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UniProtKB - O60840 (CAC1F_HUMAN)

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Protein

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

Gene

CACNA1F

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Isoform 1: 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.1 Publication
Isoform 4: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exhibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations.1 Publication
Isoform 6: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei330Calcium ion selectivity and permeabilityBy similarity1
Sitei711Calcium ion selectivity and permeabilityBy similarity1
Sitei1086Calcium ion selectivity and permeabilityBy similarity1
Sitei1383Calcium ion selectivity and permeabilityBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi1470 – 1481By similarityAdd BLAST12

GO - Molecular functioni

  • high voltage-gated calcium channel activity Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • voltage-gated calcium channel activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • detection of light stimulus involved in visual perception Source: UniProtKB
  • membrane depolarization during action potential Source: GO_Central
  • negative regulation of voltage-gated calcium channel activity Source: UniProtKB
  • regulation of ion transmembrane transport Source: UniProtKB-KW
  • regulation of T cell receptor signaling pathway Source: InterPro
  • T cell homeostasis Source: InterPro
  • visual perception Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionCalcium channel, Ion channel, Voltage-gated channel
Biological processCalcium transport, Ion transport, Sensory transduction, Transport, Vision
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-5576893 Phase 2 - plateau phase

Protein family/group databases

TCDBi1.A.1.11.11 the voltage-gated ion channel (vic) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
Voltage-dependent L-type calcium channel subunit alpha-1FCurated
Alternative name(s):
Voltage-gated calcium channel subunit alpha Cav1.4
Gene namesi
Name:CACNA1FImported
Synonyms:CACNAF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000102001.12
HGNCiHGNC:1393 CACNA1F
MIMi300110 gene
neXtProtiNX_O60840

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 92CytoplasmicSequence analysisAdd BLAST92
Transmembranei93 – 111Helical; Name=S1 of repeat ISequence analysisAdd BLAST19
Topological domaini112 – 129ExtracellularSequence analysisAdd BLAST18
Transmembranei130 – 149Helical; Name=S2 of repeat ISequence analysisAdd BLAST20
Topological domaini150 – 161CytoplasmicSequence analysisAdd BLAST12
Transmembranei162 – 180Helical; Name=S3 of repeat ISequence analysisAdd BLAST19
Topological domaini181 – 201ExtracellularSequence analysisAdd BLAST21
Transmembranei202 – 220Helical; Name=S4 of repeat ISequence analysisAdd BLAST19
Topological domaini221 – 239CytoplasmicSequence analysisAdd BLAST19
Transmembranei240 – 259Helical; Name=S5 of repeat ISequence analysisAdd BLAST20
Topological domaini260 – 347ExtracellularSequence analysisAdd BLAST88
Transmembranei348 – 372Helical; Name=S6 of repeat ISequence analysisAdd BLAST25
Topological domaini373 – 529CytoplasmicSequence analysisAdd BLAST157
Transmembranei530 – 549Helical; Name=S1 of repeat IISequence analysisAdd BLAST20
Topological domaini550 – 564ExtracellularSequence analysisAdd BLAST15
Transmembranei565 – 583Helical; Name=S2 of repeat IISequence analysisAdd BLAST19
Topological domaini584 – 591CytoplasmicSequence analysis8
Transmembranei592 – 610Helical; Name=S3 of repeat IISequence analysisAdd BLAST19
Topological domaini611 – 620ExtracellularSequence analysis10
Transmembranei621 – 639Helical; Name=S4 of repeat IISequence analysisAdd BLAST19
Topological domaini640 – 658CytoplasmicSequence analysisAdd BLAST19
Transmembranei659 – 679Helical; Name=S5 of repeat IISequence analysisAdd BLAST21
Topological domaini680 – 733ExtracellularSequence analysisAdd BLAST54
Transmembranei734 – 758Helical; Name=S6 of repeat IISequence analysisAdd BLAST25
Topological domaini759 – 871CytoplasmicSequence analysisAdd BLAST113
Transmembranei872 – 890Helical; Name=S1 of repeat IIISequence analysisAdd BLAST19
Topological domaini891 – 906ExtracellularSequence analysisAdd BLAST16
Transmembranei907 – 926Helical; Name=S2 of repeat IIISequence analysisAdd BLAST20
Topological domaini927 – 938CytoplasmicSequence analysisAdd BLAST12
Transmembranei939 – 957Helical; Name=S3 of repeat IIISequence analysisAdd BLAST19
Topological domaini958 – 963ExtracellularSequence analysis6
Transmembranei964 – 983Helical; Name=S4 of repeat IIISequence analysisAdd BLAST20
Topological domaini984 – 1002CytoplasmicSequence analysisAdd BLAST19
Transmembranei1003 – 1022Helical; Name=S5 of repeat IIISequence analysisAdd BLAST20
Topological domaini1023 – 1112ExtracellularSequence analysisAdd BLAST90
Transmembranei1113 – 1133Helical; Name=S6 of repeat IIISequence analysisAdd BLAST21
Topological domaini1134 – 1190CytoplasmicSequence analysisAdd BLAST57
Transmembranei1191 – 1209Helical; Name=S1 of repeat IVSequence analysisAdd BLAST19
Topological domaini1210 – 1224ExtracellularSequence analysisAdd BLAST15
Transmembranei1225 – 1244Helical; Name=S2 of repeat IVSequence analysisAdd BLAST20
Topological domaini1245 – 1251CytoplasmicSequence analysis7
Transmembranei1252 – 1273Helical; Name=S3 of repeat IVSequence analysisAdd BLAST22
Topological domaini1274 – 1290ExtracellularSequence analysisAdd BLAST17
Transmembranei1291 – 1310Helical; Name=S4 of repeat IVSequence analysisAdd BLAST20
Topological domaini1311 – 1329CytoplasmicSequence analysisAdd BLAST19
Transmembranei1330 – 1349Helical; Name=S5 of repeat IVSequence analysisAdd BLAST20
Topological domaini1350 – 1416ExtracellularSequence analysisAdd BLAST67
Transmembranei1417 – 1441Helical; Name=S6 of repeat IVSequence analysisAdd BLAST25
Topological domaini1442 – 1977CytoplasmicSequence analysisAdd BLAST536

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Night blindness, congenital stationary, 2A (CSNB2A)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
See also OMIM:300071
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03080874C → R in CSNB2A. 1 Publication1
Natural variantiVAR_030809150G → R in CSNB2A. 1 Publication1
Natural variantiVAR_030810229S → P in CSNB2A. 1 Publication1
Natural variantiVAR_030811261G → R in CSNB2A. 1 Publication1
Natural variantiVAR_001504369G → D in CSNB2A. 3 PublicationsCorresponds to variant dbSNP:rs122456133EnsemblClinVar.1
Natural variantiVAR_001505519R → Q in CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs34162630EnsemblClinVar.1
Natural variantiVAR_030812635V → I in CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs141010716EnsemblClinVar.1
Natural variantiVAR_030813674G → D in CSNB2A. 1 Publication1
Natural variantiVAR_030814753F → C in CSNB2A. 1 Publication1
Natural variantiVAR_030815756I → T in CSNB2A; increases the number of mutant channels open at physiologic membrane potential and allows for persistent Ca(2+) entry due to reduced channel inactivation resulting in a gain-of-function defect. 1 PublicationCorresponds to variant dbSNP:rs122456136EnsemblClinVar.1
Natural variantiVAR_030816860L → P in CSNB2A. 1 Publication1
Natural variantiVAR_030817928A → D in CSNB2A. 1 Publication1
Natural variantiVAR_0308181018G → R in CSNB2A. 1 Publication1
Natural variantiVAR_0015061060R → W in CSNB2A. 2 Publications1
Natural variantiVAR_0308191079L → P in CSNB2A. 1 Publication1
Natural variantiVAR_0015071375L → H in CSNB2A. 1 Publication1
Natural variantiVAR_0308201499C → R in CSNB2A. 1 Publication1
Natural variantiVAR_0308211500P → R in CSNB2A. 1 Publication1
Natural variantiVAR_0308221508L → P in CSNB2A. 1 Publication1
Cone-rod dystrophy, X-linked 3 (CORDX3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
See also OMIM:300476
Aaland island eye disease (AIED)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions.
See also OMIM:300600

Keywords - Diseasei

Cone-rod dystrophy, Congenital stationary night blindness, Disease mutation

Organism-specific databases

DisGeNETi778
GeneReviewsiCACNA1F
MalaCardsiCACNA1F
MIMi300071 phenotype
300476 phenotype
300600 phenotype
OpenTargetsiENSG00000102001
Orphaneti178333 Aland Islands eye disease
1872 Cone rod dystrophy
215 Congenital stationary night blindness
PharmGKBiPA26010

Chemistry databases

ChEMBLiCHEMBL2363032
DrugBankiDB00568 Cinnarizine
DB04920 Clevidipine
DB04855 Dronedarone
DB01388 Mibefradil
DB00393 Nimodipine
DB00421 Spironolactone
DB00661 Verapamil
GuidetoPHARMACOLOGYi531

Polymorphism and mutation databases

BioMutaiCACNA1F

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000539501 – 1977Voltage-dependent L-type calcium channel subunit alpha-1FAdd BLAST1977

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi295N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1452Phosphoserine; by PKASequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiO60840
PeptideAtlasiO60840
PRIDEiO60840
ProteomicsDBi49626
49627 [O60840-2]

PTM databases

iPTMnetiO60840
PhosphoSitePlusiO60840

Expressioni

Tissue specificityi

Expression in skeletal muscle and retina (PubMed:10873387). Isoform 4 is expressed in retina (PubMed:27226626).2 Publications

Gene expression databases

BgeeiENSG00000102001
CleanExiHS_CACNA1F
ExpressionAtlasiO60840 baseline and differential
GenevisibleiO60840 HS

Organism-specific databases

HPAiHPA068379

Interactioni

Subunit structurei

Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts (via IQ domain) with CABP4; in a calcium independent manner (By similarity). Isoform 4: interacts with CABP4; suppreses robust calcium-dependent inactivation of channel whithout enhances the hyperpolarized voltage-dependent activation (PubMed:27226626).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CABP4P57796-12EBI-14063123,EBI-14063133

Protein-protein interaction databases

BioGridi107232, 1 interactor
IntActiO60840, 3 interactors
STRINGi9606.ENSP00000365441

Chemistry databases

BindingDBiO60840

Structurei

3D structure databases

ProteinModelPortaliO60840
SMRiO60840
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati79 – 375IAdd BLAST297
Repeati515 – 761IIAdd BLAST247
Repeati858 – 1140IIIAdd BLAST283
Repeati1177 – 1444IVAdd BLAST268

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni395 – 412Binding to the beta subunitBy similarityAdd BLAST18
Regioni1060 – 1150Dihydropyridine bindingBy similarityAdd BLAST91
Regioni1397 – 1463Dihydropyridine bindingBy similarityAdd BLAST67
Regioni1409 – 1452Phenylalkylamine bindingBy similarityAdd BLAST44

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi659 – 665Poly-Leu7
Compositional biasi794 – 799Poly-Glu6
Compositional biasi809 – 825Poly-GluAdd BLAST17
Compositional biasi1121 – 1124Poly-Ile4
Compositional biasi1640 – 1645Poly-Glu6

Domaini

Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.

Sequence similaritiesi

Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1F subfamily. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2301 Eukaryota
ENOG410XNP6 LUCA
GeneTreeiENSGT00830000128247
HOGENOMiHOG000231529
HOVERGENiHBG050763
InParanoidiO60840
KOiK04853
OMAiLNQTECR
OrthoDBiEOG091G0TKO
PhylomeDBiO60840
TreeFamiTF312805

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR031688 CAC1F_C
IPR031649 GPHH_dom
IPR005821 Ion_trans_dom
IPR014873 VDCC_a1su_IQ
IPR030157 VDCC_L_a1F
IPR005446 VDCC_L_a1su
IPR002077 VDCCAlpha1
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR10037:SF184 PTHR10037:SF184, 1 hit
PfamiView protein in Pfam
PF08763 Ca_chan_IQ, 1 hit
PF16885 CAC1F_C, 1 hit
PF16905 GPHH, 1 hit
PF00520 Ion_trans, 4 hits
PRINTSiPR00167 CACHANNEL
PR01630 LVDCCALPHA1
SMARTiView protein in SMART
SM01062 Ca_chan_IQ, 1 hit

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60840-1) [UniParc]FASTAAdd to basket
Also known as: Cav1.4FL1 Publication

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSESEGGKDT TPEPSPANGA GPGPEWGLCP GPPAVEGESS GASGLGTPKR 
        60         70         80         90        100
RNQHSKHKTV AVASAQRSPR ALFCLTLANP LRRSCISIVE WKPFDILILL 
       110        120        130        140        150
TIFANCVALG VYIPFPEDDS NTANHNLEQV EYVFLVIFTV ETVLKIVAYG 
       160        170        180        190        200
LVLHPSAYIR NGWNLLDFII VVVGLFSVLL EQGPGRPGDA PHTGGKPGGF 
       210        220        230        240        250
DVKALRAFRV LRPLRLVSGV PSLHIVLNSI MKALVPLLHI ALLVLFVIII 
       260        270        280        290        300
YAIIGLELFL GRMHKTCYFL GSDMEAEEDP SPCASSGSGR ACTLNQTECR 
       310        320        330        340        350
GRWPGPNGGI TNFDNFFFAM LTVFQCVTME GWTDVLYWMQ DAMGYELPWV 
       360        370        380        390        400
YFVSLVIFGS FFVLNLVLGV LSGEFSKERE KAKARGDFQK QREKQQMEED 
       410        420        430        440        450
LRGYLDWITQ AEELDMEDPS ADDNLGSMAE EGRAGHRPQL AELTNRRRGR 
       460        470        480        490        500
LRWFSHSTRS THSTSSHASL PASDTGSMTE TQGDEDEEEG ALASCTRCLN 
       510        520        530        540        550
KIMKTRVCRR LRRANRVLRA RCRRAVKSNA CYWAVLLLVF LNTLTIASEH 
       560        570        580        590        600
HGQPVWLTQI QEYANKVLLC LFTVEMLLKL YGLGPSAYVS SFFNRFDCFV 
       610        620        630        640        650
VCGGILETTL VEVGAMQPLG ISVLRCVRLL RIFKVTRHWA SLSNLVASLL 
       660        670        680        690        700
NSMKSIASLL LLLFLFIIIF SLLGMQLFGG KFNFDQTHTK RSTFDTFPQA 
       710        720        730        740        750
LLTVFQILTG EDWNVVMYDG IMAYGGPFFP GMLVCIYFII LFICGNYILL 
       760        770        780        790        800
NVFLAIAVDN LASGDAGTAK DKGGEKSNEK DLPQENEGLV PGVEKEEEEG 
       810        820        830        840        850
ARREGADMEE EEEEEEEEEE EEEEEGAGGV ELLQEVVPKE KVVPIPEGSA 
       860        870        880        890        900
FFCLSQTNPL RKGCHTLIHH HVFTNLILVF IILSSVSLAA EDPIRAHSFR 
       910        920        930        940        950
NHILGYFDYA FTSIFTVEIL LKMTVFGAFL HRGSFCRSWF NMLDLLVVSV 
       960        970        980        990       1000
SLISFGIHSS AISVVKILRV LRVLRPLRAI NRAKGLKHVV QCVFVAIRTI 
      1010       1020       1030       1040       1050
GNIMIVTTLL QFMFACIGVQ LFKGKFYTCT DEAKHTPQEC KGSFLVYPDG 
      1060       1070       1080       1090       1100
DVSRPLVRER LWVNSDFNFD NVLSAMMALF TVSTFEGWPA LLYKAIDAYA 
      1110       1120       1130       1140       1150
EDHGPIYNYR VEISVFFIVY IIIIAFFMMN IFVGFVIITF RAQGEQEYQN 
      1160       1170       1180       1190       1200
CELDKNQRQC VEYALKAQPL RRYIPKNPHQ YRVWATVNSA AFEYLMFLLI 
      1210       1220       1230       1240       1250
LLNTVALAMQ HYEQTAPFNY AMDILNMVFT GLFTIEMVLK IIAFKPKHYF 
      1260       1270       1280       1290       1300
TDAWNTFDAL IVVGSIVDIA VTEVNNGGHL GESSEDSSRI SITFFRLFRV 
      1310       1320       1330       1340       1350
MRLVKLLSKG EGIRTLLWTF IKSFQALPYV ALLIAMIFFI YAVIGMQMFG 
      1360       1370       1380       1390       1400
KVALQDGTQI NRNNNFQTFP QAVLLLFRCA TGEAWQEIML ASLPGNRCDP 
      1410       1420       1430       1440       1450
ESDFGPGEEF TCGSNFAIAY FISFFMLCAF LIINLFVAVI MDNFDYLTRD 
      1460       1470       1480       1490       1500
WSILGPHHLD EFKRIWSEYD PGAKGRIKHL DVVALLRRIQ PPLGFGKLCP 
      1510       1520       1530       1540       1550
HRVACKRLVA MNMPLNSDGT VTFNATLFAL VRTSLKIKTE GNLEQANQEL 
      1560       1570       1580       1590       1600
RIVIKKIWKR MKQKLLDEVI PPPDEEEVTV GKFYATFLIQ DYFRKFRRRK 
      1610       1620       1630       1640       1650
EKGLLGNDAA PSTSSALQAG LRSLQDLGPE MRQALTCDTE EEEEEGQEGV 
      1660       1670       1680       1690       1700
EEEDEKDLET NKATMVSQPS ARRGSGISVS LPVGDRLPDS LSFGPSDDDR 
      1710       1720       1730       1740       1750
GTPTSSQPSV PQAGSNTHRR GSGALIFTIP EEGNSQPKGT KGQNKQDEDE 
      1760       1770       1780       1790       1800
EVPDRLSYLD EQAGTPPCSV LLPPHRAQRY MDGHLVPRRR LLPPTPAGRK 
      1810       1820       1830       1840       1850
PSFTIQCLQR QGSCEDLPIP GTYHRGRNSG PNRAQGSWAT PPQRGRLLYA 
      1860       1870       1880       1890       1900
PLLLVEEGAA GEGYLGRSSG PLRTFTCLHV PGTHSDPSHG KRGSADSLVE 
      1910       1920       1930       1940       1950
AVLISEGLGL FARDPRFVAL AKQEIADACR LTLDEMDNAA SDLLAQGTSS 
      1960       1970 
LYSDEESILS RFDEEDLGDE MACVHAL
Length:1,977
Mass (Da):220,678
Last modified:April 14, 2009 - v2
Checksum:i354336550C6D8E73
GO
Isoform 2 (identifier: O60840-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     427-437: Missing.

Show »
Length:1,966
Mass (Da):219,496
Checksum:iFEB47E19FA57E31D
GO
Isoform 3 (identifier: O60840-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     9-86: DTTPEPSPAN...LANPLRRSCI → GERILPSLQTLGA

Show »
Length:1,912
Mass (Da):214,033
Checksum:i0E2C45C8E4156E0D
GO
Isoform 4 (identifier: O60840-5) [UniParc]FASTAAdd to basket
Also known as: Cav1.4Deltaex p45,471 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1756-1775: Missing.
     1836-1901: Missing.

Show »
Length:1,891
Mass (Da):211,691
Checksum:i1CA7887FD0D2B6EC
GO
Isoform 5 (identifier: O60840-6) [UniParc]FASTAAdd to basket
Also known as: Cav1.4Deltaex p451 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1756-1775: Missing.

Show »
Length:1,957
Mass (Da):218,559
Checksum:i3257113F2AFF98BA
GO
Isoform 6 (identifier: O60840-7) [UniParc]FASTAAdd to basket
Also known as: Cav1.4Deltaex 471 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1836-1901: Missing.

Show »
Length:1,911
Mass (Da):213,810
Checksum:i88A83ECD1F6D0861
GO

Sequence cautioni

The sequence AAB92359 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1236E → V in AAB92359 (PubMed:9344658).Curated1
Sequence conflicti1860A → G in AAB92359 (PubMed:9344658).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03080714P → L. Corresponds to variant dbSNP:rs6520408EnsemblClinVar.1
Natural variantiVAR_03080874C → R in CSNB2A. 1 Publication1
Natural variantiVAR_030809150G → R in CSNB2A. 1 Publication1
Natural variantiVAR_030810229S → P in CSNB2A. 1 Publication1
Natural variantiVAR_030811261G → R in CSNB2A. 1 Publication1
Natural variantiVAR_001504369G → D in CSNB2A. 3 PublicationsCorresponds to variant dbSNP:rs122456133EnsemblClinVar.1
Natural variantiVAR_001505519R → Q in CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs34162630EnsemblClinVar.1
Natural variantiVAR_071433603G → R in AIED and CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs201654095Ensembl.1
Natural variantiVAR_030812635V → I in CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs141010716EnsemblClinVar.1
Natural variantiVAR_030813674G → D in CSNB2A. 1 Publication1
Natural variantiVAR_029376746N → T1 PublicationCorresponds to variant dbSNP:rs141159097EnsemblClinVar.1
Natural variantiVAR_030814753F → C in CSNB2A. 1 Publication1
Natural variantiVAR_030815756I → T in CSNB2A; increases the number of mutant channels open at physiologic membrane potential and allows for persistent Ca(2+) entry due to reduced channel inactivation resulting in a gain-of-function defect. 1 PublicationCorresponds to variant dbSNP:rs122456136EnsemblClinVar.1
Natural variantiVAR_030816860L → P in CSNB2A. 1 Publication1
Natural variantiVAR_030817928A → D in CSNB2A. 1 Publication1
Natural variantiVAR_0308181018G → R in CSNB2A. 1 Publication1
Natural variantiVAR_0015061060R → W in CSNB2A. 2 Publications1
Natural variantiVAR_0308191079L → P in CSNB2A. 1 Publication1
Natural variantiVAR_0556621259A → T. Corresponds to variant dbSNP:rs34308720Ensembl.1
Natural variantiVAR_0318221270A → T. Corresponds to variant dbSNP:rs34308720Ensembl.1
Natural variantiVAR_0015071375L → H in CSNB2A. 1 Publication1
Natural variantiVAR_0308201499C → R in CSNB2A. 1 Publication1
Natural variantiVAR_0308211500P → R in CSNB2A. 1 Publication1
Natural variantiVAR_0308221508L → P in CSNB2A. 1 Publication1
Natural variantiVAR_0548181930R → H. Corresponds to variant dbSNP:rs33910054EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0451729 – 86DTTPE…RRSCI → GERILPSLQTLGA in isoform 3. 1 PublicationAdd BLAST78
Alternative sequenceiVSP_036785427 – 437Missing in isoform 2. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_0589231756 – 1775Missing in isoform 4 and isoform 5. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_0589241836 – 1901Missing in isoform 4 and isoform 6. 1 PublicationAdd BLAST66

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ006216 Genomic DNA Translation: CAA06916.1
AF067227 mRNA Translation: AAD03587.1
AJ224874 mRNA Translation: CAA12175.1
AF201304 mRNA Translation: AAF15290.1
JF701915 mRNA Translation: AED89557.1
AF196779 Genomic DNA No translation available.
AF235097 Genomic DNA No translation available.
U93305 Genomic DNA Translation: AAB92359.1 Sequence problems.
CCDSiCCDS35253.1 [O60840-1]
CCDS59166.1 [O60840-4]
CCDS59167.1 [O60840-2]
RefSeqiNP_001243718.1, NM_001256789.2 [O60840-2]
NP_001243719.1, NM_001256790.2 [O60840-4]
NP_005174.2, NM_005183.3 [O60840-1]
UniGeneiHs.632799

Genome annotation databases

EnsembliENST00000323022; ENSP00000321618; ENSG00000102001 [O60840-2]
ENST00000376251; ENSP00000365427; ENSG00000102001 [O60840-4]
ENST00000376265; ENSP00000365441; ENSG00000102001 [O60840-1]
GeneIDi778
KEGGihsa:778
UCSCiuc004dnb.3 human [O60840-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCAC1F_HUMAN
AccessioniPrimary (citable) accession number: O60840
Secondary accession number(s): A6NI29
, F5CIQ9, O43901, O95226, Q9UHB1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: April 14, 2009
Last modified: July 18, 2018
This is version 184 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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