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

Details

Name
Voltage-dependent L-type calcium channel subunit alpha-1F
Synonyms
  • CACNAF1
  • Voltage-gated calcium channel subunit alpha Cav1.4
Gene Name
CACNA1F
Organism
Humans
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
high voltage-gated calcium channel activity / metal ion binding / voltage-gated calcium channel activity
Processes
axonogenesis / calcium ion import / cellular calcium ion homeostasis / dendrite morphogenesis / detection of light stimulus involved in visual perception / membrane depolarization during action potential / regulation of T cell receptor signaling pathway / retina development in camera-type eye / T cell homeostasis / visual perception
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
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
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
Chromosome Location
X
Locus
Xp11.23
External Identifiers
ResourceLink
UniProtKB IDO60840
UniProtKB Entry NameCAC1F_HUMAN
GenBank Protein ID3183953
GenBank Gene IDAJ006216
GenAtlas IDCACNA1F
HGNC IDHGNC:1393
General References
  1. 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. [PubMed:9662399]
  2. 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. [PubMed:9662400]
  3. 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. [PubMed:10873387]
  4. 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. Epub 2008 Nov 24. [PubMed:19029287]
  5. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed:15772651]
  6. Fisher SE, Ciccodicola A, Tanaka K, Curci A, Desicato S, D'urso M, Craig IW: Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. Genomics. 1997 Oct 15;45(2):340-7. [PubMed:9344658]
  7. Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT: A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum Genet. 2001 Feb;108(2):91-7. [PubMed:11281458]
  8. Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM: Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur J Hum Genet. 2002 Aug;10(8):449-56. [PubMed:12111638]
  9. Weleber RG: Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). Ophthalmic Genet. 2002 Jun;23(2):71-97. [PubMed:12187427]
  10. 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. [PubMed:15897456]
  11. 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. [PubMed:16960802]
  12. 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. [PubMed:16505158]
  13. 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. [PubMed:17525176]
  14. 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. [PubMed:22194652]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00661VerapamilapprovedyesinhibitorDetails
DB04855DronedaroneapprovedunknownDetails
DB04920Clevidipineapproved, investigationalunknownDetails
DB00393Nimodipineapproved, investigationalyesinhibitorDetails
DB00568Cinnarizineapproved, investigationalyesinhibitorDetails
DB01388Mibefradilinvestigational, withdrawnyesinhibitorDetails
DB09229AranidipineexperimentalyesantagonistDetails
DB00421SpironolactoneapprovedunknowninhibitorDetails
DB11148Butambenapproved, withdrawnyesinhibitorDetails
DB11093Calcium Citrateapproved, investigationalunknownsubstrateDetails
DB11348Calcium PhosphateapprovedunknownsubstrateDetails
DB09089TrimebutineapprovedyesinhibitorDetails
DB09238Manidipineapproved, investigationalyesblockerDetails
DB09236Lacidipineapproved, investigationalyesantagonistDetails
DB09231BenidipineexperimentalyesantagonistDetails
DB09232CilnidipineinvestigationalyesantagonistDetails
DB13746Bioallethrinapproved, experimentalunknownblockerDetails
DB13961Fish oilapproved, nutraceuticalunknowninhibitorDetails
DB00825LevomentholapprovedyesantagonistDetails
DB14481Calcium phosphate dihydrateapprovedunknownDetails