UniProtKB - Q15878 (CAC1E_HUMAN)
Voltage-dependent R-type calcium channel subunit alpha-1E
CACNA1E
Functioni
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 309 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 657 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 1372 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 1663 | Calcium ion selectivity and permeabilityBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 426 – 437 | PROSITE-ProRule annotationAdd BLAST | 12 | |
Calcium bindingi | 1752 – 1763 | PROSITE-ProRule annotationAdd BLAST | 12 |
GO - Molecular functioni
- calcium ion binding Source: InterPro
- voltage-gated calcium channel activity Source: MGI
- voltage-gated cation channel activity Source: UniProtKB
GO - Biological processi
- calcium ion import Source: GO_Central
- calcium ion transport Source: GO_Central
- chemical synaptic transmission Source: GO_Central
- membrane depolarization Source: Reactome
- regulation of insulin secretion Source: Reactome
- regulation of ion transmembrane transport Source: UniProtKB-KW
Keywordsi
Molecular function | Calcium channel, Ion channel, Voltage-gated channel |
Biological process | Calcium transport, Ion transport, Transport |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q15878 |
Reactomei | R-HSA-112308, Presynaptic depolarization and calcium channel opening R-HSA-422356, Regulation of insulin secretion |
Names & Taxonomyi
Protein namesi | Recommended name: Voltage-dependent R-type calcium channel subunit alpha-1EAlternative name(s): Brain calcium channel II Short name: BII Calcium channel, L type, alpha-1 polypeptide, isoform 6 Voltage-gated calcium channel subunit alpha Cav2.3 |
Gene namesi | Name:CACNA1E Synonyms:CACH6, CACNL1A6 |
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:1392, CACNA1E |
MIMi | 601013, gene |
neXtProti | NX_Q15878 |
VEuPathDBi | HostDB:ENSG00000198216.10 |
Subcellular locationi
Other locations
Plasma Membrane
- plasma membrane Source: Reactome
- voltage-gated calcium channel complex Source: ProtInc
Other locations
- synapse Source: GOC
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 89 | CytoplasmicSequence analysisAdd BLAST | 89 | |
Transmembranei | 90 – 108 | Helical; Name=S1 of repeat IAdd BLAST | 19 | |
Topological domaini | 109 – 127 | ExtracellularSequence analysisAdd BLAST | 19 | |
Transmembranei | 128 – 146 | Helical; Name=S2 of repeat IAdd BLAST | 19 | |
Topological domaini | 147 – 158 | CytoplasmicSequence analysisAdd BLAST | 12 | |
Transmembranei | 159 – 173 | Helical; Name=S3 of repeat IAdd BLAST | 15 | |
Topological domaini | 174 – 185 | ExtracellularSequence analysisAdd BLAST | 12 | |
Transmembranei | 186 – 205 | Helical; Name=S4 of repeat IAdd BLAST | 20 | |
Topological domaini | 206 – 223 | CytoplasmicSequence analysisAdd BLAST | 18 | |
Transmembranei | 224 – 244 | Helical; Name=S5 of repeat IAdd BLAST | 21 | |
Topological domaini | 245 – 326 | ExtracellularSequence analysisAdd BLAST | 82 | |
Transmembranei | 327 – 350 | Helical; Name=S6 of repeat IAdd BLAST | 24 | |
Topological domaini | 351 – 476 | CytoplasmicSequence analysisAdd BLAST | 126 | |
Transmembranei | 477 – 496 | Helical; Name=S1 of repeat IIAdd BLAST | 20 | |
Topological domaini | 497 – 509 | ExtracellularSequence analysisAdd BLAST | 13 | |
Transmembranei | 510 – 529 | Helical; Name=S2 of repeat IIAdd BLAST | 20 | |
Topological domaini | 530 – 538 | CytoplasmicSequence analysis | 9 | |
Transmembranei | 539 – 557 | Helical; Name=S3 of repeat IIAdd BLAST | 19 | |
Topological domaini | 558 – 567 | ExtracellularSequence analysis | 10 | |
Transmembranei | 568 – 586 | Helical; Name=S4 of repeat IIAdd BLAST | 19 | |
Topological domaini | 587 – 605 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 606 – 625 | Helical; Name=S5 of repeat IIAdd BLAST | 20 | |
Topological domaini | 626 – 678 | ExtracellularSequence analysisAdd BLAST | 53 | |
Transmembranei | 679 – 703 | Helical; Name=S6 of repeat IIAdd BLAST | 25 | |
Topological domaini | 704 – 1148 | CytoplasmicSequence analysisAdd BLAST | 445 | |
Transmembranei | 1149 – 1165 | Helical; Name=S1 of repeat IIIAdd BLAST | 17 | |
Topological domaini | 1166 – 1189 | ExtracellularSequence analysisAdd BLAST | 24 | |
Transmembranei | 1190 – 1209 | Helical; Name=S2 of repeat IIIAdd BLAST | 20 | |
Topological domaini | 1210 – 1217 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 1218 – 1240 | Helical; Name=S3 of repeat IIIAdd BLAST | 23 | |
Topological domaini | 1241 – 1254 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 1255 – 1272 | Helical; Name=S4 of repeat IIIAdd BLAST | 18 | |
Topological domaini | 1273 – 1291 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 1292 – 1311 | Helical; Name=S5 of repeat IIIAdd BLAST | 20 | |
Topological domaini | 1312 – 1398 | ExtracellularSequence analysisAdd BLAST | 87 | |
Transmembranei | 1399 – 1422 | Helical; Name=S6 of repeat IIIAdd BLAST | 24 | |
Topological domaini | 1423 – 1479 | CytoplasmicSequence analysisAdd BLAST | 57 | |
Transmembranei | 1480 – 1498 | Helical; Name=S1 of repeat IVAdd BLAST | 19 | |
Topological domaini | 1499 – 1513 | ExtracellularSequence analysisAdd BLAST | 15 | |
Transmembranei | 1514 – 1533 | Helical; Name=S2 of repeat IVAdd BLAST | 20 | |
Topological domaini | 1534 – 1541 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 1542 – 1560 | Helical; Name=S3 of repeat IVAdd BLAST | 19 | |
Topological domaini | 1561 – 1571 | ExtracellularSequence analysisAdd BLAST | 11 | |
Transmembranei | 1572 – 1590 | Helical; Name=S4 of repeat IVAdd BLAST | 19 | |
Topological domaini | 1591 – 1609 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 1610 – 1629 | Helical; Name=S5 of repeat IVAdd BLAST | 20 | |
Topological domaini | 1630 – 1698 | ExtracellularSequence analysisAdd BLAST | 69 | |
Transmembranei | 1699 – 1724 | Helical; Name=S6 of repeat IVAdd BLAST | 26 | |
Topological domaini | 1725 – 2313 | CytoplasmicSequence analysisAdd BLAST | 589 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Epileptic encephalopathy, early infantile, 69 (EIEE69)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081838 | 228 | L → P in EIEE69. 1 PublicationCorresponds to variant dbSNP:rs1553286282EnsemblClinVar. | 1 | |
Natural variantiVAR_081839 | 348 | G → R in EIEE69. 1 Publication | 1 | |
Natural variantiVAR_081840 | 352 | G → R in EIEE69. 1 PublicationCorresponds to variant dbSNP:rs886039323EnsemblClinVar. | 1 | |
Natural variantiVAR_081841 | 603 | I → L in EIEE69; gain-of-function variant affecting channel activity; results in hyperpolarizing shift in half activation voltage. 1 PublicationCorresponds to variant dbSNP:rs778291283EnsemblClinVar. | 1 | |
Natural variantiVAR_081842 | 690 | G → D in EIEE69. 1 PublicationCorresponds to variant dbSNP:rs1361083258EnsemblClinVar. | 1 | |
Natural variantiVAR_081843 | 698 | F → S in EIEE69; gain-of-function variant affecting channel activity; shifts the voltage dependence of activation toward more negative potentials and slows the fast inactivation time course. 1 PublicationCorresponds to variant dbSNP:rs869312920EnsemblClinVar. | 1 | |
Natural variantiVAR_081844 | 700 | A → T in EIEE69. 1 Publication | 1 | |
Natural variantiVAR_081845 | 701 | I → V in EIEE69; gain-of-function variant affecting channel activity; shifts the voltage dependence of activation toward more negative potentials and slows the fast inactivation time course. 1 Publication | 1 | |
Natural variantiVAR_081846 | 702 | A → P in EIEE69. 1 PublicationCorresponds to variant dbSNP:rs12131800EnsemblClinVar. | 1 | |
Natural variantiVAR_081847 | 702 | A → T in EIEE69; gain-of-function variant affecting channel activity; shifts the voltage dependence of activation toward more negative potentials and slows the fast inactivation time course. 1 PublicationCorresponds to variant dbSNP:rs12131800EnsemblClinVar. | 1 | |
Natural variantiVAR_081848 | 829 – 2313 | Missing in EIEE69; unknown pathological significance. 1 PublicationAdd BLAST | 1485 | |
Natural variantiVAR_081849 | 1389 – 2313 | Missing in EIEE69; unknown pathological significance. 1 PublicationAdd BLAST | 925 | |
Natural variantiVAR_081850 | 1422 | I → F in EIEE69. 1 Publication | 1 | |
Natural variantiVAR_081851 | 1425 | T → N in EIEE69. 1 Publication | 1 | |
Natural variantiVAR_081852 | 1430 | G → R in EIEE69. 1 PublicationCorresponds to variant dbSNP:rs1553345844EnsemblClinVar. | 1 | |
Natural variantiVAR_081853 | 1720 | A → G in EIEE69. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, EpilepsyOrganism-specific databases
DisGeNETi | 777 |
MalaCardsi | CACNA1E |
MIMi | 618285, phenotype |
OpenTargetsi | ENSG00000198216 |
PharmGKBi | PA26009 |
Miscellaneous databases
Pharosi | Q15878, Tchem |
Chemistry databases
ChEMBLi | CHEMBL1687682 |
DrugBanki | DB13746, Bioallethrin DB11148, Butamben DB11093, Calcium citrate DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate DB00228, Enflurane DB00153, Ergocalciferol DB00555, Lamotrigine DB00421, Spironolactone DB00273, Topiramate |
GuidetoPHARMACOLOGYi | 534 |
Genetic variation databases
BioMutai | CACNA1E |
DMDMi | 209572758 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000053938 | 1 – 2313 | Voltage-dependent R-type calcium channel subunit alpha-1EAdd BLAST | 2313 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 14 | PhosphoserineBy similarity | 1 | |
Modified residuei | 19 | PhosphoserineBy similarity | 1 | |
Glycosylationi | 254 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 427 | PhosphoserineBy similarity | 1 | |
Modified residuei | 440 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 736 | PhosphoserineBy similarity | 1 | |
Modified residuei | 745 | PhosphoserineBy similarity | 1 | |
Modified residuei | 793 | PhosphoserineBy similarity | 1 | |
Modified residuei | 815 | PhosphoserineBy similarity | 1 | |
Modified residuei | 855 | PhosphoserineBy similarity | 1 | |
Modified residuei | 947 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1097 | PhosphoserineBy similarity | 1 | |
Glycosylationi | 1566 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1571 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 2094 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2113 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q15878 |
jPOSTi | Q15878 |
MassIVEi | Q15878 |
MaxQBi | Q15878 |
PaxDbi | Q15878 |
PeptideAtlasi | Q15878 |
PRIDEi | Q15878 |
ProteomicsDBi | 60800 [Q15878-1] 60801 [Q15878-2] 60802 [Q15878-3] |
PTM databases
GlyGeni | Q15878, 3 sites |
iPTMneti | Q15878 |
PhosphoSitePlusi | Q15878 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000198216, Expressed in caudate nucleus and 88 other tissues |
ExpressionAtlasi | Q15878, baseline and differential |
Genevisiblei | Q15878, HS |
Organism-specific databases
HPAi | ENSG00000198216, Tissue enriched (brain) |
Interactioni
Subunit structurei
Interacts with EFHC1. 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.
1 PublicationProtein-protein interaction databases
BioGRIDi | 107231, 3 interactors |
IntActi | Q15878, 1 interactor |
STRINGi | 9606.ENSP00000356545 |
Chemistry databases
BindingDBi | Q15878 |
Miscellaneous databases
RNActi | Q15878, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q15878 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q15878 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 76 – 354 | IAdd BLAST | 279 | |
Repeati | 462 – 706 | IIAdd BLAST | 245 | |
Repeati | 1140 – 1426 | IIIAdd BLAST | 287 | |
Repeati | 1463 – 1726 | IVAdd BLAST | 264 | |
Domaini | 1739 – 1774 | EF-handPROSITE-ProRule annotationAdd BLAST | 36 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 374 – 391 | Binding to the beta subunitBy similarityAdd BLAST | 18 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 716 – 721 | Poly-Glu | 6 | |
Compositional biasi | 748 – 753 | Poly-Arg | 6 | |
Compositional biasi | 767 – 772 | Poly-Arg | 6 | |
Compositional biasi | 1228 – 1231 | Poly-Val | 4 | |
Compositional biasi | 2284 – 2288 | Poly-Arg | 5 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2301, Eukaryota |
GeneTreei | ENSGT00940000155601 |
HOGENOMi | CLU_000540_1_0_1 |
InParanoidi | Q15878 |
OMAi | GQFQEHQ |
OrthoDBi | 172471at2759 |
PhylomeDBi | Q15878 |
TreeFami | TF312805 |
Family and domain databases
Gene3Di | 1.20.120.350, 4 hits |
InterProi | View protein in InterPro IPR002048, EF_hand_dom IPR031649, GPHH_dom IPR005821, Ion_trans_dom IPR014873, VDCC_a1su_IQ IPR005449, VDCC_R_a1su IPR002077, VDCCAlpha1 IPR027359, Volt_channel_dom_sf |
PANTHERi | PTHR45628:SF5, PTHR45628:SF5, 1 hit |
Pfami | View protein in Pfam PF08763, Ca_chan_IQ, 1 hit PF16905, GPHH, 1 hit PF00520, Ion_trans, 4 hits |
PRINTSi | PR00167, CACHANNEL PR01633, RVDCCALPHA1 |
SMARTi | View protein in SMART SM01062, Ca_chan_IQ, 1 hit |
PROSITEi | View protein in PROSITE PS50222, EF_HAND_2, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 4 potential isoforms that are 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
MARFGEAVVA RPGSGDGDSD QSRNRQGTPV PASGQAAAYK QTKAQRARTM
60 70 80 90 100
ALYNPIPVRQ NCFTVNRSLF IFGEDNIVRK YAKKLIDWPP FEYMILATII
110 120 130 140 150
ANCIVLALEQ HLPEDDKTPM SRRLEKTEPY FIGIFCFEAG IKIVALGFIF
160 170 180 190 200
HKGSYLRNGW NVMDFIVVLS GILATAGTHF NTHVDLRTLR AVRVLRPLKL
210 220 230 240 250
VSGIPSLQIV LKSIMKAMVP LLQIGLLLFF AILMFAIIGL EFYSGKLHRA
260 270 280 290 300
CFMNNSGILE GFDPPHPCGV QGCPAGYECK DWIGPNDGIT QFDNILFAVL
310 320 330 340 350
TVFQCITMEG WTTVLYNTND ALGATWNWLY FIPLIIIGSF FVLNLVLGVL
360 370 380 390 400
SGEFAKERER VENRRAFMKL RRQQQIEREL NGYRAWIDKA EEVMLAEENK
410 420 430 440 450
NAGTSALEVL RRATIKRSRT EAMTRDSSDE HCVDISSVGT PLARASIKSA
460 470 480 490 500
KVDGVSYFRH KERLLRISIR HMVKSQVFYW IVLSLVALNT ACVAIVHHNQ
510 520 530 540 550
PQWLTHLLYY AEFLFLGLFL LEMSLKMYGM GPRLYFHSSF NCFDFGVTVG
560 570 580 590 600
SIFEVVWAIF RPGTSFGISV LRALRLLRIF KITKYWASLR NLVVSLMSSM
610 620 630 640 650
KSIISLLFLL FLFIVVFALL GMQLFGGRFN FNDGTPSANF DTFPAAIMTV
660 670 680 690 700
FQILTGEDWN EVMYNGIRSQ GGVSSGMWSA IYFIVLTLFG NYTLLNVFLA
710 720 730 740 750
IAVDNLANAQ ELTKDEQEEE EAFNQKHALQ KAKEVSPMSA PNMPSIERDR
760 770 780 790 800
RRRHHMSMWE PRSSHLRERR RRHHMSVWEQ RTSQLRKHMQ MSSQEALNRE
810 820 830 840 850
EAPTMNPLNP LNPLSSLNPL NAHPSLYRRP RAIEGLALGL ALEKFEEERI
860 870 880 890 900
SRGGSLKGDG GDRSSALDNQ RTPLSLGQRE PPWLARPCHG NCDPTQQEAG
910 920 930 940 950
GGEAVVTFED RARHRQSQRR SRHRRVRTEG KESSSASRSR SASQERSLDE
960 970 980 990 1000
AMPTEGEKDH ELRGNHGAKE PTIQEERAQD LRRTNSLMVS RGSGLAGGLD
1010 1020 1030 1040 1050
EADTPLVLPH PELEVGKHVV LTEQEPEGSS EQALLGNVQL DMGRVISQSE
1060 1070 1080 1090 1100
PDLSCITANT DKATTESTSV TVAIPDVDPL VDSTVVHISN KTDGEASPLK
1110 1120 1130 1140 1150
EAEIREDEEE VEKKKQKKEK RETGKAMVPH SSMFIFSTTN PIRRACHYIV
1160 1170 1180 1190 1200
NLRYFEMCIL LVIAASSIAL AAEDPVLTNS ERNKVLRYFD YVFTGVFTFE
1210 1220 1230 1240 1250
MVIKMIDQGL ILQDGSYFRD LWNILDFVVV VGALVAFALA NALGTNKGRD
1260 1270 1280 1290 1300
IKTIKSLRVL RVLRPLKTIK RLPKLKAVFD CVVTSLKNVF NILIVYKLFM
1310 1320 1330 1340 1350
FIFAVIAVQL FKGKFFYCTD SSKDTEKECI GNYVDHEKNK MEVKGREWKR
1360 1370 1380 1390 1400
HEFHYDNIIW ALLTLFTVST GEGWPQVLQH SVDVTEEDRG PSRSNRMEMS
1410 1420 1430 1440 1450
IFYVVYFVVF PFFFVNIFVA LIIITFQEQG DKMMEECSLE KNERACIDFA
1460 1470 1480 1490 1500
ISAKPLTRYM PQNRHTFQYR VWHFVVSPSF EYTIMAMIAL NTVVLMMKYY
1510 1520 1530 1540 1550
SAPCTYELAL KYLNIAFTMV FSLECVLKVI AFGFLNYFRD TWNIFDFITV
1560 1570 1580 1590 1600
IGSITEIILT DSKLVNTSGF NMSFLKLFRA ARLIKLLRQG YTIRILLWTF
1610 1620 1630 1640 1650
VQSFKALPYV CLLIAMLFFI YAIIGMQVFG NIKLDEESHI NRHNNFRSFF
1660 1670 1680 1690 1700
GSLMLLFRSA TGEAWQEIML SCLGEKGCEP DTTAPSGQNE NERCGTDLAY
1710 1720 1730 1740 1750
VYFVSFIFFC SFLMLNLFVA VIMDNFEYLT RDSSILGPHH LDEFVRVWAE
1760 1770 1780 1790 1800
YDRAACGRIH YTEMYEMLTL MSPPLGLGKR CPSKVAYKRL VLMNMPVAED
1810 1820 1830 1840 1850
MTVHFTSTLM ALIRTALDIK IAKGGADRQQ LDSELQKETL AIWPHLSQKM
1860 1870 1880 1890 1900
LDLLVPMPKA SDLTVGKIYA AMMIMDYYKQ SKVKKQRQQL EEQKNAPMFQ
1910 1920 1930 1940 1950
RMEPSSLPQE IIANAKALPY LQQDPVSGLS GRSGYPSMSP LSPQDIFQLA
1960 1970 1980 1990 2000
CMDPADDGQF QERQSLEPEV SELKSVQPSN HGIYLPSDTQ EHAGSGRASS
2010 2020 2030 2040 2050
MPRLTVDPQV VTDPSSMRRS FSTIRDKRSN SSWLEEFSME RSSENTYKSR
2060 2070 2080 2090 2100
RRSYHSSLRL SAHRLNSDSG HKSDTHRSGG RERGRSKERK HLLSPDVSRC
2110 2120 2130 2140 2150
NSEERGTQAD WESPERRQSR SPSEGRSQTP NRQGTGSLSE SSIPSVSDTS
2160 2170 2180 2190 2200
TPRRSRRQLP PVPPKPRPLL SYSSLIRHAG SISPPADGSE EGSPLTSQAL
2210 2220 2230 2240 2250
ESNNACLTES SNSPHPQQSQ HASPQRYISE PYLALHEDSH ASDCGEEETL
2260 2270 2280 2290 2300
TFEAAVATSL GRSNTIGSAP PLRHSWQMPN GHYRRRRRGG PGPGMMCGAV
2310
NNLLSDTEED DKC
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8W9Z1 | F8W9Z1_HUMAN | Voltage-dependent R-type calcium ch... | CACNA1E | 2,294 | Annotation score: | ||
J3KP11 | J3KP11_HUMAN | Voltage-dependent R-type calcium ch... | CACNA1E | 2,312 | Annotation score: | ||
E9PIE8 | E9PIE8_HUMAN | Voltage-dependent R-type calcium ch... | CACNA1E | 583 | Annotation score: | ||
A0A2R8Y7W1 | A0A2R8Y7W1_HUMAN | Voltage-dependent R-type calcium ch... | CACNA1E | 110 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 648 | M → I in AAA72125 (PubMed:7536609).Curated | 1 | |
Sequence conflicti | 836 – 838 | LAL → WP in AAA72125 (PubMed:7536609).Curated | 3 | |
Sequence conflicti | 2077 | R → P in AAA59204 (PubMed:8071363).Curated | 1 | |
Sequence conflicti | 2077 | R → P in AAA59205 (PubMed:8071363).Curated | 1 | |
Sequence conflicti | 2084 | G → R in AAA59204 (PubMed:8071363).Curated | 1 | |
Sequence conflicti | 2084 | G → R in AAA59205 (PubMed:8071363).Curated | 1 | |
Sequence conflicti | 2206 | C → W in AAA59204 (PubMed:8071363).Curated | 1 | |
Sequence conflicti | 2206 | C → W in AAA59205 (PubMed:8071363).Curated | 1 | |
Sequence conflicti | 2219 | S → R in AAA59204 (PubMed:8071363).Curated | 1 | |
Sequence conflicti | 2219 | S → R in AAA59205 (PubMed:8071363).Curated | 1 | |
Sequence conflicti | 2245 | G → V in AAA59204 (PubMed:8071363).Curated | 1 | |
Sequence conflicti | 2245 | G → V in AAA59205 (PubMed:8071363).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081838 | 228 | L → P in EIEE69. 1 PublicationCorresponds to variant dbSNP:rs1553286282EnsemblClinVar. | 1 | |
Natural variantiVAR_081839 | 348 | G → R in EIEE69. 1 Publication | 1 | |
Natural variantiVAR_081840 | 352 | G → R in EIEE69. 1 PublicationCorresponds to variant dbSNP:rs886039323EnsemblClinVar. | 1 | |
Natural variantiVAR_081841 | 603 | I → L in EIEE69; gain-of-function variant affecting channel activity; results in hyperpolarizing shift in half activation voltage. 1 PublicationCorresponds to variant dbSNP:rs778291283EnsemblClinVar. | 1 | |
Natural variantiVAR_081842 | 690 | G → D in EIEE69. 1 PublicationCorresponds to variant dbSNP:rs1361083258EnsemblClinVar. | 1 | |
Natural variantiVAR_081843 | 698 | F → S in EIEE69; gain-of-function variant affecting channel activity; shifts the voltage dependence of activation toward more negative potentials and slows the fast inactivation time course. 1 PublicationCorresponds to variant dbSNP:rs869312920EnsemblClinVar. | 1 | |
Natural variantiVAR_081844 | 700 | A → T in EIEE69. 1 Publication | 1 | |
Natural variantiVAR_081845 | 701 | I → V in EIEE69; gain-of-function variant affecting channel activity; shifts the voltage dependence of activation toward more negative potentials and slows the fast inactivation time course. 1 Publication | 1 | |
Natural variantiVAR_081846 | 702 | A → P in EIEE69. 1 PublicationCorresponds to variant dbSNP:rs12131800EnsemblClinVar. | 1 | |
Natural variantiVAR_081847 | 702 | A → T in EIEE69; gain-of-function variant affecting channel activity; shifts the voltage dependence of activation toward more negative potentials and slows the fast inactivation time course. 1 PublicationCorresponds to variant dbSNP:rs12131800EnsemblClinVar. | 1 | |
Natural variantiVAR_081848 | 829 – 2313 | Missing in EIEE69; unknown pathological significance. 1 PublicationAdd BLAST | 1485 | |
Natural variantiVAR_031912 | 859 | D → E. Corresponds to variant dbSNP:rs35737760Ensembl. | 1 | |
Natural variantiVAR_081849 | 1389 – 2313 | Missing in EIEE69; unknown pathological significance. 1 PublicationAdd BLAST | 925 | |
Natural variantiVAR_081850 | 1422 | I → F in EIEE69. 1 Publication | 1 | |
Natural variantiVAR_081851 | 1425 | T → N in EIEE69. 1 Publication | 1 | |
Natural variantiVAR_081852 | 1430 | G → R in EIEE69. 1 PublicationCorresponds to variant dbSNP:rs1553345844EnsemblClinVar. | 1 | |
Natural variantiVAR_081853 | 1720 | A → G in EIEE69. 1 Publication | 1 | |
Natural variantiVAR_046996 | 1955 | A → T1 PublicationCorresponds to variant dbSNP:rs704326Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000937 | 748 – 766 | Missing in isoform 2. 1 PublicationAdd BLAST | 19 | |
Alternative sequenceiVSP_024817 | 1967 – 2009 | Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST | 43 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L27745 mRNA Translation: AAA72125.1 L29384 mRNA Translation: AAA59204.1 L29385 mRNA Translation: AAA59205.1 AL161734 Genomic DNA No translation available. AL359270 Genomic DNA No translation available. AL160059 Genomic DNA No translation available. AL590998 Genomic DNA No translation available. |
CCDSi | CCDS53443.1 [Q15878-3] CCDS55664.1 [Q15878-1] CCDS55665.1 [Q15878-2] |
PIRi | A54972 B54972 |
RefSeqi | NP_000712.2, NM_000721.3 [Q15878-3] NP_001192222.1, NM_001205293.1 [Q15878-1] NP_001192223.1, NM_001205294.1 [Q15878-2] |
Genome annotation databases
Ensembli | ENST00000358338; ENSP00000351101; ENSG00000198216 [Q15878-2] ENST00000367567; ENSP00000356539; ENSG00000198216 [Q15878-3] ENST00000367570; ENSP00000356542; ENSG00000198216 [Q15878-3] ENST00000367573; ENSP00000356545; ENSG00000198216 [Q15878-1] ENST00000621551; ENSP00000483914; ENSG00000198216 [Q15878-1] ENST00000621791; ENSP00000481619; ENSG00000198216 [Q15878-2] |
GeneIDi | 777 |
KEGGi | hsa:777 |
UCSCi | uc001gow.5, human [Q15878-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L27745 mRNA Translation: AAA72125.1 L29384 mRNA Translation: AAA59204.1 L29385 mRNA Translation: AAA59205.1 AL161734 Genomic DNA No translation available. AL359270 Genomic DNA No translation available. AL160059 Genomic DNA No translation available. AL590998 Genomic DNA No translation available. |
CCDSi | CCDS53443.1 [Q15878-3] CCDS55664.1 [Q15878-1] CCDS55665.1 [Q15878-2] |
PIRi | A54972 B54972 |
RefSeqi | NP_000712.2, NM_000721.3 [Q15878-3] NP_001192222.1, NM_001205293.1 [Q15878-1] NP_001192223.1, NM_001205294.1 [Q15878-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3BXL | X-ray | 2.30 | B | 1867-1887 | [»] | |
SMRi | Q15878 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107231, 3 interactors |
IntActi | Q15878, 1 interactor |
STRINGi | 9606.ENSP00000356545 |
Chemistry databases
BindingDBi | Q15878 |
ChEMBLi | CHEMBL1687682 |
DrugBanki | DB13746, Bioallethrin DB11148, Butamben DB11093, Calcium citrate DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate DB00228, Enflurane DB00153, Ergocalciferol DB00555, Lamotrigine DB00421, Spironolactone DB00273, Topiramate |
GuidetoPHARMACOLOGYi | 534 |
PTM databases
GlyGeni | Q15878, 3 sites |
iPTMneti | Q15878 |
PhosphoSitePlusi | Q15878 |
Genetic variation databases
BioMutai | CACNA1E |
DMDMi | 209572758 |
Proteomic databases
EPDi | Q15878 |
jPOSTi | Q15878 |
MassIVEi | Q15878 |
MaxQBi | Q15878 |
PaxDbi | Q15878 |
PeptideAtlasi | Q15878 |
PRIDEi | Q15878 |
ProteomicsDBi | 60800 [Q15878-1] 60801 [Q15878-2] 60802 [Q15878-3] |
Protocols and materials databases
Antibodypediai | 34433, 116 antibodies |
Genome annotation databases
Ensembli | ENST00000358338; ENSP00000351101; ENSG00000198216 [Q15878-2] ENST00000367567; ENSP00000356539; ENSG00000198216 [Q15878-3] ENST00000367570; ENSP00000356542; ENSG00000198216 [Q15878-3] ENST00000367573; ENSP00000356545; ENSG00000198216 [Q15878-1] ENST00000621551; ENSP00000483914; ENSG00000198216 [Q15878-1] ENST00000621791; ENSP00000481619; ENSG00000198216 [Q15878-2] |
GeneIDi | 777 |
KEGGi | hsa:777 |
UCSCi | uc001gow.5, human [Q15878-1] |
Organism-specific databases
CTDi | 777 |
DisGeNETi | 777 |
GeneCardsi | CACNA1E |
HGNCi | HGNC:1392, CACNA1E |
HPAi | ENSG00000198216, Tissue enriched (brain) |
MalaCardsi | CACNA1E |
MIMi | 601013, gene 618285, phenotype |
neXtProti | NX_Q15878 |
OpenTargetsi | ENSG00000198216 |
PharmGKBi | PA26009 |
VEuPathDBi | HostDB:ENSG00000198216.10 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2301, Eukaryota |
GeneTreei | ENSGT00940000155601 |
HOGENOMi | CLU_000540_1_0_1 |
InParanoidi | Q15878 |
OMAi | GQFQEHQ |
OrthoDBi | 172471at2759 |
PhylomeDBi | Q15878 |
TreeFami | TF312805 |
Enzyme and pathway databases
PathwayCommonsi | Q15878 |
Reactomei | R-HSA-112308, Presynaptic depolarization and calcium channel opening R-HSA-422356, Regulation of insulin secretion |
Miscellaneous databases
BioGRID-ORCSi | 777, 4 hits in 864 CRISPR screens |
ChiTaRSi | CACNA1E, human |
EvolutionaryTracei | Q15878 |
GeneWikii | R-type_calcium_channel |
GenomeRNAii | 777 |
Pharosi | Q15878, Tchem |
PROi | PR:Q15878 |
RNActi | Q15878, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000198216, Expressed in caudate nucleus and 88 other tissues |
ExpressionAtlasi | Q15878, baseline and differential |
Genevisiblei | Q15878, HS |
Family and domain databases
Gene3Di | 1.20.120.350, 4 hits |
InterProi | View protein in InterPro IPR002048, EF_hand_dom IPR031649, GPHH_dom IPR005821, Ion_trans_dom IPR014873, VDCC_a1su_IQ IPR005449, VDCC_R_a1su IPR002077, VDCCAlpha1 IPR027359, Volt_channel_dom_sf |
PANTHERi | PTHR45628:SF5, PTHR45628:SF5, 1 hit |
Pfami | View protein in Pfam PF08763, Ca_chan_IQ, 1 hit PF16905, GPHH, 1 hit PF00520, Ion_trans, 4 hits |
PRINTSi | PR00167, CACHANNEL PR01633, RVDCCALPHA1 |
SMARTi | View protein in SMART SM01062, Ca_chan_IQ, 1 hit |
PROSITEi | View protein in PROSITE PS50222, EF_HAND_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CAC1E_HUMAN | |
Accessioni | Q15878Primary (citable) accession number: Q15878 Secondary accession number(s): B1AM12 Q14581 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | October 14, 2008 | |
Last modified: | February 10, 2021 | |
This is version 194 of the entry and version 3 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
3D-structure, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families