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
- UniProtKB Entry
- O60840Swiss-Prot
- Organism
- Humans
- NCBI Taxonomy ID
- 9606
- 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
- Processescalcium ion import across plasma membrane / negative regulation of voltage-gated calcium channel activityComponentsmembrane / perikaryon / photoreceptor outer segment
- General 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, and by benzothiazepines. Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization
- Specific Function
- high voltage-gated calcium channel activity
- Pfam Domain Function
- Signal Regions
- Not Available
- 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
Resource Link UniProtKB ID O60840 UniProtKB Entry Name CAC1F_HUMAN GenBank Protein ID 3183953 GenBank Gene ID AJ006216 GeneCard ID CACNA1F GenAtlas ID CACNA1F HGNC ID HGNC:1393 KEGG ID hsa:778 IUPHAR/Guide To Pharmacology ID 531 NCBI Gene ID 778 - General 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- Weleber RG: Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). Ophthalmic Genet. 2002 Jun;23(2):71-97. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
Associated Data
- Bio-Entities
- Drug Relations
Drug Drug group Pharmacological action? Type Actions Details Dronedarone approved yes target inhibitor Details Clevidipine approved, investigational yes target Details Nimodipine approved, investigational yes target inhibitor Details Cinnarizine approved, investigational yes target inhibitor Details Mibefradil investigational, withdrawn yes target inhibitor Details Aranidipine experimental yes target antagonist Details Butamben approved, withdrawn yes target inhibitor Details Bioallethrin approved, experimental unknown target agonist Details Ergocalciferol approved, nutraceutical no target inducer Details Enflurane approved, investigational, vet_approved yes target inhibitoractivator Details Verapamil approved unknown target inhibitor Details Nicardipine approved, investigational unknown target inhibitor Details Efonidipine experimental yes target inhibitor Details Drotaverine approved, investigational unknown target inhibitor Details Calcium citrate approved, investigational unknown transporter substrate Details Calcium Phosphate approved unknown transporter substrate Details Trimebutine approved yes target inhibitor Details Manidipine approved, investigational yes target blocker Details Lacidipine approved, investigational yes target antagonist Details Benidipine experimental yes target antagonist Details Cilnidipine investigational yes target antagonist Details Bioallethrin approved, experimental unknown target blocker Details Levomenthol approved yes target antagonist Details Calcium phosphate dihydrate approved unknown transporter Details Phenytoin approved, vet_approved yes target inhibitor Details Magnesium sulfate approved, investigational, vet_approved yes target inhibitorblocker Details Nitrendipine approved, investigational unknown target inhibitor Details Spironolactone approved unknown target inhibitor Details Amiodarone approved, investigational unknown target inhibitor Details Fish oil approved, nutraceutical unknown target inhibitor Details Ranolazine approved, investigational unknown target inhibitor Details Topiramate approved yes target antagonist Details Miconazole approved, investigational, vet_approved unknown target inhibitor Details Efonidipine experimental yes target blocker Details Nilvadipine approved, investigational unknown target blocker Details