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Protein

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

Gene

CACNA1F

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).

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

GO - Biological processi

  • cardiac conduction Source: Reactome
  • detection of light stimulus involved in visual perception Source: UniProtKB
  • membrane depolarization during action potential Source: GO_Central
  • regulation of T cell receptor signaling pathway Source: InterPro
  • T cell homeostasis Source: InterPro
  • visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel, Voltage-gated channel

Keywords - Biological processi

Calcium transport, Ion transport, Sensory transduction, Transport, Vision

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000102001-MONOMER.
ReactomeiR-HSA-5576892. Phase 0 - rapid depolarisation.
R-HSA-5576893. Phase 2 - plateau phase.
R-HSA-5576894. Phase 1 - inactivation of fast Na+ channels.

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-1F
Alternative name(s):
Voltage-gated calcium channel subunit alpha Cav1.4
Gene namesi
Name:CACNA1F
Synonyms:CACNAF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:1393. CACNA1F.

Subcellular locationi

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

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
  • perikaryon Source: Ensembl
  • photoreceptor outer segment Source: Ensembl
  • plasma membrane Source: Reactome
  • voltage-gated calcium channel complex Source: UniProtKB
Complete GO annotation...

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 rs122456133dbSNPEnsembl.1
Natural variantiVAR_001505519R → Q in CSNB2A. 1 PublicationCorresponds to variant rs34162630dbSNPEnsembl.1
Natural variantiVAR_071433603G → R in AIED and CSNB2A. 1 PublicationCorresponds to variant rs201654095dbSNPEnsembl.1
Natural variantiVAR_030812635V → I in CSNB2A. 1 PublicationCorresponds to variant rs141010716dbSNPEnsembl.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 rs122456136dbSNPEnsembl.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.
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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071433603G → R in AIED and CSNB2A. 1 PublicationCorresponds to variant rs201654095dbSNPEnsembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi778.
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.
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...)Sequence analysis1
Modified residuei1452Phosphoserine; by PKASequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiO60840.
PeptideAtlasiO60840.
PRIDEiO60840.

PTM databases

iPTMnetiO60840.
PhosphoSitePlusiO60840.

Expressioni

Tissue specificityi

Expression in skeletal muscle and retina.1 Publication

Gene expression databases

BgeeiENSG00000102001.
CleanExiHS_CACNA1F.
ExpressionAtlasiO60840. baseline and differential.
GenevisibleiO60840. HS.

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).By similarity

Protein-protein interaction databases

BioGridi107232. 1 interactor.
IntActiO60840. 2 interactors.
STRINGi9606.ENSP00000365441.

Chemistry databases

BindingDBiO60840.

Structurei

3D structure databases

ProteinModelPortaliO60840.
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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di1.20.120.350. 5 hits.
InterProiIPR031688. CAC1F_C.
IPR027359. Channel_four-helix_dom.
IPR031649. GPHH_dom.
IPR005821. Ion_trans_dom.
IPR014873. VDCC_a1su_IQ.
IPR030157. VDCC_L_a1F.
IPR005446. VDCC_L_a1su.
IPR002077. VDCCAlpha1.
[Graphical view]
PANTHERiPTHR10037:SF184. PTHR10037:SF184. 1 hit.
PfamiPF08763. Ca_chan_IQ. 1 hit.
PF16885. CAC1F_C. 1 hit.
PF16905. GPHH. 1 hit.
PF00520. Ion_trans. 4 hits.
[Graphical view]
PRINTSiPR00167. CACHANNEL.
PR01630. LVDCCALPHA1.
SMARTiSM01062. Ca_chan_IQ. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60840-1) [UniParc]FASTAAdd to basket

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

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 rs6520408dbSNPEnsembl.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 rs122456133dbSNPEnsembl.1
Natural variantiVAR_001505519R → Q in CSNB2A. 1 PublicationCorresponds to variant rs34162630dbSNPEnsembl.1
Natural variantiVAR_071433603G → R in AIED and CSNB2A. 1 PublicationCorresponds to variant rs201654095dbSNPEnsembl.1
Natural variantiVAR_030812635V → I in CSNB2A. 1 PublicationCorresponds to variant rs141010716dbSNPEnsembl.1
Natural variantiVAR_030813674G → D in CSNB2A. 1 Publication1
Natural variantiVAR_029376746N → T.1 PublicationCorresponds to variant rs141159097dbSNPEnsembl.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 rs122456136dbSNPEnsembl.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 rs34308720dbSNPEnsembl.1
Natural variantiVAR_0318221270A → T.Corresponds to variant rs34308720dbSNPEnsembl.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 rs33910054dbSNPEnsembl.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

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

Cross-referencesi

Web resourcesi

Mutations of the CCNA1F gene

Retina International's Scientific Newsletter

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.

3D structure databases

ProteinModelPortaliO60840.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107232. 1 interactor.
IntActiO60840. 2 interactors.
STRINGi9606.ENSP00000365441.

Chemistry databases

BindingDBiO60840.
ChEMBLiCHEMBL2363032.
DrugBankiDB00568. Cinnarizine.
DB04920. Clevidipine.
DB04855. Dronedarone.
DB00393. Nimodipine.
DB00421. Spironolactone.
DB00661. Verapamil.
GuidetoPHARMACOLOGYi531.

Protein family/group databases

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

PTM databases

iPTMnetiO60840.
PhosphoSitePlusiO60840.

Polymorphism and mutation databases

BioMutaiCACNA1F.

Proteomic databases

PaxDbiO60840.
PeptideAtlasiO60840.
PRIDEiO60840.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi778.
DisGeNETi778.
GeneCardsiCACNA1F.
GeneReviewsiCACNA1F.
HGNCiHGNC:1393. CACNA1F.
MalaCardsiCACNA1F.
MIMi300071. phenotype.
300110. gene.
300476. phenotype.
300600. phenotype.
neXtProtiNX_O60840.
OpenTargetsiENSG00000102001.
Orphaneti178333. Aland Islands eye disease.
1872. Cone rod dystrophy.
215. Congenital stationary night blindness.
PharmGKBiPA26010.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000102001-MONOMER.
ReactomeiR-HSA-5576892. Phase 0 - rapid depolarisation.
R-HSA-5576893. Phase 2 - plateau phase.
R-HSA-5576894. Phase 1 - inactivation of fast Na+ channels.

Miscellaneous databases

ChiTaRSiCACNA1F. human.
GeneWikiiCav1.4.
GenomeRNAii778.
PROiO60840.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102001.
CleanExiHS_CACNA1F.
ExpressionAtlasiO60840. baseline and differential.
GenevisibleiO60840. HS.

Family and domain databases

Gene3Di1.20.120.350. 5 hits.
InterProiIPR031688. CAC1F_C.
IPR027359. Channel_four-helix_dom.
IPR031649. GPHH_dom.
IPR005821. Ion_trans_dom.
IPR014873. VDCC_a1su_IQ.
IPR030157. VDCC_L_a1F.
IPR005446. VDCC_L_a1su.
IPR002077. VDCCAlpha1.
[Graphical view]
PANTHERiPTHR10037:SF184. PTHR10037:SF184. 1 hit.
PfamiPF08763. Ca_chan_IQ. 1 hit.
PF16885. CAC1F_C. 1 hit.
PF16905. GPHH. 1 hit.
PF00520. Ion_trans. 4 hits.
[Graphical view]
PRINTSiPR00167. CACHANNEL.
PR01630. LVDCCALPHA1.
SMARTiSM01062. Ca_chan_IQ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCAC1F_HUMAN
AccessioniPrimary (citable) accession number: O60840
Secondary accession number(s): A6NI29
, F5CIQ9, O43901, O95226, Q9UHB1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: April 14, 2009
Last modified: November 30, 2016
This is version 172 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.