UniProtKB - O43497 (CAC1G_HUMAN)
Voltage-dependent T-type calcium channel subunit alpha-1G
CACNA1G
Functioni
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 354 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 924 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 1465 | Calcium ion selectivity and permeabilityBy similarity | 1 | |
Sitei | 1770 | Calcium ion selectivity and permeabilityBy similarity | 1 |
GO - Molecular functioni
- cation channel activity Source: GO_Central
- low voltage-gated calcium channel activity Source: UniProtKB
- scaffold protein binding Source: BHF-UCL
- voltage-gated calcium channel activity involved in AV node cell action potential Source: BHF-UCL
- voltage-gated calcium channel activity involved SA node cell action potential Source: BHF-UCL
- voltage-gated sodium channel activity Source: GO_Central
GO - Biological processi
- AV node cell action potential Source: BHF-UCL
- AV node cell to bundle of His cell signaling Source: BHF-UCL
- calcium ion import Source: BHF-UCL
- calcium ion transmembrane transport Source: UniProtKB
- cardiac muscle cell action potential involved in contraction Source: BHF-UCL
- chemical synaptic transmission Source: Ensembl
- membrane depolarization during action potential Source: GO_Central
- membrane depolarization during AV node cell action potential Source: BHF-UCL
- membrane depolarization during SA node cell action potential Source: BHF-UCL
- neuronal action potential Source: GO_Central
- positive regulation of calcium ion-dependent exocytosis Source: GO_Central
- regulation of atrial cardiac muscle cell membrane depolarization Source: Ensembl
- regulation of heart rate by cardiac conduction Source: BHF-UCL
- regulation of ion transmembrane transport Source: UniProtKB-KW
- regulation of membrane potential Source: BHF-UCL
- response to nickel cation Source: Ensembl
- SA node cell action potential Source: BHF-UCL
- SA node cell to atrial cardiac muscle cell signaling Source: BHF-UCL
Keywordsi
Molecular function | Calcium channel, Ion channel, Voltage-gated channel |
Biological process | Calcium transport, Ion transport, Transport |
Ligand | Calcium |
Enzyme and pathway databases
PathwayCommonsi | O43497 |
Reactomei | R-HSA-419037, NCAM1 interactions |
Names & Taxonomyi
Protein namesi | Recommended name: Voltage-dependent T-type calcium channel subunit alpha-1GAlternative name(s): Cav3.1c NBR13 Voltage-gated calcium channel subunit alpha Cav3.1 |
Gene namesi | Name:CACNA1G Synonyms:KIAA1123 |
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
EuPathDBi | HostDB:ENSG00000006283.17 |
HGNCi | HGNC:1394, CACNA1G |
MIMi | 604065, gene |
neXtProti | NX_O43497 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Other locations
- Cytoplasm 1 Publication
Plasma Membrane
- plasma membrane Source: UniProtKB
- voltage-gated calcium channel complex Source: BHF-UCL
- voltage-gated sodium channel complex Source: GO_Central
Other locations
- cytoplasm Source: UniProtKB
- neuron projection Source: GO_Central
- synapse Source: GOC
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 80 | CytoplasmicSequence analysisAdd BLAST | 80 | |
Transmembranei | 81 – 101 | Helical; Name=S1 of repeat ISequence analysisAdd BLAST | 21 | |
Topological domaini | 102 – 119 | ExtracellularSequence analysisAdd BLAST | 18 | |
Transmembranei | 120 – 141 | Helical; Name=S2 of repeat ISequence analysisAdd BLAST | 22 | |
Topological domaini | 142 – 150 | CytoplasmicSequence analysis | 9 | |
Transmembranei | 151 – 170 | Helical; Name=S3 of repeat ISequence analysisAdd BLAST | 20 | |
Topological domaini | 171 – 175 | ExtracellularSequence analysis | 5 | |
Transmembranei | 176 – 193 | Helical; Name=S4 of repeat ISequence analysisAdd BLAST | 18 | |
Topological domaini | 194 – 213 | CytoplasmicSequence analysisAdd BLAST | 20 | |
Transmembranei | 214 – 234 | Helical; Name=S5 of repeat ISequence analysisAdd BLAST | 21 | |
Topological domaini | 235 – 370 | ExtracellularSequence analysisAdd BLAST | 136 | |
Transmembranei | 371 – 395 | Helical; Name=S6 of repeat ISequence analysisAdd BLAST | 25 | |
Topological domaini | 396 – 743 | CytoplasmicSequence analysisAdd BLAST | 348 | |
Transmembranei | 744 – 764 | Helical; Name=S1 of repeat IISequence analysisAdd BLAST | 21 | |
Topological domaini | 765 – 777 | ExtracellularSequence analysisAdd BLAST | 13 | |
Transmembranei | 778 – 799 | Helical; Name=S2 of repeat IISequence analysisAdd BLAST | 22 | |
Topological domaini | 800 – 805 | CytoplasmicSequence analysis | 6 | |
Transmembranei | 806 – 824 | Helical; Name=S3 of repeat IISequence analysisAdd BLAST | 19 | |
Topological domaini | 825 – 832 | ExtracellularSequence analysis | 8 | |
Transmembranei | 833 – 856 | Helical; Name=S4 of repeat IISequence analysisAdd BLAST | 24 | |
Topological domaini | 857 – 867 | CytoplasmicSequence analysisAdd BLAST | 11 | |
Transmembranei | 868 – 888 | Helical; Name=S5 of repeat IISequence analysisAdd BLAST | 21 | |
Topological domaini | 889 – 939 | ExtracellularSequence analysisAdd BLAST | 51 | |
Transmembranei | 940 – 964 | Helical; Name=S6 of repeat IISequence analysisAdd BLAST | 25 | |
Topological domaini | 965 – 1272 | CytoplasmicSequence analysisAdd BLAST | 308 | |
Transmembranei | 1273 – 1295 | Helical; Name=S1 of repeat IIISequence analysisAdd BLAST | 23 | |
Topological domaini | 1296 – 1313 | ExtracellularSequence analysisAdd BLAST | 18 | |
Transmembranei | 1314 – 1334 | Helical; Name=S2 of repeat IIISequence analysisAdd BLAST | 21 | |
Topological domaini | 1335 – 1344 | CytoplasmicSequence analysis | 10 | |
Transmembranei | 1345 – 1364 | Helical; Name=S3 of repeat IIISequence analysisAdd BLAST | 20 | |
Topological domaini | 1365 – 1378 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 1379 – 1400 | Helical; Name=S4 of repeat IIISequence analysisAdd BLAST | 22 | |
Topological domaini | 1401 – 1410 | CytoplasmicSequence analysis | 10 | |
Transmembranei | 1411 – 1434 | Helical; Name=S5 of repeat IIISequence analysisAdd BLAST | 24 | |
Topological domaini | 1435 – 1511 | ExtracellularSequence analysisAdd BLAST | 77 | |
Transmembranei | 1512 – 1537 | Helical; Name=S6 of repeat IIISequence analysisAdd BLAST | 26 | |
Topological domaini | 1538 – 1610 | CytoplasmicSequence analysisAdd BLAST | 73 | |
Transmembranei | 1611 – 1631 | Helical; Name=S1 of repeat IVSequence analysisAdd BLAST | 21 | |
Topological domaini | 1632 – 1645 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 1646 – 1667 | Helical; Name=S2 of repeat IVSequence analysisAdd BLAST | 22 | |
Topological domaini | 1668 – 1674 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 1675 – 1693 | Helical; Name=S3 of repeat IVSequence analysisAdd BLAST | 19 | |
Topological domaini | 1694 – 1707 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 1708 – 1731 | Helical; Name=S4 of repeat IVSequence analysisAdd BLAST | 24 | |
Topological domaini | 1732 – 1745 | CytoplasmicSequence analysisAdd BLAST | 14 | |
Transmembranei | 1746 – 1766 | Helical; Name=S5 of repeat IVSequence analysisAdd BLAST | 21 | |
Topological domaini | 1767 – 1826 | ExtracellularSequence analysisAdd BLAST | 60 | |
Transmembranei | 1827 – 1854 | Helical; Name=S6 of repeat IVSequence analysisAdd BLAST | 28 | |
Topological domaini | 1855 – 2377 | CytoplasmicSequence analysisAdd BLAST | 523 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
Spinocerebellar ataxia 42 (SCA42)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076292 | 1715 | R → H in SCA42; changed voltage-gated calcium channel activity; membrane potential dependency is shifted toward more positive potentials. 2 PublicationsCorresponds to variant dbSNP:rs755221106EnsemblClinVar. | 1 |
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (SCA42ND)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081177 | 961 | A → T in SCA42ND; gain-of-function mutation; results in slower channel inactivation and negatively shifted potential for half-inactivation. 1 PublicationCorresponds to variant dbSNP:rs886041505EnsemblClinVar. | 1 | |
Natural variantiVAR_081178 | 1531 | M → V in SCA42ND; gain-of-function mutation; results in slower channel inactivation and negatively shifted potential for half-inactivation. 1 PublicationCorresponds to variant dbSNP:rs1555558553EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Neurodegeneration, Spinocerebellar ataxiaOrganism-specific databases
DisGeNETi | 8913 |
MalaCardsi | CACNA1G |
MIMi | 616795, phenotype 618087, phenotype |
OpenTargetsi | ENSG00000006283 |
Orphaneti | 458803, Spinocerebellar ataxia type 42 |
PharmGKBi | PA381 |
Miscellaneous databases
Pharosi | O43497, Tclin |
Chemistry databases
ChEMBLi | CHEMBL4641 |
DrugBanki | DB09231, Benidipine DB13746, Bioallethrin DB11148, Butamben DB11093, Calcium citrate DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate DB09061, Cannabidiol DB00568, Cinnarizine DB00228, Enflurane DB00153, Ergocalciferol DB00593, Ethosuximide DB04841, Flunarizine DB09238, Manidipine DB14009, Medical Cannabis DB05246, Methsuximide DB01388, Mibefradil DB14011, Nabiximols DB01115, Nifedipine DB00421, Spironolactone DB09089, Trimebutine DB00347, Trimethadione DB00661, Verapamil DB00909, Zonisamide |
DrugCentrali | O43497 |
GuidetoPHARMACOLOGYi | 535 |
Polymorphism and mutation databases
BioMutai | CACNA1G |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000053952 | 1 – 2377 | Voltage-dependent T-type calcium channel subunit alpha-1GAdd BLAST | 2377 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 173 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 246 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 306 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 310 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 322 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 467 | PhosphoserineBy similarity | 1 | |
Modified residuei | 715 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1139 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1145 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1146 | PhosphoserineBy similarity | 1 | |
Glycosylationi | 1448 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1451 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1698 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
jPOSTi | O43497 |
MassIVEi | O43497 |
PaxDbi | O43497 |
PeptideAtlasi | O43497 |
PRIDEi | O43497 |
ProteomicsDBi | 48982 [O43497-1] 48983 [O43497-10] 48984 [O43497-11] 48985 [O43497-12] 48986 [O43497-13] 48987 [O43497-2] 48988 [O43497-3] 48989 [O43497-4] 48990 [O43497-5] 48991 [O43497-6] 48992 [O43497-7] 48993 [O43497-8] 48994 [O43497-9] 61180 61181 61182 61183 61184 61185 61186 61187 61188 61189 61190 61191 61192 61193 61194 61195 61196 61197 |
PTM databases
GlyGeni | O43497, 8 sites |
iPTMneti | O43497 |
PhosphoSitePlusi | O43497 |
Expressioni
Tissue specificityi
Developmental stagei
Gene expression databases
Bgeei | ENSG00000006283, Expressed in cerebellum and 166 other tissues |
ExpressionAtlasi | O43497, baseline and differential |
Genevisiblei | O43497, HS |
Organism-specific databases
HPAi | ENSG00000006283, Tissue enhanced (brain, cervix, uterine) |
Interactioni
GO - Molecular functioni
- scaffold protein binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 114427, 4 interactors |
IntActi | O43497, 2 interactors |
STRINGi | 9606.ENSP00000352011 |
Chemistry databases
BindingDBi | O43497 |
Miscellaneous databases
RNActi | O43497, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O43497 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 68 – 398 | IAdd BLAST | 331 | |
Repeati | 729 – 967 | IIAdd BLAST | 239 | |
Repeati | 1263 – 1540 | IIIAdd BLAST | 278 | |
Repeati | 1596 – 1854 | IVAdd BLAST | 259 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 290 – 295 | Poly-Gly | 6 | |
Compositional biasi | 496 – 506 | Poly-HisAdd BLAST | 11 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2302, Eukaryota |
GeneTreei | ENSGT00940000159664 |
HOGENOMi | CLU_000540_2_0_1 |
InParanoidi | O43497 |
OMAi | RCLIAVY |
OrthoDBi | 172471at2759 |
PhylomeDBi | O43497 |
TreeFami | TF313555 |
Family and domain databases
Gene3Di | 1.20.120.350, 4 hits |
InterProi | View protein in InterPro IPR005821, Ion_trans_dom IPR005445, VDCC_T_a1 IPR002077, VDCCAlpha1 IPR043203, VGCC_Ca_Na IPR027359, Volt_channel_dom_sf |
PANTHERi | PTHR10037, PTHR10037, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 4 hits |
PRINTSi | PR00167, CACHANNEL PR01629, TVDCCALPHA1 |
s (35+)i Sequence
Sequence statusi: Complete.
This entry describes 35 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 35 described isoforms and 3 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
MDEEEDGAGA EESGQPRSFM RLNDLSGAGG RPGPGSAEKD PGSADSEAEG
60 70 80 90 100
LPYPALAPVV FFYLSQDSRP RSWCLRTVCN PWFERISMLV ILLNCVTLGM
110 120 130 140 150
FRPCEDIACD SQRCRILQAF DDFIFAFFAV EMVVKMVALG IFGKKCYLGD
160 170 180 190 200
TWNRLDFFIV IAGMLEYSLD LQNVSFSAVR TVRVLRPLRA INRVPSMRIL
210 220 230 240 250
VTLLLDTLPM LGNVLLLCFF VFFIFGIVGV QLWAGLLRNR CFLPENFSLP
260 270 280 290 300
LSVDLERYYQ TENEDESPFI CSQPRENGMR SCRSVPTLRG DGGGGPPCGL
310 320 330 340 350
DYEAYNSSSN TTCVNWNQYY TNCSAGEHNP FKGAINFDNI GYAWIAIFQV
360 370 380 390 400
ITLEGWVDIM YFVMDAHSFY NFIYFILLII VGSFFMINLC LVVIATQFSE
410 420 430 440 450
TKQRESQLMR EQRVRFLSNA STLASFSEPG SCYEELLKYL VYILRKAARR
460 470 480 490 500
LAQVSRAAGV RVGLLSSPAP LGGQETQPSS SCSRSHRRLS VHHLVHHHHH
510 520 530 540 550
HHHHYHLGNG TLRAPRASPE IQDRDANGSR RLMLPPPSTP ALSGAPPGGA
560 570 580 590 600
ESVHSFYHAD CHLEPVRCQA PPPRSPSEAS GRTVGSGKVY PTVHTSPPPE
610 620 630 640 650
TLKEKALVEV AASSGPPTLT SLNIPPGPYS SMHKLLETQS TGACQSSCKI
660 670 680 690 700
SSPCLKADSG ACGPDSCPYC ARAGAGEVEL ADREMPDSDS EAVYEFTQDA
710 720 730 740 750
QHSDLRDPHS RRQRSLGPDA EPSSVLAFWR LICDTFRKIV DSKYFGRGIM
760 770 780 790 800
IAILVNTLSM GIEYHEQPEE LTNALEISNI VFTSLFALEM LLKLLVYGPF
810 820 830 840 850
GYIKNPYNIF DGVIVVISVW EIVGQQGGGL SVLRTFRLMR VLKLVRFLPA
860 870 880 890 900
LQRQLVVLMK TMDNVATFCM LLMLFIFIFS ILGMHLFGCK FASERDGDTL
910 920 930 940 950
PDRKNFDSLL WAIVTVFQIL TQEDWNKVLY NGMASTSSWA ALYFIALMTF
960 970 980 990 1000
GNYVLFNLLV AILVEGFQAE EISKREDASG QLSCIQLPVD SQGGDANKSE
1010 1020 1030 1040 1050
SEPDFFSPSL DGDGDRKKCL ALVSLGEHPE LRKSLLPPLI IHTAATPMSL
1060 1070 1080 1090 1100
PKSTSTGLGE ALGPASRRTS SSGSAEPGAA HEMKSPPSAR SSPHSPWSAA
1110 1120 1130 1140 1150
SSWTSRRSSR NSLGRAPSLK RRSPSGERRS LLSGEGQESQ DEEESSEEER
1160 1170 1180 1190 1200
ASPAGSDHRH RGSLEREAKS SFDLPDTLQV PGLHRTASGR GSASEHQDCN
1210 1220 1230 1240 1250
GKSASGRLAR ALRPDDPPLD GDDADDEGNL SKGERVRAWI RARLPACCLE
1260 1270 1280 1290 1300
RDSWSAYIFP PQSRFRLLCH RIITHKMFDH VVLVIIFLNC ITIAMERPKI
1310 1320 1330 1340 1350
DPHSAERIFL TLSNYIFTAV FLAEMTVKVV ALGWCFGEQA YLRSSWNVLD
1360 1370 1380 1390 1400
GLLVLISVID ILVSMVSDSG TKILGMLRVL RLLRTLRPLR VISRAQGLKL
1410 1420 1430 1440 1450
VVETLMSSLK PIGNIVVICC AFFIIFGILG VQLFKGKFFV CQGEDTRNIT
1460 1470 1480 1490 1500
NKSDCAEASY RWVRHKYNFD NLGQALMSLF VLASKDGWVD IMYDGLDAVG
1510 1520 1530 1540 1550
VDQQPIMNHN PWMLLYFISF LLIVAFFVLN MFVGVVVENF HKCRQHQEEE
1560 1570 1580 1590 1600
EARRREEKRL RRLEKKRRNL MLDDVIASGS SASAASEAQC KPYYSDYSRF
1610 1620 1630 1640 1650
RLLVHHLCTS HYLDLFITGV IGLNVVTMAM EHYQQPQILD EALKICNYIF
1660 1670 1680 1690 1700
TVIFVLESVF KLVAFGFRRF FQDRWNQLDL AIVLLSIMGI TLEEIEVNAS
1710 1720 1730 1740 1750
LPINPTIIRI MRVLRIARVL KLLKMAVGMR ALLDTVMQAL PQVGNLGLLF
1760 1770 1780 1790 1800
MLLFFIFAAL GVELFGDLEC DETHPCEGLG RHATFRNFGM AFLTLFRVST
1810 1820 1830 1840 1850
GDNWNGIMKD TLRDCDQEST CYNTVISPIY FVSFVLTAQF VLVNVVIAVL
1860 1870 1880 1890 1900
MKHLEESNKE AKEEAELEAE LELEMKTLSP QPHSPLGSPF LWPGVEGPDS
1910 1920 1930 1940 1950
PDSPKPGALH PAAHARSASH FSLEHPTDRQ LFDTISLLIQ GSLEWELKLM
1960 1970 1980 1990 2000
DELAGPGGQP SAFPSAPSLG GSDPQIPLAE MEALSLTSEI VSEPSCSLAL
2010 2020 2030 2040 2050
TDDSLPDDMH TLLLSALESN MQPHPTELPG PDLLTVRKSG VSRTHSLPND
2060 2070 2080 2090 2100
SYMCRHGSTA EGPLGHRGWG LPKAQSGSVL SVHSQPADTS YILQLPKDAP
2110 2120 2130 2140 2150
HLLQPHSAPT WGTIPKLPPP GRSPLAQRPL RRQAAIRTDS LDVQGLGSRE
2160 2170 2180 2190 2200
DLLAEVSGPS PPLARAYSFW GQSSTQAQQH SRSHSKISKH MTPPAPCPGP
2210 2220 2230 2240 2250
EPNWGKGPPE TRSSLELDTE LSWISGDLLP PGGQEEPPSP RDLKKCYSVE
2260 2270 2280 2290 2300
AQSCQRRPTS WLDEQRRHSI AVSCLDSGSQ PHLGTDPSNL GGQPLGGPGS
2310 2320 2330 2340 2350
RPKKKLSPPS ITIDPPESQG PRTPPSPGIC LRRRAPSSDS KDPLASGPPD
2360 2370
SMAASPSPKK DVLSLSGLSS DPADLDP
The sequence of this isoform differs from the canonical sequence as follows:
971-993: Missing.
1928-1975: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1928-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1976-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1569-1587: NLMLDDVIASGSSASAASE → K
1928-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1569-1587: NLMLDDVIASGSSASAASE → K
1737-1743: Missing.
1928-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1569-1587: NLMLDDVIASGSSASAASE → K
1976-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1737-1743: Missing.
1928-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1928-2020: Missing.
2156-2234: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
1928-2020: Missing.
2156-2234: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
The sequence of this isoform differs from the canonical sequence as follows:
1569-1569: N → SKEKQMAD
1928-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
971-993: Missing.
1505-1538: Missing.
1928-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1505-1538: Missing.
1569-1587: NLMLDDVIASGSSASAASE → K
1928-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1505-1538: Missing.
1928-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1505-1538: Missing.
1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
1976-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1505-1538: Missing.
1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
1928-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
971-993: Missing.
1569-1587: NLMLDDVIASGSSASAASE → K
1743-1776: VGNLGLLFMLLFFIFAALGVELFGDLECDETHPC → LWAWSSLETWSVTRHTPVRAWAVMPPFGTLAWPS
1777-2377: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
971-993: Missing.
1736-1769: VMQALPQVGNLGLLFMLLFFIFAALGVELFGDLE → LWAWSSLETWSVTRHTPVRAWAVMPPFGTLAWPS
1770-2377: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
971-993: Missing.
1743-1776: VGNLGLLFMLLFFIFAALGVELFGDLECDETHPC → LWAWSSLETWSVTRHTPVRAWAVMPPFGTLAWPS
1777-2377: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1569-1587: NLMLDDVIASGSSASAASE → K
1743-1776: VGNLGLLFMLLFFIFAALGVELFGDLECDETHPC → LWAWSSLETWSVTRHTPVRAWAVMPPFGTLAWPS
1777-2377: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1743-1776: VGNLGLLFMLLFFIFAALGVELFGDLECDETHPC → LWAWSSLETWSVTRHTPVRAWAVMPPFGTLAWPS
1777-2377: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
1743-1776: VGNLGLLFMLLFFIFAALGVELFGDLECDETHPC → LWAWSSLETWSVTRHTPVRAWAVMPPFGTLAWPS
1777-2377: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
971-993: Missing.
1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
The sequence of this isoform differs from the canonical sequence as follows:
1505-1531: Missing.
1928-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1505-1529: Missing.
1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
1928-2020: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1505-1531: Missing.
1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
1928-2020: Missing.
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YAN0 | H0YAN0_HUMAN | Voltage-dependent T-type calcium ch... | CACNA1G | 337 | Annotation score: | ||
A0A0B4J1X2 | A0A0B4J1X2_HUMAN | Voltage-dependent T-type calcium ch... | CACNA1G | 1,555 | Annotation score: | ||
I3L2W8 | I3L2W8_HUMAN | Voltage-dependent T-type calcium ch... | CACNA1G | 277 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1345 | S → I in AAD12731 (PubMed:9495342).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081177 | 961 | A → T in SCA42ND; gain-of-function mutation; results in slower channel inactivation and negatively shifted potential for half-inactivation. 1 PublicationCorresponds to variant dbSNP:rs886041505EnsemblClinVar. | 1 | |
Natural variantiVAR_081178 | 1531 | M → V in SCA42ND; gain-of-function mutation; results in slower channel inactivation and negatively shifted potential for half-inactivation. 1 PublicationCorresponds to variant dbSNP:rs1555558553EnsemblClinVar. | 1 | |
Natural variantiVAR_076292 | 1715 | R → H in SCA42; changed voltage-gated calcium channel activity; membrane potential dependency is shifted toward more positive potentials. 2 PublicationsCorresponds to variant dbSNP:rs755221106EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000940 | 971 – 993 | Missing in isoform 1, isoform 2, isoform 3, isoform 4, isoform 8, isoform 9, isoform 10, isoform 21, isoform 26, isoform 27, isoform 28 and isoform 32. 4 PublicationsAdd BLAST | 23 | |
Alternative sequenceiVSP_047545 | 1505 – 1538 | Missing in isoform 21, isoform 22, isoform 23, isoform 24 and isoform 25. 1 PublicationAdd BLAST | 34 | |
Alternative sequenceiVSP_047546 | 1505 – 1531 | Missing in isoform 33 and isoform 35. 1 PublicationAdd BLAST | 27 | |
Alternative sequenceiVSP_047547 | 1505 – 1529 | Missing in isoform 34. 1 PublicationAdd BLAST | 25 | |
Alternative sequenceiVSP_000944 | 1569 – 1587 | NLMLD…SAASE → K in isoform 2, isoform 13, isoform 14, isoform 15, isoform 22, isoform 26 and isoform 29. 2 PublicationsAdd BLAST | 19 | |
Alternative sequenceiVSP_000943 | 1569 – 1586 | NLMLD…ASAAS → SKEKQMA in isoform 1, isoform 4, isoform 6, isoform 7, isoform 8, isoform 18, isoform 19, isoform 24, isoform 25, isoform 31, isoform 32, isoform 34 and isoform 35. 2 PublicationsAdd BLAST | 18 | |
Alternative sequenceiVSP_047548 | 1569 | N → SKEKQMAD in isoform 20. 1 Publication | 1 | |
Alternative sequenceiVSP_047549 | 1736 – 1769 | VMQAL…FGDLE → LWAWSSLETWSVTRHTPVRA WAVMPPFGTLAWPS in isoform 27. 1 PublicationAdd BLAST | 34 | |
Alternative sequenceiVSP_047550 | 1737 – 1743 | Missing in isoform 14 and isoform 16. 1 Publication | 7 | |
Alternative sequenceiVSP_047551 | 1743 – 1776 | VGNLG…ETHPC → LWAWSSLETWSVTRHTPVRA WAVMPPFGTLAWPS in isoform 26, isoform 28, isoform 29, isoform 30 and isoform 31. 1 PublicationAdd BLAST | 34 | |
Alternative sequenceiVSP_047552 | 1770 – 2377 | Missing in isoform 27. 1 PublicationAdd BLAST | 608 | |
Alternative sequenceiVSP_047553 | 1777 – 2377 | Missing in isoform 26, isoform 28, isoform 29, isoform 30 and isoform 31. 1 PublicationAdd BLAST | 601 | |
Alternative sequenceiVSP_000946 | 1928 – 2020 | Missing in isoform 1, isoform 2, isoform 4, isoform 6, isoform 9, isoform 11, isoform 13, isoform 14, isoform 16, isoform 17, isoform 18, isoform 20, isoform 21, isoform 22, isoform 23, isoform 25, isoform 33, isoform 34 and isoform 35. 4 PublicationsAdd BLAST | 93 | |
Alternative sequenceiVSP_000945 | 1928 – 1975 | Missing in isoform 10. CuratedAdd BLAST | 48 | |
Alternative sequenceiVSP_000947 | 1976 – 2020 | Missing in isoform 7, isoform 8, isoform 12, isoform 15 and isoform 24. 1 PublicationAdd BLAST | 45 | |
Alternative sequenceiVSP_000948 | 2156 – 2234 | Missing in isoform 4, isoform 17 and isoform 18. 1 PublicationAdd BLAST | 79 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6KZO | electron microscopy | 3.30 | A | 1-2377 | [»] | |
6KZP | electron microscopy | 3.10 | A | 2-2377 | [»] | |
SMRi | O43497 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114427, 4 interactors |
IntActi | O43497, 2 interactors |
STRINGi | 9606.ENSP00000352011 |
Chemistry databases
BindingDBi | O43497 |
ChEMBLi | CHEMBL4641 |
DrugBanki | DB09231, Benidipine DB13746, Bioallethrin DB11148, Butamben DB11093, Calcium citrate DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate DB09061, Cannabidiol DB00568, Cinnarizine DB00228, Enflurane DB00153, Ergocalciferol DB00593, Ethosuximide DB04841, Flunarizine DB09238, Manidipine DB14009, Medical Cannabis DB05246, Methsuximide DB01388, Mibefradil DB14011, Nabiximols DB01115, Nifedipine DB00421, Spironolactone DB09089, Trimebutine DB00347, Trimethadione DB00661, Verapamil DB00909, Zonisamide |
DrugCentrali | O43497 |
GuidetoPHARMACOLOGYi | 535 |
PTM databases
GlyGeni | O43497, 8 sites |
iPTMneti | O43497 |
PhosphoSitePlusi | O43497 |
Polymorphism and mutation databases
BioMutai | CACNA1G |
Proteomic databases
jPOSTi | O43497 |
MassIVEi | O43497 |
PaxDbi | O43497 |
PeptideAtlasi | O43497 |
PRIDEi | O43497 |
ProteomicsDBi | 48982 [O43497-1] 48983 [O43497-10] 48984 [O43497-11] 48985 [O43497-12] 48986 [O43497-13] 48987 [O43497-2] 48988 [O43497-3] 48989 [O43497-4] 48990 [O43497-5] 48991 [O43497-6] 48992 [O43497-7] 48993 [O43497-8] 48994 [O43497-9] 61180 61181 61182 61183 61184 61185 61186 61187 61188 61189 61190 61191 61192 61193 61194 61195 61196 61197 |
Protocols and materials databases
ABCDi | O43497, 1 sequenced antibody |
Antibodypediai | 1340, 315 antibodies |
Genome annotation databases
Organism-specific databases
CTDi | 8913 |
DisGeNETi | 8913 |
EuPathDBi | HostDB:ENSG00000006283.17 |
GeneCardsi | CACNA1G |
HGNCi | HGNC:1394, CACNA1G |
HPAi | ENSG00000006283, Tissue enhanced (brain, cervix, uterine) |
MalaCardsi | CACNA1G |
MIMi | 604065, gene 616795, phenotype 618087, phenotype |
neXtProti | NX_O43497 |
OpenTargetsi | ENSG00000006283 |
Orphaneti | 458803, Spinocerebellar ataxia type 42 |
PharmGKBi | PA381 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2302, Eukaryota |
GeneTreei | ENSGT00940000159664 |
HOGENOMi | CLU_000540_2_0_1 |
InParanoidi | O43497 |
OMAi | RCLIAVY |
OrthoDBi | 172471at2759 |
PhylomeDBi | O43497 |
TreeFami | TF313555 |
Enzyme and pathway databases
PathwayCommonsi | O43497 |
Reactomei | R-HSA-419037, NCAM1 interactions |
Miscellaneous databases
BioGRID-ORCSi | 8913, 12 hits in 842 CRISPR screens |
ChiTaRSi | CACNA1G, human |
GeneWikii | CACNA1G |
GenomeRNAii | 8913 |
Pharosi | O43497, Tclin |
PROi | PR:O43497 |
RNActi | O43497, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000006283, Expressed in cerebellum and 166 other tissues |
ExpressionAtlasi | O43497, baseline and differential |
Genevisiblei | O43497, HS |
Family and domain databases
Gene3Di | 1.20.120.350, 4 hits |
InterProi | View protein in InterPro IPR005821, Ion_trans_dom IPR005445, VDCC_T_a1 IPR002077, VDCCAlpha1 IPR043203, VGCC_Ca_Na IPR027359, Volt_channel_dom_sf |
PANTHERi | PTHR10037, PTHR10037, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 4 hits |
PRINTSi | PR00167, CACHANNEL PR01629, TVDCCALPHA1 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CAC1G_HUMAN | |
Accessioni | O43497Primary (citable) accession number: O43497 Secondary accession number(s): D6RA64 Q9Y5T3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | December 1, 2000 | |
Last modified: | December 2, 2020 | |
This is version 179 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 polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - 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 - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations