LOCUS NP_001243719 1912 aa linear PRI 18-NOV-2023
DEFINITION voltage-dependent L-type calcium channel subunit alpha-1F isoform 3
[Homo sapiens].
ACCESSION NP_001243719
VERSION NP_001243719.1
DBSOURCE REFSEQ: accession NM_001256790.3
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 1912)
AUTHORS Marziali E, Van Den Broeck F, Bargiacchi S, Fortunato P, Caputo R,
Sodi A, De Zaeytijd J, Murro V, Mucciolo DP, Giorgio D, Passerini
I, Palazzo V, Peluso F, de Baere E, Zeitz C, Leroy BP, Secci J and
Bacci GM.
TITLE Optic nerve involvement in CACNA1F-related disease: observations
from a multicentric case series
JOURNAL Ophthalmic Genet 44 (2), 152-162 (2023)
PUBMED 36469668
REMARK GeneRIF: Optic nerve involvement in CACNA1F-related disease:
observations from a multicentric case series.
REFERENCE 2 (residues 1 to 1912)
AUTHORS Sallah SR, Sergouniotis PI, Hardcastle C, Ramsden S, Lotery AJ,
Lench N, Lovell SC and Black GCM.
TITLE Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants
Using Structural Modeling
JOURNAL J Mol Diagn 24 (12), 1232-1239 (2022)
PUBMED 36191840
REMARK GeneRIF: Assessing the Pathogenicity of In-Frame CACNA1F Indel
Variants Using Structural Modeling.
REFERENCE 3 (residues 1 to 1912)
AUTHORS Tan GM, Yu D, Wang J and Soong TW.
TITLE Alternative splicing at C terminus of Ca(V)1.4 calcium channel
modulates calcium-dependent inactivation, activation potential, and
current density
JOURNAL J Biol Chem 287 (2), 832-847 (2012)
PUBMED 22069316
REFERENCE 4 (residues 1 to 1912)
AUTHORS Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake
Y, Bergen AA, Pierpont ME, Pearce WG and Bech-Hansen NT.
TITLE A summary of 20 CACNA1F mutations identified in 36 families with
incomplete X-linked congenital stationary night blindness, and
characterization of splice variants
JOURNAL Hum Genet 108 (2), 91-97 (2001)
PUBMED 11281458
REFERENCE 5 (residues 1 to 1912)
AUTHORS Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman
GA, Mets M, Musarella MA and Boycott KM.
TITLE Loss-of-function mutations in a calcium-channel alpha1-subunit gene
in Xp11.23 cause incomplete X-linked congenital stationary night
blindness
JOURNAL Nat Genet 19 (3), 264-267 (1998)
PUBMED 9662400
REFERENCE 6 (residues 1 to 1912)
AUTHORS 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 and Meindl A.
TITLE An L-type calcium-channel gene mutated in incomplete X-linked
congenital stationary night blindness
JOURNAL Nat Genet 19 (3), 260-263 (1998)
PUBMED 9662399
REFERENCE 7 (residues 1 to 1912)
AUTHORS Fisher SE, Ciccodicola A, Tanaka K, Curci A, Desicato S, D'urso M
and Craig IW.
TITLE Sequence-based exon prediction around the synaptophysin locus
reveals a gene-rich area containing novel genes in human proximal
Xp
JOURNAL Genomics 45 (2), 340-347 (1997)
PUBMED 9344658
REFERENCE 8 (residues 1 to 1912)
AUTHORS Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ, Meire F, Tijmes
N and de Jong PT.
TITLE Conclusive evidence for a distinct congenital stationary night
blindness locus in Xp21.1
JOURNAL J Med Genet 33 (10), 869-872 (1996)
PUBMED 8933343
REFERENCE 9 (residues 1 to 1912)
AUTHORS Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ and Tijmes N.
TITLE Localization of a novel X-linked congenital stationary night
blindness locus: close linkage to the RP3 type retinitis pigmentosa
gene region
JOURNAL Hum Mol Genet 4 (5), 931-935 (1995)
PUBMED 7633454
REFERENCE 10 (residues 1 to 1912)
AUTHORS MacDonald,I.M., Hoang,S. and Tuupanen,S.
TITLE X-Linked Congenital Stationary Night Blindness
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301423
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF201304.1, AF067227.1 and
AC232271.2.
Summary: This gene encodes a multipass transmembrane protein that
functions as an alpha-1 subunit of the voltage-dependent calcium
channel, which mediates the influx of calcium ions into the cell.
The encoded protein forms a complex of alpha-1, alpha-2/delta,
beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene
can cause X-linked eye disorders, including congenital stationary
night blindness type 2A, cone-rod dystropy, and Aland Island eye
disease. Alternatively spliced transcript variants encoding
multiple isoforms have been observed. [provided by RefSeq, Aug
2013].
Transcript Variant: This variant (3) uses two alternate splice
sites in the 5' coding region, but maintains the reading frame,
compared to variant 1. The encoded isoform (3) is shorter than
isoform 1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF067227.1 [ECO:0000332]
RNAseq introns :: partial sample support SAMEA1965299,
SAMEA1966682 [ECO:0000350]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..1912
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp11.23"
Protein 1..1912
/product="voltage-dependent L-type calcium channel subunit
alpha-1F isoform 3"
/note="calcium channel, voltage-dependent, L type, alpha
1F subunit; voltage-gated calcium channel subunit alpha
Cav1.4"
/calculated_mol_wt=213903
Region 26..318
/region_name="Ion_trans"
/note="Ion transport protein; pfam00520"
/db_xref="CDD:425730"
Region 467..698
/region_name="Ion_trans"
/note="Ion transport protein; pfam00520"
/db_xref="CDD:425730"
Region 805..1042
/region_name="Ion_trans"
/note="Ion transport protein; pfam00520"
/db_xref="CDD:425730"
Region 1124..1387
/region_name="Ion_trans"
/note="Ion transport protein; pfam00520"
/db_xref="CDD:425730"
Region 1396..1449
/region_name="GPHH"
/note="Voltage-dependent L-type calcium channel,
IQ-associated; pfam16905"
/db_xref="CDD:435642"
Region 1459..1533
/region_name="Ca_chan_IQ"
/note="Voltage gated calcium channel IQ domain; pfam08763"
/db_xref="CDD:430200"
Region 1554..1909
/region_name="CAC1F_C"
/note="Voltage-gated calcium channel subunit alpha,
C-term; pfam16885"
/db_xref="CDD:435629"
CDS 1..1912
/gene="CACNA1F"
/gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
/coded_by="NM_001256790.3:32..5770"
/note="isoform 3 is encoded by transcript variant 3"
/db_xref="CCDS:CCDS59166.1"
/db_xref="GeneID:778"
/db_xref="HGNC:HGNC:1393"
/db_xref="MIM:300110"
ORIGIN
1 mseseggkge rilpslqtlg asivewkpfd ililltifan cvalgvyipf peddsntanh
61 nleqveyvfl viftvetvlk ivayglvlhp sayirngwnl ldfiivvvgl fsvlleqgpg
121 rpgdaphtgg kpggfdvkal rafrvlrplr lvsgvpslhi vlnsimkalv pllhiallvl
181 fviiiyaiig lelflgrmhk tcyflgsdme aeedpspcas sgsgractln qtecrgrwpg
241 pnggitnfdn fffamltvfq cvtmegwtdv lywmqdamgy elpwvyfvsl vifgsffvln
301 lvlgvlsgef skerekakar gdfqkqrekq qmeedlrgyl dwitqaeeld medpsaddnl
361 gsmaeegrag hrpqlaeltn rrrgrlrwfs hstrsthsts shaslpasdt gsmtetqgde
421 deeegalasc trclnkimkt rvcrrlrran rvlrarcrra vksnacywav lllvflntlt
481 iasehhgqpv wltqiqeyan kvllclftve mllklyglgp sayvssffnr fdcfvvcggi
541 lettlvevga mqplgisvlr cvrllrifkv trhwaslsnl vasllnsmks iaslllllfl
601 fiiifsllgm qlfggkfnfd qthtkrstfd tfpqalltvf qiltgedwnv vmydgimayg
661 gpffpgmlvc iyfiilficg nyillnvfla iavdnlasgd agtakdkgge ksnekdlpqe
721 neglvpgvek eeeegarreg admeeeeeee eeeeeeeeee gaggvellqe vvpkekvvpi
781 pegsaffcls qtnplrkgch tlihhhvftn lilvfiilss vslaaedpir ahsfrnhilg
841 yfdyaftsif tveillkmtv fgaflhrgsf crswfnmldl lvvsvslisf gihssaisvv
901 kilrvlrvlr plrainrakg lkhvvqcvfv airtignimi vttllqfmfa cigvqlfkgk
961 fytctdeakh tpqeckgsfl vypdgdvsrp lvrerlwvns dfnfdnvlsa mmalftvstf
1021 egwpallyka idayaedhgp iynyrveisv ffivyiiiia ffmmnifvgf viitfraqge
1081 qeyqnceldk nqrqcveyal kaqplrryip knphqyrvwa tvnsaafeyl mfllillntv
1141 alamqhyeqt apfnyamdil nmvftglfti emvlkiiafk pkhyftdawn tfdalivvgs
1201 ivdiavtevn ngghlgesse dssrisitff rlfrvmrlvk llskgegirt llwtfiksfq
1261 alpyvallia miffiyavig mqmfgkvalq dgtqinrnnn fqtfpqavll lfrcatgeaw
1321 qeimlaslpg nrcdpesdfg pgeeftcgsn faiayfisff mlcafliinl fvavimdnfd
1381 yltrdwsilg phhldefkri wseydpgakg rikhldvval lrriqpplgf gklcphrvac
1441 krlvamnmpl nsdgtvtfna tlfalvrtsl kiktegnleq anqelrivik kiwkrmkqkl
1501 ldevipppde eevtvgkfya tfliqdyfrk frrrkekgll gndaapstss alqaglrslq
1561 dlgpemrqal tcdteeeeee gqegveeede kdletnkatm vsqpsarrgs gisvslpvgd
1621 rlpdslsfgp sdddrgtpts sqpsvpqags nthrrgsgal iftipeegns qpkgtkgqnk
1681 qdedeevpdr lsyldeqagt ppcsvllpph raqrymdghl vprrrllppt pagrkpsfti
1741 qclqrqgsce dlpipgtyhr grnsgpnraq gswatppqrg rllyaplllv eegaagegyl
1801 grssgplrtf tclhvpgths dpshgkrgsa dslveavlis eglglfardp rfvalakqei
1861 adacrltlde mdnaasdlla qgtsslysde esilsrfdee dlgdemacvh al
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