Hmdb loader
Identification
HMDB Protein ID HMDBP07494
Secondary Accession Numbers
  • 13202
Name Voltage-dependent L-type calcium channel subunit alpha-1F
Synonyms
  1. Voltage-gated calcium channel subunit alpha Cav1.4
Gene Name CACNA1F
Protein Type Unknown
Biological Properties
General Function Involved in ion 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)
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
membrane part
ion channel complex
cation channel complex
macromolecular complex
intrinsic to membrane
protein complex
integral to membrane
calcium channel complex
voltage-gated calcium channel complex
Function
transmembrane transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
transporter activity
ion channel activity
cation channel activity
calcium channel activity
voltage-gated calcium channel activity
Process
di-, tri-valent inorganic cation transport
divalent metal ion transport
calcium ion transport
establishment of localization
transport
transmembrane transport
ion transport
cation transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs CACNA1F
Gene Sequence
>5934 bp
ATGTCGGAATCTGAAGGCGGGAAAGACACCACCCCAGAGCCCAGTCCAGCCAATGGGGCA
GGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGT
GGGGCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTG
GCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCCTCACCCTGGCCAATCCT
CTGCGACGGTCCTGCATCAGCATCGTGGAGTGGAAGCCCTTCGACATCCTCATCCTGCTG
ACCATCTTTGCCAACTGCGTGGCCCTGGGAGTTTACATCCCCTTCCCTGAGGACGACTCC
AACACTGCCAACCACAACCTGGAGCAGGTGGAGTACGTATTCCTGGTGATTTTCACTGTG
GAGACGGTGCTCAAGATCGTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGC
AATGGCTGGAACCTACTCGACTTCATCATCGTCGTGGTCGGGCTGTTCAGCGTTCTGCTG
GAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAAAGCCAGGAGGCTTC
GATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTC
CCGAGCCTGCACATAGTGCTCAATTCCATCATGAAGGCTCTGGTGCCGCTGCTGCACATT
GCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTT
GGACGAATGCACAAGACGTGCTACTTCCTGGGATCCGACATGGAAGCGGAGGAGGACCCA
TCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACCAGACTGAGTGCCGC
GGGCGCTGGCCAGGGCCCAATGGAGGCATCACCAACTTTGACAACTTCTTCTTCGCCATG
CTGACAGTCTTCCAGTGTGTCACCATGGAAGGCTGGACCGATGTGCTCTACTGGATGCAA
GATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCC
TTCTTCGTCCTCAACCTTGTGCTTGGCGTCCTGAGTGGGGAGTTCTCCAAGGAGAGAGAG
AAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGAC
CTGCGGGGCTACCTGGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCC
GCCGATGACAACCTTGGTTCTATGGCTGAAGAGGGCCGGGCGGGCCATCGGCCACAGCTG
GCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCC
ACACACTCCACCAGCAGCCATGCCAGCCTCCCAGCCAGTGACACCGGTTCCATGACAGAG
ACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCTAAAC
AAGATCATGAAAACCAGAGTCTGCCGCCGCCTCCGCCGAGCCAACCGGGTCCTTCGGGCA
CGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTC
CTCAACACGTTGACCATCGCCTCTGAGCACCACGGGCAGCCTGTGTGGCTCACCCAGATC
CAGGAGTATGCCAACAAAGTGTTGCTCTGTCTGTTCACGGTGGAGATGCTTCTCAAATTG
TACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTG
GTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGTGGGCGCCATGCAGCCCTTGGGC
ATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAGACACTGGGCT
TCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTG
CTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTGGCATGCAGCTGTTTGGGGGC
AAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCC
CTCCTCACTGTCTTTCAGATCCTGACAGGTGAGGACTGGAACGTGGTCATGTATGATGGT
ATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATT
CTCTTCATCTGTGGCAACTACATCCTGTTGAACGTGTTTCTTGCCATTGCTGTGGACAAC
CTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGGGGAGAAGAGCAATGAGAAG
GATCTCCCACAGGAGAATGAAGGCCTGGTGCCTGGTGTGGAGAAAGAGGAAGAGGAGGGT
GCAAGGAGGGAAGGAGCAGACATGGAGGAGGAGGAGGAGGAGGAAGAAGAGGAAGAAGAG
GAAGAAGAGGAAGAGGGTGCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAG
AAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCCGCTG
AGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTC
ATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCCATCCGAGCCCACTCCTTCCGC
AACCATATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGAGATTCTA
CTAAAGATGACAGTGTTTGGGGCCTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTT
AATATGTTGGATCTGCTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCACTCCAGC
GCCATCTCGGTGGTGAAGATTCTGCGAGTACTCCGAGTACTGCGGCCCCTCCGAGCCATC
AACAGGGCCAAGGGACTCAAGCATGTGGTGCAGTGTGTATTTGTGGCCATCCGGACCATC
GGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATCGGGGTGCAG
CTCTTCAAGGGGAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGC
AAGGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAGCGG
CTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTC
ACTGTCTCCACCTTTGAAGGCTGGCCTGCACTGCTATACAAGGCCATCGATGCATATGCA
GAGGACCATGGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTAC
ATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTC
CGTGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAGCGTCAATGT
GTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATCCCCAAGAACCCGCATCAG
TATCGTGTGTGGGCCACTGTGAACTCTGCTGCCTTTGAGTACCTGATGTTCCTGCTCATC
CTGCTCAACACAGTTGCCCTAGCCATGCAGCACTATGAGCAGACTGCTCCCTTCAACTAT
GCCATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTGAGATGGTGCTCAAA
ATCATCGCCTTCAAGCCCAAGCATTACTTCACTGATGCCTGGAACACGTTTGACGCTCTT
ATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAATAATGGTGGCCACCTT
GGCGAGAGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTCCGAGTT
ATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTC
ATCAAGTCCTTCCAGGCCTTGCCCTATGTGGCTCTTCTCATCGCAATGATATTCTTCATC
TATGCCGTCATTGGCATGCAGATGTTCGGCAAGGTGGCTCTTCAGGATGGCACACAGATA
AACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGCTTCTGTTCAGGTGTGCC
ACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCT
GAGTCTGACTTCGGCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTAT
TTCATCAGCTTCTTCATGCTCTGTGCCTTCCTGATCATAAATCTCTTTGTGGCTGTGATC
ATGGACAACTTTGATTATCTCACCAGAGATTGGTCCATCCTGGGCCCCCATCACCTTGAT
GAATTCAAGAGGATCTGGTCTGAATATGACCCTGGGGCCAAGGGCCGCATCAAACACTTG
GATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCCA
CACCGAGTGGCCTGCAAGAGACTTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACG
GTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAA
GGGAACCTGGAGCAAGCCAACCAGGAGCTGCGGATTGTCATCAAAAAGATCTGGAAGCGG
ATGAAACAGAAGCTGCTAGATGAGGTCATCCCCCCACCAGACGAGGAGGAGGTCACCGTG
GGCAAATTCTACGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAA
GAAAAAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAGGCTGGT
CTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCTCACCTGTGACACAGAG
GAGGAGGAAGAAGAGGGGCAGGAGGGAGTGGAGGAGGAAGATGAAAAGGACTTGGAAACT
AACAAAGCCACGATGGTCTCCCAGCCCTCAGCTCGCCGGGGCTCCGGGATTTCTGTGTCT
CTGCCTGTCGGGGACAGACTTCCAGATTCACTCTCCTTTGGGCCCAGTGATGATGACAGG
GGGACTCCCACCTCCAGTCAGCCCAGTGTGCCCCAGGCTGGATCCAACACCCACAGGAGA
GGCTCTGGGGCTCTCATTTTCACCATCCCAGAAGAAGGAAATTCTCAGCCCAAGGGAACC
AAAGGGCAAAACAAGCAAGATGAGGATGAGGAAGTCCCTGATCGGCTTTCCTACCTAGAT
GAGCAGGCAGGGACTCCCCCGTGCTCAGTCCTTTTGCCACCTCACAGAGCTCAGAGATAC
ATGGATGGGCACCTGGTACCACGCCGCCGTCTGCTGCCCCCCACACCTGCAGGTCGGAAG
CCCTCCTTCACCATCCAGTGTCTGCAGCGCCAGGGCAGTTGTGAGGATTTACCCATCCCA
GGCACCTATCATCGTGGGCGAAATTCAGGGCCCAATAGGGCTCAGGGTTCCTGGGCAACA
CCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAGCG
GGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTG
CCTGGAACCCACTCGGACCCCAGCCATGGGAAGAGGGGCAGTGCCGACAGCTTGGTGGAG
GCTGTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTG
GCCAAGCAGGAGATTGCAGATGCGTGTCGCCTGACGCTGGATGAGATGGACAATGCTGCC
AGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAGGAGTCCATCCTCTCC
CGCTTCGATGAGGAGGACTTGGGAGACGAGATGGCCTGCGTCCACGCCCTCTGA
Protein Properties
Number of Residues 1977
Molecular Weight 220675.9
Theoretical pI 6.0
Pfam Domain Function
Signals
  • None
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
Protein Sequence
>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
GenBank ID Protein 53832007
UniProtKB/Swiss-Prot ID O60840
UniProtKB/Swiss-Prot Entry Name CAC1F_HUMAN
PDB IDs
GenBank Gene ID NM_005183.2
GeneCard ID CACNA1F
GenAtlas ID CACNA1F
HGNC ID HGNC:1393
References
General References
  1. 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 ]
  2. 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 ]
  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. 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 ]
  5. 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 ]
  6. 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 ]
  7. Weleber RG: Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). Ophthalmic Genet. 2002 Jun;23(2):71-97. [PubMed:12187427 ]
  8. 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 ]
  9. 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 ]
  10. 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 ]
  11. 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 ]