UniProtKB - O60840 (CAC1F_HUMAN)
Voltage-dependent L-type calcium channel subunit alpha-1F
CACNA1F
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, and by benzothiazepines. Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization.
1 PublicationVoltage-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 PublicationVoltage-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 PublicationSites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 330 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 711 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 1086 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 1383 | Calcium ion selectivity and permeabilityBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 1470 – 1481 | By similarityAdd BLAST | 12 |
GO - Molecular functioni
- high voltage-gated calcium channel activity Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- voltage-gated calcium channel activity Source: UniProtKB
GO - Biological processi
- calcium ion import Source: GO_Central
- calcium ion transport Source: GO_Central
- detection of light stimulus involved in visual perception Source: UniProtKB
- negative regulation of voltage-gated calcium channel activity Source: UniProtKB
- regulation of ion transmembrane transport Source: UniProtKB-KW
- visual perception Source: UniProtKB
Keywordsi
Molecular function | Calcium channel, Ion channel, Voltage-gated channel |
Biological process | Calcium transport, Ion transport, Sensory transduction, Transport, Vision |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | O60840 |
SignaLinki | O60840 |
Protein family/group databases
TCDBi | 1.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-1FCuratedAlternative name(s): Voltage-gated calcium channel subunit alpha Cav1.4 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1393, CACNA1F |
MIMi | 300110, gene |
neXtProti | NX_O60840 |
VEuPathDBi | HostDB:ENSG00000102001 |
Subcellular locationi
Other locations
Plasma Membrane
- voltage-gated calcium channel complex Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB
- perikaryon Source: Ensembl
- photoreceptor outer segment Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 92 | CytoplasmicSequence analysisAdd BLAST | 92 | |
Transmembranei | 93 – 111 | Helical; Name=S1 of repeat ISequence analysisAdd BLAST | 19 | |
Topological domaini | 112 – 129 | ExtracellularSequence analysisAdd BLAST | 18 | |
Transmembranei | 130 – 149 | Helical; Name=S2 of repeat ISequence analysisAdd BLAST | 20 | |
Topological domaini | 150 – 161 | CytoplasmicSequence analysisAdd BLAST | 12 | |
Transmembranei | 162 – 180 | Helical; Name=S3 of repeat ISequence analysisAdd BLAST | 19 | |
Topological domaini | 181 – 201 | ExtracellularSequence analysisAdd BLAST | 21 | |
Transmembranei | 202 – 220 | Helical; Name=S4 of repeat ISequence analysisAdd BLAST | 19 | |
Topological domaini | 221 – 239 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 240 – 259 | Helical; Name=S5 of repeat ISequence analysisAdd BLAST | 20 | |
Topological domaini | 260 – 347 | ExtracellularSequence analysisAdd BLAST | 88 | |
Transmembranei | 348 – 372 | Helical; Name=S6 of repeat ISequence analysisAdd BLAST | 25 | |
Topological domaini | 373 – 529 | CytoplasmicSequence analysisAdd BLAST | 157 | |
Transmembranei | 530 – 549 | Helical; Name=S1 of repeat IISequence analysisAdd BLAST | 20 | |
Topological domaini | 550 – 564 | ExtracellularSequence analysisAdd BLAST | 15 | |
Transmembranei | 565 – 583 | Helical; Name=S2 of repeat IISequence analysisAdd BLAST | 19 | |
Topological domaini | 584 – 591 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 592 – 610 | Helical; Name=S3 of repeat IISequence analysisAdd BLAST | 19 | |
Topological domaini | 611 – 620 | ExtracellularSequence analysis | 10 | |
Transmembranei | 621 – 639 | Helical; Name=S4 of repeat IISequence analysisAdd BLAST | 19 | |
Topological domaini | 640 – 658 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 659 – 679 | Helical; Name=S5 of repeat IISequence analysisAdd BLAST | 21 | |
Topological domaini | 680 – 733 | ExtracellularSequence analysisAdd BLAST | 54 | |
Transmembranei | 734 – 758 | Helical; Name=S6 of repeat IISequence analysisAdd BLAST | 25 | |
Topological domaini | 759 – 871 | CytoplasmicSequence analysisAdd BLAST | 113 | |
Transmembranei | 872 – 890 | Helical; Name=S1 of repeat IIISequence analysisAdd BLAST | 19 | |
Topological domaini | 891 – 906 | ExtracellularSequence analysisAdd BLAST | 16 | |
Transmembranei | 907 – 926 | Helical; Name=S2 of repeat IIISequence analysisAdd BLAST | 20 | |
Topological domaini | 927 – 938 | CytoplasmicSequence analysisAdd BLAST | 12 | |
Transmembranei | 939 – 957 | Helical; Name=S3 of repeat IIISequence analysisAdd BLAST | 19 | |
Topological domaini | 958 – 963 | ExtracellularSequence analysis | 6 | |
Transmembranei | 964 – 983 | Helical; Name=S4 of repeat IIISequence analysisAdd BLAST | 20 | |
Topological domaini | 984 – 1002 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 1003 – 1022 | Helical; Name=S5 of repeat IIISequence analysisAdd BLAST | 20 | |
Topological domaini | 1023 – 1112 | ExtracellularSequence analysisAdd BLAST | 90 | |
Transmembranei | 1113 – 1133 | Helical; Name=S6 of repeat IIISequence analysisAdd BLAST | 21 | |
Topological domaini | 1134 – 1190 | CytoplasmicSequence analysisAdd BLAST | 57 | |
Transmembranei | 1191 – 1209 | Helical; Name=S1 of repeat IVSequence analysisAdd BLAST | 19 | |
Topological domaini | 1210 – 1224 | ExtracellularSequence analysisAdd BLAST | 15 | |
Transmembranei | 1225 – 1244 | Helical; Name=S2 of repeat IVSequence analysisAdd BLAST | 20 | |
Topological domaini | 1245 – 1251 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 1252 – 1273 | Helical; Name=S3 of repeat IVSequence analysisAdd BLAST | 22 | |
Topological domaini | 1274 – 1290 | ExtracellularSequence analysisAdd BLAST | 17 | |
Transmembranei | 1291 – 1310 | Helical; Name=S4 of repeat IVSequence analysisAdd BLAST | 20 | |
Topological domaini | 1311 – 1329 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 1330 – 1349 | Helical; Name=S5 of repeat IVSequence analysisAdd BLAST | 20 | |
Topological domaini | 1350 – 1416 | ExtracellularSequence analysisAdd BLAST | 67 | |
Transmembranei | 1417 – 1441 | Helical; Name=S6 of repeat IVSequence analysisAdd BLAST | 25 | |
Topological domaini | 1442 – 1977 | CytoplasmicSequence analysisAdd BLAST | 536 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Night blindness, congenital stationary, 2A (CSNB2A)7 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030808 | 74 | C → R in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030809 | 150 | G → R in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030810 | 229 | S → P in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030811 | 261 | G → R in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_001504 | 369 | G → D in CSNB2A. 3 PublicationsCorresponds to variant dbSNP:rs122456133EnsemblClinVar. | 1 | |
Natural variantiVAR_001505 | 519 | R → Q in CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs34162630Ensembl. | 1 | |
Natural variantiVAR_071433 | 603 | G → R in AIED and CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs201654095Ensembl. | 1 | |
Natural variantiVAR_030812 | 635 | V → I in CSNB2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141010716Ensembl. | 1 | |
Natural variantiVAR_030813 | 674 | G → D in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030814 | 753 | F → C in CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs1602644716Ensembl. | 1 | |
Natural variantiVAR_030815 | 756 | I → 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:rs122456136Ensembl. | 1 | |
Natural variantiVAR_030816 | 860 | L → P in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030817 | 928 | A → D in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030818 | 1018 | G → R in CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs1249437161Ensembl. | 1 | |
Natural variantiVAR_001506 | 1060 | R → W in CSNB2A. 2 Publications | 1 | |
Natural variantiVAR_030819 | 1079 | L → P in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_001507 | 1375 | L → H in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030820 | 1499 | C → R in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030821 | 1500 | P → R in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030822 | 1508 | L → P in CSNB2A. 1 Publication | 1 |
Cone-rod dystrophy, X-linked 3 (CORDX3)1 Publication
Aaland island eye disease (AIED)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071433 | 603 | G → R in AIED and CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs201654095Ensembl. | 1 |
Keywords - Diseasei
Cone-rod dystrophy, Congenital stationary night blindness, Disease variantOrganism-specific databases
DisGeNETi | 778 |
GeneReviewsi | CACNA1F |
MalaCardsi | CACNA1F |
MIMi | 300071, phenotype 300476, phenotype 300600, phenotype |
OpenTargetsi | ENSG00000102001 |
Orphaneti | 178333, Aaland Islands eye disease 1872, Cone rod dystrophy 215, Congenital stationary night blindness |
PharmGKBi | PA26010 |
Miscellaneous databases
Pharosi | O60840, Tchem |
Chemistry databases
ChEMBLi | CHEMBL2363032 |
DrugBanki | DB01118, Amiodarone DB09229, Aranidipine DB09231, Benidipine DB13746, Bioallethrin DB11148, Butamben DB11093, Calcium citrate DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate DB09232, Cilnidipine DB00568, Cinnarizine DB04920, Clevidipine DB04855, Dronedarone DB06751, Drotaverine DB00228, Enflurane DB00153, Ergocalciferol DB13961, Fish oil DB09236, Lacidipine DB00825, Levomenthol DB00653, Magnesium sulfate DB09238, Manidipine DB01388, Mibefradil DB01110, Miconazole DB00393, Nimodipine DB00252, Phenytoin DB00243, Ranolazine DB00421, Spironolactone DB00273, Topiramate DB09089, Trimebutine |
DrugCentrali | O60840 |
GuidetoPHARMACOLOGYi | 531 |
Genetic variation databases
BioMutai | CACNA1F |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000053950 | 1 – 1977 | Voltage-dependent L-type calcium channel subunit alpha-1FAdd BLAST | 1977 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 295 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
jPOSTi | O60840 |
MassIVEi | O60840 |
PaxDbi | O60840 |
PeptideAtlasi | O60840 |
PRIDEi | O60840 |
ProteomicsDBi | 49626 [O60840-1] 49627 [O60840-2] 50727 |
PTM databases
GlyGeni | O60840, 1 site |
iPTMneti | O60840 |
PhosphoSitePlusi | O60840 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000102001, Expressed in granulocyte and 95 other tissues |
ExpressionAtlasi | O60840, baseline and differential |
Genevisiblei | O60840, HS |
Organism-specific databases
HPAi | ENSG00000102001, Tissue enriched (retina) |
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 similarityCuratedInteracts with CABP4; suppresses robust calcium-dependent inactivation of channel without enhancing the hyperpolarized voltage-dependent activation (PubMed:27226626).
1 PublicationProtein-protein interaction databases
BioGRIDi | 107232, 3 interactors |
IntActi | O60840, 3 interactors |
STRINGi | 9606.ENSP00000365441 |
Chemistry databases
BindingDBi | O60840 |
Miscellaneous databases
RNActi | O60840, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 79 – 375 | IAdd BLAST | 297 | |
Repeati | 515 – 761 | IIAdd BLAST | 247 | |
Repeati | 858 – 1140 | IIIAdd BLAST | 283 | |
Repeati | 1177 – 1444 | IVAdd BLAST | 268 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 60 | DisorderedSequence analysisAdd BLAST | 60 | |
Regioni | 395 – 412 | Binding to the beta subunitBy similarityAdd BLAST | 18 | |
Regioni | 418 – 441 | DisorderedSequence analysisAdd BLAST | 24 | |
Regioni | 455 – 488 | DisorderedSequence analysisAdd BLAST | 34 | |
Regioni | 767 – 830 | DisorderedSequence analysisAdd BLAST | 64 | |
Regioni | 1060 – 1150 | Dihydropyridine bindingBy similarityAdd BLAST | 91 | |
Regioni | 1397 – 1463 | Dihydropyridine bindingBy similarityAdd BLAST | 67 | |
Regioni | 1409 – 1452 | Phenylalkylamine bindingBy similarityAdd BLAST | 44 | |
Regioni | 1637 – 1754 | DisorderedSequence analysisAdd BLAST | 118 | |
Regioni | 1816 – 1841 | DisorderedSequence analysisAdd BLAST | 26 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 456 – 479 | Polar residuesSequence analysisAdd BLAST | 24 | |
Compositional biasi | 769 – 783 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 803 – 829 | Acidic residuesSequence analysisAdd BLAST | 27 | |
Compositional biasi | 1637 – 1655 | Acidic residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 1697 – 1722 | Polar residuesSequence analysisAdd BLAST | 26 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2301, Eukaryota |
GeneTreei | ENSGT00940000159855 |
HOGENOMi | CLU_000540_0_1_1 |
InParanoidi | O60840 |
OMAi | RVCTLNQ |
OrthoDBi | 172471at2759 |
PhylomeDBi | O60840 |
TreeFami | TF312805 |
Family and domain databases
Gene3Di | 1.20.120.350, 4 hits |
InterProi | View protein in InterPro IPR031688, CAC1F_C IPR031649, GPHH_dom IPR005821, Ion_trans_dom IPR014873, VDCC_a1su_IQ IPR005446, VDCC_L_a1su IPR002077, VDCCAlpha1 IPR027359, Volt_channel_dom_sf |
Pfami | View protein in Pfam PF08763, Ca_chan_IQ, 1 hit PF16885, CAC1F_C, 1 hit PF16905, GPHH, 1 hit PF00520, Ion_trans, 4 hits |
PRINTSi | PR00167, CACHANNEL PR01630, LVDCCALPHA1 |
SMARTi | View protein in SMART SM01062, Ca_chan_IQ, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH7C549 | H7C549_HUMAN | Voltage-dependent L-type calcium ch... | CACNA1F | 116 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1236 | E → V in AAB92359 (PubMed:9344658).Curated | 1 | |
Sequence conflicti | 1860 | A → G in AAB92359 (PubMed:9344658).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030807 | 14 | P → L. Corresponds to variant dbSNP:rs6520408EnsemblClinVar. | 1 | |
Natural variantiVAR_030808 | 74 | C → R in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030809 | 150 | G → R in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030810 | 229 | S → P in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030811 | 261 | G → R in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_001504 | 369 | G → D in CSNB2A. 3 PublicationsCorresponds to variant dbSNP:rs122456133EnsemblClinVar. | 1 | |
Natural variantiVAR_001505 | 519 | R → Q in CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs34162630Ensembl. | 1 | |
Natural variantiVAR_071433 | 603 | G → R in AIED and CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs201654095Ensembl. | 1 | |
Natural variantiVAR_030812 | 635 | V → I in CSNB2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141010716Ensembl. | 1 | |
Natural variantiVAR_030813 | 674 | G → D in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_029376 | 746 | N → T1 PublicationCorresponds to variant dbSNP:rs141159097Ensembl. | 1 | |
Natural variantiVAR_030814 | 753 | F → C in CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs1602644716Ensembl. | 1 | |
Natural variantiVAR_030815 | 756 | I → 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:rs122456136Ensembl. | 1 | |
Natural variantiVAR_030816 | 860 | L → P in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030817 | 928 | A → D in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030818 | 1018 | G → R in CSNB2A. 1 PublicationCorresponds to variant dbSNP:rs1249437161Ensembl. | 1 | |
Natural variantiVAR_001506 | 1060 | R → W in CSNB2A. 2 Publications | 1 | |
Natural variantiVAR_030819 | 1079 | L → P in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_055662 | 1259 | A → T. Corresponds to variant dbSNP:rs34308720Ensembl. | 1 | |
Natural variantiVAR_031822 | 1270 | A → T. Corresponds to variant dbSNP:rs34308720Ensembl. | 1 | |
Natural variantiVAR_001507 | 1375 | L → H in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030820 | 1499 | C → R in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030821 | 1500 | P → R in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_030822 | 1508 | L → P in CSNB2A. 1 Publication | 1 | |
Natural variantiVAR_054818 | 1930 | R → H. Corresponds to variant dbSNP:rs33910054Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045172 | 9 – 86 | DTTPE…RRSCI → GERILPSLQTLGA in isoform 3. 1 PublicationAdd BLAST | 78 | |
Alternative sequenceiVSP_036785 | 427 – 437 | Missing in isoform 2. 2 PublicationsAdd BLAST | 11 | |
Alternative sequenceiVSP_058923 | 1756 – 1775 | Missing in isoform 4 and isoform 5. 1 PublicationAdd BLAST | 20 | |
Alternative sequenceiVSP_058924 | 1836 – 1901 | Missing in isoform 4 and isoform 6. 1 PublicationAdd BLAST | 66 |
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. |
CCDSi | CCDS35253.1 [O60840-1] CCDS59166.1 [O60840-4] CCDS59167.1 [O60840-2] |
RefSeqi | NP_001243718.1, NM_001256789.2 [O60840-2] NP_001243719.1, NM_001256790.2 [O60840-4] NP_005174.2, NM_005183.3 [O60840-1] |
Genome annotation databases
Ensembli | ENST00000323022.10; ENSP00000321618.6; ENSG00000102001.13 [O60840-2] ENST00000376251.5; ENSP00000365427.1; ENSG00000102001.13 [O60840-4] ENST00000376265.2; ENSP00000365441.2; ENSG00000102001.13 |
GeneIDi | 778 |
KEGGi | hsa:778 |
MANE-Selecti | ENST00000323022.10; ENSP00000321618.6; NM_001256789.3; NP_001243718.1 [O60840-2] |
UCSCi | uc004dnb.3, human [O60840-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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. |
CCDSi | CCDS35253.1 [O60840-1] CCDS59166.1 [O60840-4] CCDS59167.1 [O60840-2] |
RefSeqi | NP_001243718.1, NM_001256789.2 [O60840-2] NP_001243719.1, NM_001256790.2 [O60840-4] NP_005174.2, NM_005183.3 [O60840-1] |
3D structure databases
AlphaFoldDBi | O60840 |
SMRi | O60840 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107232, 3 interactors |
IntActi | O60840, 3 interactors |
STRINGi | 9606.ENSP00000365441 |
Chemistry databases
BindingDBi | O60840 |
ChEMBLi | CHEMBL2363032 |
DrugBanki | DB01118, Amiodarone DB09229, Aranidipine DB09231, Benidipine DB13746, Bioallethrin DB11148, Butamben DB11093, Calcium citrate DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate DB09232, Cilnidipine DB00568, Cinnarizine DB04920, Clevidipine DB04855, Dronedarone DB06751, Drotaverine DB00228, Enflurane DB00153, Ergocalciferol DB13961, Fish oil DB09236, Lacidipine DB00825, Levomenthol DB00653, Magnesium sulfate DB09238, Manidipine DB01388, Mibefradil DB01110, Miconazole DB00393, Nimodipine DB00252, Phenytoin DB00243, Ranolazine DB00421, Spironolactone DB00273, Topiramate DB09089, Trimebutine |
DrugCentrali | O60840 |
GuidetoPHARMACOLOGYi | 531 |
Protein family/group databases
TCDBi | 1.A.1.11.11, the voltage-gated ion channel (vic) superfamily |
PTM databases
GlyGeni | O60840, 1 site |
iPTMneti | O60840 |
PhosphoSitePlusi | O60840 |
Genetic variation databases
BioMutai | CACNA1F |
Proteomic databases
jPOSTi | O60840 |
MassIVEi | O60840 |
PaxDbi | O60840 |
PeptideAtlasi | O60840 |
PRIDEi | O60840 |
ProteomicsDBi | 49626 [O60840-1] 49627 [O60840-2] 50727 |
Protocols and materials databases
Antibodypediai | 26145, 104 antibodies from 19 providers |
DNASUi | 778 |
Genome annotation databases
Ensembli | ENST00000323022.10; ENSP00000321618.6; ENSG00000102001.13 [O60840-2] ENST00000376251.5; ENSP00000365427.1; ENSG00000102001.13 [O60840-4] ENST00000376265.2; ENSP00000365441.2; ENSG00000102001.13 |
GeneIDi | 778 |
KEGGi | hsa:778 |
MANE-Selecti | ENST00000323022.10; ENSP00000321618.6; NM_001256789.3; NP_001243718.1 [O60840-2] |
UCSCi | uc004dnb.3, human [O60840-1] |
Organism-specific databases
CTDi | 778 |
DisGeNETi | 778 |
GeneCardsi | CACNA1F |
GeneReviewsi | CACNA1F |
HGNCi | HGNC:1393, CACNA1F |
HPAi | ENSG00000102001, Tissue enriched (retina) |
MalaCardsi | CACNA1F |
MIMi | 300071, phenotype 300110, gene 300476, phenotype 300600, phenotype |
neXtProti | NX_O60840 |
OpenTargetsi | ENSG00000102001 |
Orphaneti | 178333, Aaland Islands eye disease 1872, Cone rod dystrophy 215, Congenital stationary night blindness |
PharmGKBi | PA26010 |
VEuPathDBi | HostDB:ENSG00000102001 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2301, Eukaryota |
GeneTreei | ENSGT00940000159855 |
HOGENOMi | CLU_000540_0_1_1 |
InParanoidi | O60840 |
OMAi | RVCTLNQ |
OrthoDBi | 172471at2759 |
PhylomeDBi | O60840 |
TreeFami | TF312805 |
Enzyme and pathway databases
PathwayCommonsi | O60840 |
SignaLinki | O60840 |
Miscellaneous databases
BioGRID-ORCSi | 778, 5 hits in 694 CRISPR screens |
ChiTaRSi | CACNA1F, human |
GeneWikii | Cav1.4 |
GenomeRNAii | 778 |
Pharosi | O60840, Tchem |
PROi | PR:O60840 |
RNActi | O60840, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000102001, Expressed in granulocyte and 95 other tissues |
ExpressionAtlasi | O60840, baseline and differential |
Genevisiblei | O60840, HS |
Family and domain databases
Gene3Di | 1.20.120.350, 4 hits |
InterProi | View protein in InterPro IPR031688, CAC1F_C IPR031649, GPHH_dom IPR005821, Ion_trans_dom IPR014873, VDCC_a1su_IQ IPR005446, VDCC_L_a1su IPR002077, VDCCAlpha1 IPR027359, Volt_channel_dom_sf |
Pfami | View protein in Pfam PF08763, Ca_chan_IQ, 1 hit PF16885, CAC1F_C, 1 hit PF16905, GPHH, 1 hit PF00520, Ion_trans, 4 hits |
PRINTSi | PR00167, CACHANNEL PR01630, LVDCCALPHA1 |
SMARTi | View protein in SMART SM01062, Ca_chan_IQ, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CAC1F_HUMAN | |
Accessioni | O60840Primary (citable) accession number: O60840 Secondary accession number(s): A6NI29 Q9UHB1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | April 14, 2009 | |
Last modified: | May 25, 2022 | |
This is version 210 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families