MKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAG LRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVS LPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGT KGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRK PSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAA GEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVAL AKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL
Number of residues	1977
Molecular Weight	220675.9
Theoretical pI	5.96
GO Classification	Functions metal ion binding high voltage-gated calcium channel activity voltage-gated calcium channel activity Processes visual perception dendrite morphogenesis axonogenesis cellular calcium ion homeostasis membrane depolarization during action potential retina development in camera-type eye calcium ion import detection of light stimulus involved in visual perception regulation of T cell receptor signaling pathway T cell homeostasis Components integral component of membrane voltage-gated calcium channel complex
General Function	Voltage-gated calcium channel activity
Specific 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-1F 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).
Pfam Domain Function	Ion_trans (PF00520 ) Ca_chan_IQ (PF08763 ) GPHH (PF16905 ) CAC1F_C (PF16885 )
Transmembrane Regions	93-111 130-149 162-180 202-220 240-259 348-372 530-549 565-583 592-610 621-639 659-679 734-758 872-890 907-926 939-957 964-983 1003-1022 1113-1133 1191-1209 1225-1244 1252-1273 1291-1310 1330-1349 1417-1441
GenBank Protein ID	3183953
UniProtKB ID	O60840
UniProtKB Entry Name	CAC1F_HUMAN
Cellular Location	Membrane
Gene sequence	>lcl\|BSEQ0011693\|Voltage-dependent L-type calcium channel subunit alpha-1F (CACNA1F) ATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGAGCCCAGTCCAGCCAATGGGGCA GGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGT GGGGCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTG GCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCCTCACCCTGGCCAATCCT CTGCGACGGTCCTGCATCAGCATCGTGGAGTGGAAGCCCTTCGACATCCTCATCCTGCTG ACCATCTTTGCCAACTGCGTGGCCCTGGGAGTTTACATCCCCTTCCCTGAGGACGACTCC AACACTGCCAACCACAACCTGGAGCAGGTGGAGTACGTATTCCTGGTGATTTTCACTGTG GAGACGGTGCTCAAGATCGTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGC AATGGCTGGAACCTACTCGACTTCATCATCGTCGTGGTCGGGCTGTTCAGCGTTCTGCTG GAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAAAGCCAGGAGGCTTC GATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTC CCGAGCCTGCACATAGTGCTCAATTCCATCATGAAGGCTCTGGTGCCGCTGCTGCACATT GCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTT GGACGAATGCACAAGACGTGCTACTTCCTGGGATCCGACATGGAAGCGGAGGAGGACCCA TCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACCAGACTGAGTGCCGC GGGCGCTGGCCAGGGCCCAATGGAGGCATCACCAACTTTGACAACTTCTTCTTCGCCATG CTGACAGTCTTCCAGTGTGTCACCATGGAAGGCTGGACCGATGTGCTCTACTGGATGCAA GATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCC TTCTTCGTCCTCAACCTTGTGCTTGGCGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAG AAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGAC CTGCGGGGCTACCTGGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCC GCCGATGACAACCTTGGGCCACAGCTGGCCGAGCTGACCAATAGGAGGCGTGGACGTCTG CGCTGGTTCAGTCATTCTACTCGCTCCACACACTCCACCAGCAGCCATGCCAGCCTCCCA GCCAGTGACACCGGTTCCATGACAGAGACCCAAGGCGATGAGGATGAGGAGGAGGGGGCT CTGGCCAGCTGTACACGCTGCCTAAACAAGATCATGAAAACCAGAGTCTGCCGCCGCCTC CGCCGAGCCAACCGGGTCCTTCGGGCACGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGC TACTGGGCTGTGCTGTTGCTCGTCTTCCTCAACACGTTGACCATCGCCTCTGAGCACCAC GGGCAGCCTGTGTGGCTCACCCAGATCCAGGAGTATGCCAACAAAGTGTTGCTCTGTCTG TTCACGGTGGAGATGCTTCTCAAATTGTACGGTCTGGGCCCCTCTGCCTATGTGTCTTCC TTCTTCAACCGCTTTGACTGCTTTGTGGTCTGTGGGGGCATCCTAGAGACCACCTTGGTG GAGGTGGGTGCCATGCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGG ATCTTTAAGGTCACCAGACACTGGGCTTCTCTGAGCAATCTGGTGGCATCCCTGCTCAAT TCAATGAAATCCATCGCATCCTTGCTGCTTCTCCTCTTCCTCTTCATCATTATCTTCTCC CTGCTTGGCATGCAGCTGTTTGGGGGCAAGTTCAACTTTGACCAGACCCACACCAAGCGA AGCACCTTTGACACGTTCCCCCAGGCCCTCCTCACTGTCTTTCAGATCCTGACAGGTGAG GACTGGAACGTGGTCATGTATGATGGTATCATGGCATATGGTGGCCCCTTCTTCCCAGGA ATGTTGGTGTGCATCTATTTCATCATTCTCTTCATCTGTGGCAACTACATCCTGTTGAAC GTGTTTCTTGCCATTGCTGTGGACAACCTGGCCAGTGGAGATGCAGGCACTGCCAAGGAC AAGGGCGGGGAGAAGAGCAATGAGAAGGATCTCCCACAGGAGAATGAAGGCCTGGTGCCT GGTGTGGAGAAAGAGGAAGAGGAGGGTGCAAGGAGGGAAGGAGCAGACATGGAGGAGGAG GAGGAGGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAGGGTGCAGGGGGTGTGGAA CTCCTGCAGGAAGTTGTACCCAAGGAGAAGGTGGTACCCATCCCTGAGGGCAGCGCCTTC TTCTGCCTCAGCCAAACCAACCCGCTGAGGAAGGGCTGCCACACCCTCATCCACCATCAT GTCTTCACCAATCTTATCCTGGTGTTCATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAG GACCCCATCCGAGCCCACTCCTTCCGCAACCATATTCTGGGTTACTTCGATTATGCCTTC ACCTCCATTTTCACTGTGGAGATTCTACTAAAGATGACAGTGTTTGGGGCCTTCCTGCAC CGCGGCTCCTTCTGCCGTAGCTGGTTTAATATGTTGGATCTGCTGGTGGTCAGTGTGTCC CTCATCTCCTTTGGCATCCACTCCAGCGCCATCTCGGTGGTGAAGATTCTGCGAGTACTC CGAGTACTGCGGCCCCTCCGAGCCATCAACAGGGCCAAGGGACTCAAGCATGTGGTGCAG TGTGTATTTGTGGCCATCCGGACCATCGGAAACATCATGATTGTCACCACACTTCTGCAA TTTATGTTCGCCTGCATCGGGGTGCAGCTCTTCAAGGGGAAATTCTACACCTGCACGGAC GAGGCCAAACACACCCCTCAAGAATGCAAGGGCTCCTTCCTGGTATACCCAGATGGAGAC GTGTCACGGCCCCTGGTCCGGGAGCGGCTCTGGGTCAACAGTGATTTCAACTTTGACAAT GTCCTTTCAGCCATGATGGCCCTGTTCACTGTCTCCACCTTTGAAGGCTGGCCTGCACTG CTATACAAGGCCATCGATGCATATGCAGAGGACCACGGCCCCATCTATAATTACCGTGTG GAGATCTCAGTGTTCTTCATTGTCTACATCATCATCATTGCGTTCTTCATGATGAACATC TTCGTGGGCTTCGTCATCATCACTTTCCGTGCCCAGGGCGAGCAGGAGTACCAAAACTGT GAGCTGGACAAGAACCAGCGTCAATGTGTGGAATATGCCCTCAAGGCCCAGCCACTCCGC CGTTACATCCCCAAGAACCCGCATCAGTATCGTGTGTGGGCCACTGTGAACTCTGCTGCC TTTGAGTACCTGATGTTCCTGCTCATCCTGCTCAACACAGTTGCCCTAGCCATGCAGCAC TATGAGCAGACTGCTCCCTTCAACTATGCCATGGACATCCTCAACATGGTCTTCACTGGC CTCTTCACTATTGAGATGGTGCTCAAAATCATCGCCTTCAAGCCCAAGCATTACTTCACT GATGCCTGGAACACGTTTGACGCTCTTATTGTGGTGGGCAGCATAGTGGATATTGCCGTC ACTGAAGTCAATAATGGTGGCCACCTTGGCGAGAGCTCTGAGGACAGCTCCCGCATTTCC ATTACCTTCTTTCGCCTCTTCCGAGTTATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAA GGGATCCGCACATTGCTCTGGACATTCATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCT CTTCTCATCGCAATGATATTCTTCATCTATGCCGTCATTGGCATGCAGATGTTCGGCAAG GTGGCTCTTCAGGATGGCACACAGATAAACCGAAACAACAACTTCCAGACCTTTCCACAG GCTGTGCTGCTTCTGTTCAGGTGTGCCACTGGTGAGGCATGGCAGGAGATAATGCTTGCC AGCCTTCCCGGAAATCGGTGTGATCCTGAGTCTGACTTCGGCCCTGGTGAAGAGTTTACC TGTGGTAGCAATTTTGCCATCGCCTATTTCATCAGCTTCTTCATGCTCTGTGCCTTCCTG ATCATAAATCTCTTTGTGGCTGTGATCATGGACAACTTTGATTATCTCACCAGAGATTGG TCCATCCTGGGCCCCCATCACCTTGATGAATTCAAGAGGATCTGGTCTGAATATGACCCT GGGGCCAAGGGCCGCATCAAACACTTGGATGTGGTTGCCCTGCTGAGACGTATCCAGCCC CCTCTGGGATTTGGGAAGCTGTGCCCACACCGAGTGGCCTGCAAGAGACTTGTGGCAATG AACATGCCCCTCAACTCAGATGGGACGGTGACATTCAACGCCACACTCTTTGCCCTGGTC CGGACATCCCTGAAGATCAAAACAGAAGGGAACCTGGAGCAAGCCAACCAGGAGCTGCGG ATTGTCATCAAAAAGATCTGGAAGCGGATGAAACAGAAGCTGCTAGATGAGGTCATCCCC CCACCAGACGAGGAGGAGGTCACCGTGGGCAAATTCTACGCCACATTTCTGATCCAGGAC TATTTCCGCAAATTCCGGCGGAGGAAAGAAAAAGGGCTACTAGGCAACGACGCCGCCCCT AGCACCTCTTCCGCCCTTCAGGCTGGTCTGCGGAGCCTGCAGGACTTGGGTCCTGAGATG CGGCAGGCCCTCACCTGTGACACAGAGGAGGAGGAAGAAGAGGGGCAGGAGGGAGTGGAG GAGGAAGATGAAAAGGACTTGGAAACTAACAAAGCCACGATGGTCTCCCAGCCCTCAGCT CGCCGGGGCTCCGGGATTTCTGTGTCTCTGCCTGTCGGGGACAGACTTCCAGATTCACTC TCCTTTGGGCCCAGTGATGATGACAGGGGGACTCCCACCTCCAGTCAGCCCAGTGTGCCC CAGGCTGGATCCAACACCCACAGGAGAGGCTCTGGGGCTCTCATTTTCACCATCCCAGAA GAAGGAAATTCTCAGCCCAAGGGAACCAAAGGGCAAAACAAGCAAGATGAGGATGAGGAA GTCCCTGATCGGCTTTCCTACCTAGATGAGCAGGCAGGGACTCCCCCGTGCTCAGTCCTT TTGCCACCTCACAGAGCTCAGAGATACATGGATGGGCACCTGGTACCACGCCGCCGTCTG CTGCCCCCCACACCTGCAGGTCGGAAGCCCTCCTTCACCATCCAGTGTCTGCAGCGCCAG GGCAGTTGTGAGGATTTACCCATCCCAGGCACCTATCATCGTGGGCGAAATTCAGGGCCC AATAGGGCTCAGGGTTCCTGGGCAACACCACCTCAGCGGGGTCGGCTCCTGTATGCCCCG CTGTTGTTGGTGGAAGAGGGCGCAGCGGGGGAGGGGTACCTCGGCAGATCCAGTGGCCCA CTGCGCACCTTCACCTGTCTGCACGTGCCTGGAACCCACTCGGACCCCAGCCATGGGAAG AGGGGCAGTGCCGACAGCTTGGTGGAGGCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTT GCTCGAGACCCACGTTTCGTGGCCCTGGCCAAGCAGGAGATTGCAGATGCGTGTCGCCTG ACGCTGGATGAGATGGACAATGCTGCCAGTGACCTGCTGGCACAGGGAACCAGCTCTCTC TATAGCGACGAGGAGTCCATCCTCTCCCGCTTCGATGAGGAGGACTTGGGAGACGAGATG GCCTGCGTCCACGCCCTCTGA
GenBank Gene ID	AJ006216
GeneCard ID	Not Available
GenAtlas ID	CACNA1F
HGNC ID	HGNC:1393
Chromosome Location	X
Locus	Xp11.23
References	Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Ruther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A: An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):260-3. 9662399 Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM: Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):264-7. 9662400 Naylor MJ, Rancourt DE, Bech-Hansen NT: Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness. Genomics. 2000 Jun 15;66(3):324-7. 10873387 Sinnegger-Brauns MJ, Huber IG, Koschak A, Wild C, Obermair GJ, Einzinger U, Hoda JC, Sartori SB, Striessnig J: Expression and 1,4-dihydropyridine-binding properties of brain L-type calcium channel isoforms. Mol Pharmacol. 2009 Feb;75(2):407-14. doi: 10.1124/mol.108.049981. 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Eur J Hum Genet. 2002 Aug;10(8):449-56. 12111638 Weleber RG: Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). Ophthalmic Genet. 2002 Jun;23(2):71-97. 12187427 Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J, Sharp DM, Lundon-Treweek P, Clover GM, Hoda JC, Striessnig J, Marksteiner R, Hering S, Maw MA: A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. Proc Natl Acad Sci U S A. 2005 May 24;102(21):7553-8. Epub 2005 May 16. 15897456 Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Matyas G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W: Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet. 2006 Oct;79(4):657-67. Epub 2006 Aug 23. 16960802 Jalkanen R, Mantyjarvi M, Tobias R, Isosomppi J, Sankila EM, Alitalo T, Bech-Hansen NT: X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J Med Genet. 2006 Aug;43(8):699-704. Epub 2006 Feb 27. 16505158 Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mantyjarvi M, Forsius H, de la Chapelle A, Alitalo T: A novel CACNA1F gene mutation causes Aland Island eye disease. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502. 17525176 Vincent A, Wright T, Day MA, Westall CA, Heon E: A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. Mol Vis. 2011;17:3262-70. Epub 2011 Dec 15. 22194652