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Protein

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

Gene

CACNA1C

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

Functioni

Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8392192, PubMed:7737988, PubMed:9087614, PubMed:9013606, PubMed:9607315, PubMed:12176756, PubMed:17071743, PubMed:11741969, PubMed:8099908, PubMed:12181424, PubMed:29078335, PubMed:29742403, PubMed:16299511, PubMed:20953164, PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506, PubMed:27218670). Mediates influx of calcium ions into the cytoplasm, and thereby triggers calcium release from the sarcoplasm (By similarity). Plays an important role in excitation-contraction coupling in the heart. Required for normal heart development and normal regulation of heart rhythm (PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506). Required for normal contraction of smooth muscle cells in blood vessels and in the intestine. Essential for normal blood pressure regulation via its role in the contraction of arterial smooth muscle cells (PubMed:28119464). Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group (Probable).By similarityCurated21 Publications
(Microbial infection) Acts as a receptor for Influenzavirus (PubMed:29779930). May play a critical role in allowing virus entry when sialylated and expressed on lung tissues (PubMed:29779930).1 Publication

Activity regulationi

Inhibited by dihydropyridines (DHP), such as isradipine (PubMed:8392192, PubMed:7737988, PubMed:9607315, PubMed:8099908). Inhibited by nifedipine (By similarity). Channel activity is regulated by Ca2+ and calmodulin (PubMed:29742403) (Probable). Binding of STAC1, STAC2 or STAC3 to a region that overlaps with the calmodulin binding site inhibits channel inactivation by Ca2+ and calmodulin (PubMed:29078335). Binding of calmodulin or CABP1 at the same regulatory sites results in opposite effects on the channel function (PubMed:15140941, PubMed:15980432). Shear stress and pressure increases calcium channel activity (PubMed:12176756).By similarity1 Publication9 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi363Calcium1 Publication1
Sitei363Calcium ion selectivity and permeability1 Publication1
Metal bindingi706Calcium1 Publication1
Sitei706Calcium ion selectivity and permeabilityBy similarity1
Metal bindingi1135Calcium1 Publication1
Sitei1135Calcium ion selectivity and permeability1 Publication1
Sitei1464Calcium ion selectivity and permeability1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi1553 – 1564By similarityAdd BLAST12

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionCalcium channel, Calmodulin-binding, Ion channel, Voltage-gated channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-419037 NCAM1 interactions
R-HSA-422356 Regulation of insulin secretion
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-5576893 Phase 2 - plateau phase
SIGNORiQ13936

Protein family/group databases

TCDBi1.A.1.11.4 the voltage-gated ion channel (vic) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
Voltage-dependent L-type calcium channel subunit alpha-1C
Alternative name(s):
Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle
Voltage-gated calcium channel subunit alpha Cav1.2
Gene namesi
Name:CACNA1C
Synonyms:CACH2, CACN2, CACNL1A1, CCHL1A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000151067.20
HGNCiHGNC:1390 CACNA1C
MIMi114205 gene
neXtProtiNX_Q13936

Subcellular locationi

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 124CytoplasmicCuratedAdd BLAST124
Transmembranei125 – 143Helical; Name=S1 of repeat IBy similarityAdd BLAST19
Topological domaini144 – 158ExtracellularCuratedAdd BLAST15
Transmembranei159 – 179Helical; Name=S2 of repeat IBy similarityAdd BLAST21
Topological domaini180 – 188CytoplasmicCurated9
Transmembranei189 – 209Helical; Name=S3 of repeat IBy similarityAdd BLAST21
Topological domaini210 – 232ExtracellularCuratedAdd BLAST23
Transmembranei233 – 251Helical; Name=S4 of repeat IBy similarityAdd BLAST19
Topological domaini252 – 268CytoplasmicCuratedAdd BLAST17
Transmembranei269 – 290Helical; Name=S5 of repeat IBy similarityAdd BLAST22
Topological domaini291 – 350ExtracellularCuratedAdd BLAST60
Intramembranei351 – 372Pore-formingBy similarityAdd BLAST22
Topological domaini373 – 380ExtracellularCurated8
Transmembranei381 – 401Helical; Name=S6 of repeat IBy similarityAdd BLAST21
Topological domaini402 – 524CytoplasmicCuratedAdd BLAST123
Transmembranei525 – 543Helical; Name=S1 of repeat IIBy similarityAdd BLAST19
Topological domaini544 – 554ExtracellularCuratedAdd BLAST11
Transmembranei555 – 575Helical; Name=S2 of repeat IIBy similarityAdd BLAST21
Topological domaini576 – 586CytoplasmicCuratedAdd BLAST11
Transmembranei587 – 606Helical; Name=S3 of repeat IIBy similarityAdd BLAST20
Topological domaini607 – 615ExtracellularCurated9
Transmembranei616 – 634Helical; Name=S4 of repeat IIBy similarityAdd BLAST19
Topological domaini635 – 653CytoplasmicCuratedAdd BLAST19
Transmembranei654 – 673Helical; Name=S5 of repeat IIBy similarityAdd BLAST20
Topological domaini674 – 693ExtracellularCuratedAdd BLAST20
Intramembranei694 – 715Pore-formingBy similarityAdd BLAST22
Topological domaini716 – 725ExtracellularCurated10
Transmembranei726 – 745Helical; Name=S6 of repeat IIBy similarityAdd BLAST20
Topological domaini746 – 900CytoplasmicCuratedAdd BLAST155
Transmembranei901 – 919Helical; Name=S1 of repeat IIIBy similarityAdd BLAST19
Topological domaini920 – 931ExtracellularCuratedAdd BLAST12
Transmembranei932 – 952Helical; Name=S2 of repeat IIISequence analysisAdd BLAST21
Topological domaini953 – 987CytoplasmicCuratedAdd BLAST35
Transmembranei988 – 1006Helical; Name=S3 of repeat IIIBy similarityAdd BLAST19
Topological domaini1007 – 1013ExtracellularCurated7
Transmembranei1014 – 1032Helical; Name=S4 of repeat IIIBy similarityAdd BLAST19
Topological domaini1033 – 1051CytoplasmicCuratedAdd BLAST19
Transmembranei1052 – 1071Helical; Name=S5 of repeat IIIBy similarityAdd BLAST20
Topological domaini1072 – 1121ExtracellularCuratedAdd BLAST50
Intramembranei1122 – 1142Pore-formingBy similarityAdd BLAST21
Topological domaini1143 – 1159ExtracellularCuratedAdd BLAST17
Transmembranei1160 – 1181Helical; Name=S6 of repeat IIIBy similarityAdd BLAST22
Topological domaini1182 – 1239CytoplasmicCuratedAdd BLAST58
Transmembranei1240 – 1261Helical; Name=S1 of repeat IVBy similarityAdd BLAST22
Topological domaini1262 – 1269ExtracellularCurated8
Transmembranei1270 – 1291Helical; Name=S2 of repeat IVBy similarityAdd BLAST22
Topological domaini1292 – 1301CytoplasmicCurated10
Transmembranei1302 – 1321Helical; Name=S3 of repeat IVBy similarityAdd BLAST20
Topological domaini1322 – 1372ExtracellularCuratedAdd BLAST51
Transmembranei1373 – 1391Helical; Name=S4 of repeat IVBy similarityAdd BLAST19
Topological domaini1392 – 1409CytoplasmicCuratedAdd BLAST18
Transmembranei1410 – 1430Helical; Name=S5 of repeat IVBy similarityAdd BLAST21
Topological domaini1431 – 1452ExtracellularCuratedAdd BLAST22
Intramembranei1453 – 1471Pore-formingBy similarityAdd BLAST19
Topological domaini1472 – 1499ExtracellularCuratedAdd BLAST28
Transmembranei1500 – 1524Helical; Name=S6 of repeat IVBy similarityAdd BLAST25
Topological domaini1525 – 2221CytoplasmicCuratedAdd BLAST697

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Timothy syndrome (TS)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDisorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism.
See also OMIM:601005
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07514828A → T in TS; only with cardiac manifestation; unknown pathological significance; increased channel activity. 1 Publication1
Natural variantiVAR_075151381P → S in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_026741402G → S in TS. 1 Publication1
Natural variantiVAR_026742406G → R in TS; causes a nearly complete loss of voltage-dependent channel inactivation. 1 Publication1
Natural variantiVAR_075152456M → I in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_075154518R → C in TS; only with cardiac manifestation; decreased current density; associated with slower inactivation; altered localization. 1 Publication1
Natural variantiVAR_075155518R → H in TS; only with cardiac manifestation; decreased current density; associated with slower inactivation. 1 Publication1
Natural variantiVAR_075156582A → D in TS; only with cardiac manifestation; gain of function effect on channel activity; slower inactivation. 1 Publication1
Natural variantiVAR_075158858R → H in TS; only with cardiac manifestation; gain of function effect on channel activity; slower inactivation. 1 Publication1
Natural variantiVAR_075159860R → G in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0723811186I → T in TS; electrophysiological phenotype, characterized by loss of current density and gain-of-function shift in activation leading to increased steady-state current; gain of function activity. 2 Publications1
Natural variantiVAR_0751601186I → V in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0751621523I → M in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0751631544E → K in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0751671800T → I in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication1
Natural variantiVAR_0751681831G → C in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_0751721953T → M in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication1
Natural variantiVAR_0751762097V → I in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication1
Brugada syndrome 3 (BRGDA3)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionA heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
See also OMIM:611875
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04403939A → V in BRGDA3; unknown pathological significance; affects channel activity. 1 Publication1
Natural variantiVAR_044040490G → R in BRGDA3; unknown pathological significance; affects channel activity. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi363E → K: Loss of selectivity for divalent over monovalent cations. 1 Publication1
Mutagenesisi954G → F: Affects voltage-dependent inhibition by dihydropyridines; when associated with I-958. 1 Publication1
Mutagenesisi958Y → I: Affects voltage-dependent inhibition by dihydropyridines; when associated with F-954. 1 Publication1
Mutagenesisi1135E → K: Loss of selectivity for divalent over monovalent cations. 1 Publication1
Mutagenesisi1464E → K: Loss of selectivity for divalent over monovalent cations. 1 Publication1
Mutagenesisi1610L → A: Loss of a low-affinity interaction with CALM1. No effect on channel inactivation by Ca(2+) and calmodulin. 1 Publication1
Mutagenesisi1666 – 1670FYATF → AAATA: Mildly decreased channel activity. No effect on channel inactivation. Loss of channel inactivation by Ca(2+) and calmodulin; when associated with A-1672. 1 Publication5
Mutagenesisi1672I → A: Loss of channel inactivation by Ca(2+) and calmodulin; when associated with 1666-A--A-1670. 1 Publication1

Keywords - Diseasei

Autism, Autism spectrum disorder, Brugada syndrome, Disease mutation, Long QT syndrome

Organism-specific databases

DisGeNETi775
GeneReviewsiCACNA1C
MalaCardsiCACNA1C
MIMi601005 phenotype
611875 phenotype
OpenTargetsiENSG00000151067
Orphaneti130 Brugada syndrome
65283 Timothy syndrome
PharmGKBiPA83

Chemistry databases

ChEMBLiCHEMBL1940
DrugBankiDB00381 Amlodipine
DB01373 Calcium
DB00568 Cinnarizine
DB04920 Clevidipine
DB04855 Dronedarone
DB06751 Drotaverine
DB00898 Ethanol
DB01023 Felodipine
DB00308 Ibutilide
DB00270 Isradipine
DB00653 Magnesium Sulfate
DB01388 Mibefradil
DB00622 Nicardipine
DB01115 Nifedipine
DB06712 Nilvadipine
DB00393 Nimodipine
DB00401 Nisoldipine
DB01054 Nitrendipine
DB00421 Spironolactone
DB00661 Verapamil
GuidetoPHARMACOLOGYi529

Polymorphism and mutation databases

BioMutaiCACNA1C
DMDMi308153651

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000539281 – 2221Voltage-dependent L-type calcium channel subunit alpha-1CAdd BLAST2221

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi153N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi298 ↔ 326By similarity
Disulfide bondi316 ↔ 332By similarity
Glycosylationi328N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei469PhosphoserineBy similarity1
Modified residuei476PhosphothreonineBy similarity1
Modified residuei808PhosphoserineBy similarity1
Modified residuei815PhosphoserineBy similarity1
Disulfide bondi1078 ↔ 1089By similarity
Glycosylationi1436N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1479 ↔ 1495By similarity
Glycosylationi1487N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1535Phosphoserine; by PKASequence analysis1
Modified residuei1718PhosphoserineBy similarity1
Modified residuei1739PhosphoserineBy similarity1
Modified residuei1973Phosphoserine; by PKASequence analysis1
Modified residuei1981Phosphoserine; by PKA1 Publication1

Post-translational modificationi

Phosphorylation by PKA activates the channel. Elevated levels of blood glucose lead to increased phosphorylation by PKA.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ13936
PeptideAtlasiQ13936
PRIDEiQ13936
ProteomicsDBi59725
59726 [Q13936-10]
59727 [Q13936-11]
59728 [Q13936-12]
59729 [Q13936-13]
59730 [Q13936-14]
59731 [Q13936-15]
59732 [Q13936-16]
59733 [Q13936-17]
59734 [Q13936-18]
59735 [Q13936-19]
59736 [Q13936-2]
59737 [Q13936-20]
59738 [Q13936-21]
59739 [Q13936-22]
59740 [Q13936-23]
59741 [Q13936-24]
59742 [Q13936-25]
59743 [Q13936-26]
59744 [Q13936-27]
59745 [Q13936-28]
59746 [Q13936-29]
59747 [Q13936-3]
59748 [Q13936-30]
59749 [Q13936-31]
59750 [Q13936-32]
59751 [Q13936-33]
59752 [Q13936-34]
59753 [Q13936-35]
59754 [Q13936-4]
59755 [Q13936-5]
59756 [Q13936-6]
59757 [Q13936-7]
59758 [Q13936-8]
59759 [Q13936-9]

PTM databases

iPTMnetiQ13936
PhosphoSitePlusiQ13936

Expressioni

Tissue specificityi

Detected throughout the brain, including hippocampus, cerebellum and amygdala, throughout the heart and vascular system, including ductus arteriosus, in urinary bladder, and in retina and sclera in the eye (PubMed:15454078). Expressed in brain, heart, jejunum, ovary, pancreatic beta-cells and vascular smooth muscle. Overall expression is reduced in atherosclerotic vascular smooth muscle.4 Publications

Gene expression databases

BgeeiENSG00000151067 Expressed in 166 organ(s), highest expression level in heart
ExpressionAtlasiQ13936 baseline and differential
GenevisibleiQ13936 HS

Organism-specific databases

HPAiCAB079031
HPA039796

Interactioni

Subunit structurei

Component of a calcium channel complex consisting of a pore-forming alpha subunit (CACNA1C) and ancillary beta, gamma and delta subunits (PubMed:12181424, PubMed:12176756, PubMed:29742403, PubMed:29078335, PubMed:15141227, PubMed:16299511, PubMed:20953164). The channel complex contains alpha, beta, gamma and delta subunits in a 1:1:1:1 ratio, i.e. it contains only one of each type of subunit (Probable). CACNA1C channel activity is modulated by ancillary subunits, such as CACNB1, CACNB2, CACNB3, CACNA2D1 and CACNA2D4 (PubMed:11741969, PubMed:12181424, PubMed:29742403, PubMed:17224476). Intereracts with the gamma subunits CACNG4, CACNG6, CACNG7 and CACNG8 (By similarity). Interacts with CACNB1 (By similarity). Interacts with CACNB2 (PubMed:12176756, PubMed:11741969, PubMed:29742403, PubMed:15141227, PubMed:20953164, PubMed:15863612, PubMed:17224476, PubMed:24728418). Identified in a complex with CACNA2D4 and CACNB3 (PubMed:12181424). Interacts with CACNB3 (PubMed:12181424, PubMed:29742403). Interacts with CACNA2D1 (PubMed:29742403, PubMed:20953164, PubMed:15863612, PubMed:24728418). Interacts with CACNA2D4 (PubMed:12181424). Interacts with CALM1 (PubMed:29742403, PubMed:16299511, PubMed:16338416, PubMed:19279214, PubMed:20953164, PubMed:22518098). Interacts (via the N-terminus and the C-terminal C and IQ motifs) with CABP1; this inhibits Ca2+-dependent channel inactivation (PubMed:15140941, PubMed:15980432). The binding via the C motif is calcium independent whereas the binding via IQ requires the presence of calcium and is mutually exclusive with calmodulin binding (PubMed:15140941). The binding to the cytoplasmic N-terminal domain is calcium independent but is essential for the channel modulation. Interacts (via C-terminal CDB motif) with CABP5; in a calcium-dependent manner (By similarity). Interacts with CIB1; the interaction increases upon cardiomyocytes hypertrophy (By similarity). Interacts with STAC2 and STAC3; this inhibits channel inactivation (PubMed:29078335).By similarityCurated16 Publications
(Microbial infection) Interacts with influenzavirus H1 hemagglutinin.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107229, 16 interactors
ComplexPortaliCPX-3195 Cardiac muscle VGCC complex
DIPiDIP-29589N
IntActiQ13936, 9 interactors
MINTiQ13936
STRINGi9606.ENSP00000266376

Chemistry databases

BindingDBiQ13936

Structurei

Secondary structure

12221
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ13936
SMRiQ13936
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13936

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati111 – 408IAdd BLAST298
Repeati510 – 756IIAdd BLAST247
Repeati887 – 1189IIIAdd BLAST303
Repeati1226 – 1527IVAdd BLAST302

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni47 – 68Calmodulin-binding1 PublicationAdd BLAST22
Regioni428 – 445AID/alpha-interaction domain; mediates interaction with the beta subunit1 PublicationAdd BLAST18
Regioni829 – 876Interaction with STAC21 PublicationAdd BLAST48
Regioni1109 – 1198Dihydropyridine bindingBy similarityAdd BLAST90
Regioni1478 – 1546Dihydropyridine bindingBy similarityAdd BLAST69
Regioni1492 – 1534Phenylalkylamine bindingBy similarityAdd BLAST43
Regioni1659 – 1686Important for interaction with STAC1, STAC2 and STAC3By similarityAdd BLAST28
Regioni1665 – 1685Calmodulin-binding IQ region4 PublicationsAdd BLAST21
Regioni1699 – 1718Important for localization in at the junctional membraneBy similarityAdd BLAST20

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi361 – 364Selectivity filter of repeat IBy similarity4
Motifi704 – 707Selectivity filter of repeat IIBy similarity4
Motifi1133 – 1136Selectivity filter of repeat IIIBy similarity4
Motifi1462 – 1465Selectivity filter of repeat IVBy similarity4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi654 – 660Poly-Leu7
Compositional biasi768 – 774Poly-Glu7
Compositional biasi1167 – 1173Poly-Ile7
Compositional biasi2084 – 2087Poly-Gly4

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.Curated
Binding of intracellular calcium through the EF-hand motif inhibits the opening of the channel.By similarity

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2301 Eukaryota
ENOG410XNP6 LUCA
GeneTreeiENSGT00830000128247
HOVERGENiHBG050763
InParanoidiQ13936
KOiK04850
PhylomeDBiQ13936
TreeFamiTF312805

Family and domain databases

Gene3Di1.20.120.350, 6 hits
InterProiView protein in InterPro
IPR031688 CAC1F_C
IPR031649 GPHH_dom
IPR005821 Ion_trans_dom
IPR014873 VDCC_a1su_IQ
IPR005451 VDCC_L_a1csu
IPR005446 VDCC_L_a1su
IPR002077 VDCCAlpha1
IPR027359 Volt_channel_dom_sf
PfamiView protein in Pfam
PF08763 Ca_chan_IQ, 1 hit
PF16885 CAC1F_C, 2 hits
PF16905 GPHH, 1 hit
PF00520 Ion_trans, 5 hits
PRINTSiPR00167 CACHANNEL
PR01630 LVDCCALPHA1
PR01635 LVDCCALPHA1C
SMARTiView protein in SMART
SM01062 Ca_chan_IQ, 1 hit

Sequences (37+)i

Sequence statusi: Complete.

This entry describes 37 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist. Exons 8A, 21, 22, 31, 32, 33, 40B, 43A, 41A and 45 are alternatively spliced in a variety of combinations. Experimental confirmation may be lacking for some isoforms.

This entry has 37 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13936-1) [UniParc]FASTAAdd to basket
Also known as: HFCC, Fibroblast

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
MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL
60 70 80 90 100
SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP
110 120 130 140 150
PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED
160 170 180 190 200
DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF
210 220 230 240 250
IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG
260 270 280 290 300
VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN
310 320 330 340 350
QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA
360 370 380 390 400
FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV
410 420 430 440 450
LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE
460 470 480 490 500
NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS
510 520 530 540 550
KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN
560 570 580 590 600
WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI
610 620 630 640 650
LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS
660 670 680 690 700
IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF
710 720 730 740 750
QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA
760 770 780 790 800
IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK
810 820 830 840 850
EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE
860 870 880 890 900
PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT
910 920 930 940 950
IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL
960 970 980 990 1000
KILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS
1010 1020 1030 1040 1050
LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG
1060 1070 1080 1090 1100
NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE
1110 1120 1130 1140 1150
VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE
1160 1170 1180 1190 1200
DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC
1210 1220 1230 1240 1250
ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL
1260 1270 1280 1290 1300
LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS
1310 1320 1330 1340 1350
DPWNVFDFLI VIGSIIDVIL SETNHYFCDA WNTFDALIVV GSIVDIAITE
1360 1370 1380 1390 1400
VNPAEHTQCS PSMNAEENSR ISITFFRLFR VMRLVKLLSR GEGIRTLLWT
1410 1420 1430 1440 1450
FIKSFQALPY VALLIVMLFF IYAVIGMQVF GKIALNDTTE INRNNNFQTF
1460 1470 1480 1490 1500
PQAVLLLFRC ATGEAWQDIM LACMPGKKCA PESEPSNSTE GETPCGSSFA
1510 1520 1530 1540 1550
VFYFISFYML CAFLIINLFV AVIMDNFDYL TRDWSILGPH HLDEFKRIWA
1560 1570 1580 1590 1600
EYDPEAKGRI KHLDVVTLLR RIQPPLGFGK LCPHRVACKR LVSMNMPLNS
1610 1620 1630 1640 1650
DGTVMFNATL FALVRTALRI KTEGNLEQAN EELRAIIKKI WKRTSMKLLD
1660 1670 1680 1690 1700
QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ
1710 1720 1730 1740 1750
AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL
1760 1770 1780 1790 1800
FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST
1810 1820 1830 1840 1850
FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI
1860 1870 1880 1890 1900
RVQEVAWKLS SNRERHVPMC EDLELRRDSG SAGTQAHCLL LRKANPSRCH
1910 1920 1930 1940 1950
SRESQAAMAG QEETSQDETY EVKMNHDTEA CSEPSLLSTE MLSYQDDENR
1960 1970 1980 1990 2000
QLTLPEEDKR DIRQSPKRGF LRSASLGRRA SFHLECLKRQ KDRGGDISQK
2010 2020 2030 2040 2050
TVLPLHLVHH QALAVAGLSP LLQRSHSPAS FPRPFATPPA TPGSRGWPPQ
2060 2070 2080 2090 2100
PVPTLRLEGV ESSEKLNSSF PSIHCGSWAE TTPGGGGSSA ARRVRPVSLM
2110 2120 2130 2140 2150
VPSQAGAPGR QFHGSASSLV EAVLISEGLG QFAQDPKFIE VTTQELADAC
2160 2170 2180 2190 2200
DMTIEEMESA ADNILSGGAP QSPNGALLPF VNCRDAGQDR AGGEEDAGCV
2210 2220
RARGRPSEEE LQDSRVYVSS L
Length:2,221
Mass (Da):248,977
Last modified:October 5, 2010 - v4
Checksum:i7E755F7AF4C86769
GO
Isoform 2 (identifier: Q13936-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1864-1897: ERHVPMCEDLELRRDSGSAGTQAHCLLLRKANPS → MHCCDMLDGG...PAGCTAPQHA

Show »
Length:2,257
Mass (Da):252,507
Checksum:iDF66240B243CFD41
GO
Isoform 3 (identifier: Q13936-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF

Note: Contains exon 8a.
Show »
Length:2,221
Mass (Da):248,995
Checksum:iBE971E1A74A4F9AF
GO
Isoform 4 (identifier: Q13936-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.

Note: Lacks exon 21.
Show »
Length:2,201
Mass (Da):246,587
Checksum:iE930E8FDB611A310
GO
Isoform 5 (identifier: Q13936-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.

Note: Lacks exon 22.
Show »
Length:2,201
Mass (Da):246,724
Checksum:i491524D070A5EF23
GO
Isoform 6 (identifier: Q13936-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1297-1324: Missing.

Note: Lacks exon 31.
Show »
Length:2,193
Mass (Da):245,820
Checksum:i7661E18AB73EB11D
GO
Isoform 7 (identifier: Q13936-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1325-1352: Missing.

Note: Lacks exon 32.
Show »
Length:2,193
Mass (Da):245,868
Checksum:i3E74F4FE1EFDC425
GO
Isoform 8 (identifier: Q13936-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1353-1363: Missing.

Note: Lacks exon 33.
Show »
Length:2,210
Mass (Da):247,807
Checksum:iD48DBFDEFBEDF3DC
GO
Isoform 9 (identifier: Q13936-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1618-1699: LRIKTEGNLE...KPSQRNALSL → LREAELSSQV...RGPHHPPLGF

Note: Contains exon 40B and 43A.
Show »
Length:2,222
Mass (Da):248,607
Checksum:iD861F6A49A1E0B80
GO
Isoform 10 (identifier: Q13936-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA

Note: Contains exon 41A.
Show »
Length:2,240
Mass (Da):250,938
Checksum:iE8571E4C44FB3786
GO
Isoform 11 (identifier: Q13936-11) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.90

The sequence of this isoform differs from the canonical sequence as follows:
     1864-1898: Missing.

Note: Lacks exon 45.
Show »
Length:2,186
Mass (Da):245,047
Checksum:iE8D9E8F0FFDC1A4D
GO
Isoform 12 (identifier: Q13936-12) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.70

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1297-1324: Missing.
     1864-1898: Missing.

Show »
Length:2,138
Mass (Da):239,638
Checksum:i200DA905F439D369
GO
Isoform 13 (identifier: Q13936-13) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.127

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1325-1352: Missing.
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,157
Mass (Da):241,647
Checksum:i1153EEBBE8CE80B3
GO
Isoform 14 (identifier: Q13936-14) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.126

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1297-1324: Missing.
     1363-1363: M → MGPSCSHPPLAVLTAPPVADGFQ
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,179
Mass (Da):243,742
Checksum:i3826188216441CBC
GO
Isoform 15 (identifier: Q13936-15) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.125

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1297-1324: Missing.
     1351-1363: Missing.
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,144
Mass (Da):240,216
Checksum:iDB5FAF45ABBB5029
GO
Isoform 16 (identifier: Q13936-16) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     952-971: Missing.
     1325-1352: Missing.

Show »
Length:2,144
Mass (Da):240,337
Checksum:iC12EBA539FF14497
GO
Isoform 17 (identifier: Q13936-17) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     952-971: Missing.
     1325-1352: Missing.
     1864-1898: Missing.

Show »
Length:2,109
Mass (Da):236,407
Checksum:iC55728B593C24297
GO
Isoform 18 (identifier: Q13936-18) [UniParc]FASTAAdd to basket
Also known as: HHT-1

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     952-971: Missing.
     1325-1352: Missing.
     1864-1897: ERHVPMCEDLELRRDSGSAGTQAHCLLLRKANPS → MHCCDMLDGG...PAGCTAPQHA

Show »
Length:2,180
Mass (Da):243,867
Checksum:iBDAC026FE2CACCDF
GO
Isoform 19 (identifier: Q13936-19) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.76

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1297-1324: Missing.
     1353-1363: Missing.
     1864-1898: Missing.

Show »
Length:2,127
Mass (Da):238,331
Checksum:i8F48E5719F6E9E1A
GO
Isoform 20 (identifier: Q13936-20) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.77

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1297-1324: Missing.
     1864-1898: Missing.

Note: Predominant isoform in atherosclerotic vascular smooth muscle cells.
Show »
Length:2,138
Mass (Da):239,501
Checksum:iD79ED1D29A7A8BC4
GO
Isoform 21 (identifier: Q13936-21) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.69

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1325-1352: Missing.
     1864-1898: Missing.

Show »
Length:2,138
Mass (Da):239,549
Checksum:i543CE8B026838D86
GO
Isoform 22 (identifier: Q13936-22) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.78

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1325-1352: Missing.
     1864-1898: Missing.

Show »
Length:2,138
Mass (Da):239,686
Checksum:iA3AF906748C0D52B
GO
Isoform 23 (identifier: Q13936-23) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.105

The sequence of this isoform differs from the canonical sequence as follows:
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     932-951: Missing.
     1297-1324: Missing.
     1864-1898: Missing.

Show »
Length:2,138
Mass (Da):239,519
Checksum:i5CB0952B62394E78
GO
Isoform 24 (identifier: Q13936-24) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.71

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1297-1324: Missing.
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,157
Mass (Da):241,599
Checksum:iC4AAB050CF536648
GO
Isoform 25 (identifier: Q13936-25) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.73

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1297-1324: Missing.
     1353-1363: Missing.
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,146
Mass (Da):240,430
Checksum:iAA7E9FA59B52D8F8
GO
Isoform 26 (identifier: Q13936-26) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.86

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1297-1324: Missing.
     1618-1699: LRIKTEGNLE...KPSQRNALSL → LREAELSSQV...RGPHHPPLGF
     1864-1898: Missing.

Note: Not inhibited by calcium.
Show »
Length:2,139
Mass (Da):239,131
Checksum:i6EB51667F5ABD712
GO
Isoform 27 (identifier: Q13936-27) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.72

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1297-1324: Missing.
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,157
Mass (Da):241,462
Checksum:iC2DE4EA2A12B1F77
GO
Isoform 28 (identifier: Q13936-28) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     952-971: Missing.
     1297-1324: Missing.
     1353-1363: Missing.
     1864-1897: ERHVPMCEDLELRRDSGSAGTQAHCLLLRKANPS → MHCCDMLDGG...PAGCTAPQHA

Show »
Length:2,169
Mass (Da):242,650
Checksum:i53DBBEE14BEAB4C6
GO
Isoform 29 (identifier: Q13936-29) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.74

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1297-1324: Missing.
     1353-1363: Missing.
     1623-1623: E → EEGPSPSEAHQGAEDPFRPA
     1864-1898: Missing.

Show »
Length:2,146
Mass (Da):240,292
Checksum:iAEAF038ED91C729C
GO
Isoform 30 (identifier: Q13936-30) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.87

The sequence of this isoform differs from the canonical sequence as follows:
     1297-1324: Missing.
     1864-1898: Missing.

Show »
Length:2,158
Mass (Da):241,891
Checksum:iFB21849EC28ABB24
GO
Isoform 31 (identifier: Q13936-31) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.88

The sequence of this isoform differs from the canonical sequence as follows:
     952-971: Missing.
     1864-1898: Missing.

Show »
Length:2,166
Mass (Da):242,794
Checksum:i0929EBBC4916E1F2
GO
Isoform 32 (identifier: Q13936-32) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.89

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1353-1363: Missing.
     1864-1898: Missing.

Show »
Length:2,155
Mass (Da):241,488
Checksum:iF62ACB4D54FC4180
GO
Isoform 33 (identifier: Q13936-33) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C.85

The sequence of this isoform differs from the canonical sequence as follows:
     932-951: Missing.
     1297-1324: Missing.

Show »
Length:2,173
Mass (Da):243,430
Checksum:iEA4530716379E381
GO
Isoform 34 (identifier: Q13936-34) [UniParc]FASTAAdd to basket
Also known as: Alpha-1C,long-NT

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: MVNENTRMYIPEENHQ → MLRAFVQPGTPAYQPLPSHLSANTEVKFKGTLVHEAQLNYFYISPG

Note: Enhanced by PKC activator.
Show »
Length:2,251
Mass (Da):252,091
Checksum:i2A9D55B23A501120
GO
Isoform 35 (identifier: Q13936-35) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     306-308: Missing.
     952-971: Missing.
     1325-1352: Missing.
     1864-1898: Missing.

Show »
Length:2,135
Mass (Da):239,375
Checksum:iFB695F875A7F2449
GO
Isoform 36 (identifier: Q13936-36) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     952-971: Missing.
     1325-1352: Missing.

Note: Gene prediction based on EST data.
Show »
Length:2,173
Mass (Da):243,633
Checksum:i4819FD32FA521438
GO
Isoform 37 (identifier: Q13936-37) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     372-391: VNDAVGRDWPWIYFVTLIII → MQDAMGYELPWVYFVSLVIF
     952-971: Missing.
     1325-1352: Missing.
     1864-1898: Missing.

Note: Gene prediction based on EST data.
Show »
Length:2,138
Mass (Da):239,704
Checksum:i2881D49EB0831097
GO

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H522F5H522_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
2,163Annotation score:
A0A0A0MSA1A0A0A0MSA1_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
2,173Annotation score:
A0A0A0MR67A0A0A0MR67_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
2,173Annotation score:
F5GY28F5GY28_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
2,209Annotation score:
E9PDI6E9PDI6_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
2,209Annotation score:
F5H638F5H638_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
1,279Annotation score:
A0A087WZV3A0A087WZV3_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
829Annotation score:
A0A087WUX4A0A087WUX4_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
243Annotation score:
A0A087WV93A0A087WV93_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
144Annotation score:
F5H0X0F5H0X0_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
100Annotation score:

Sequence cautioni

The sequence AAA02500 differs from that shown. Reason: Frameshift at position 1844.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1072K → Q in Z26272 (PubMed:7959794).Curated1
Sequence conflicti1157N → K in AAA58409 (PubMed:1653763).Curated1
Sequence conflicti1244L → P in AAA74590 (PubMed:1335957).Curated1
Sequence conflicti1384L → P in AAA74590 (PubMed:1335957).Curated1
Sequence conflicti1412A → V in AAI46847 (PubMed:15489334).Curated1
Sequence conflicti1459R → K in CAA81219 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84340 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84341 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84342 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84343 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84344 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84345 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84346 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84347 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84348 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84349 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84350 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA84351 (PubMed:7959794).Curated1
Sequence conflicti2205R → A in CAA12174 (PubMed:9607315).Curated1
Sequence conflicti2205R → A in AAX37354 (PubMed:17071743).Curated1
Sequence conflicti2205R → A in AAX37355 (PubMed:17071743).Curated1
Sequence conflicti2205R → A in AAX37356 (PubMed:17071743).Curated1
Sequence conflicti2205R → G in AAA17030 (PubMed:1316612).Curated1
Isoform 26 (identifier: Q13936-26)
Sequence conflicti1573A → T in CAA84348 (PubMed:7959794).1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07514828A → T in TS; only with cardiac manifestation; unknown pathological significance; increased channel activity. 1 Publication1
Natural variantiVAR_07514937G → R Polymorphism. 1 Publication1
Natural variantiVAR_04403939A → V in BRGDA3; unknown pathological significance; affects channel activity. 1 Publication1
Natural variantiVAR_04598784Q → R3 PublicationsCorresponds to variant dbSNP:rs1051345Ensembl.1
Natural variantiVAR_075150304I → T Polymorphism. 1 Publication1
Natural variantiVAR_075151381P → S in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_045988391I → L. Corresponds to variant dbSNP:rs1051356Ensembl.1
Natural variantiVAR_026741402G → S in TS. 1 Publication1
Natural variantiVAR_026742406G → R in TS; causes a nearly complete loss of voltage-dependent channel inactivation. 1 Publication1
Natural variantiVAR_075152456M → I in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_075153477E → K Polymorphism. 1 Publication1
Natural variantiVAR_044040490G → R in BRGDA3; unknown pathological significance; affects channel activity. 1 Publication1
Natural variantiVAR_075154518R → C in TS; only with cardiac manifestation; decreased current density; associated with slower inactivation; altered localization. 1 Publication1
Natural variantiVAR_075155518R → H in TS; only with cardiac manifestation; decreased current density; associated with slower inactivation. 1 Publication1
Natural variantiVAR_075156582A → D in TS; only with cardiac manifestation; gain of function effect on channel activity; slower inactivation. 1 Publication1
Natural variantiVAR_001495752A → T. 1
Natural variantiVAR_075157817P → S Polymorphism. 1 Publication1
Natural variantiVAR_076414850Missing Rare variant; found in a case of sudden unexplained death in the young; unknown pathological significance; results in reduced whole-cell calcium currents. 1 Publication1
Natural variantiVAR_075158858R → H in TS; only with cardiac manifestation; gain of function effect on channel activity; slower inactivation. 1 Publication1
Natural variantiVAR_075159860R → G in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_064700878S → R Found in a clear cell renal carcinoma case; somatic mutation. 1 Publication1
Natural variantiVAR_0787011159R → H Found in a patient with autism; unknown pathological significance. 1 Publication1
Natural variantiVAR_0723811186I → T in TS; electrophysiological phenotype, characterized by loss of current density and gain-of-function shift in activation leading to increased steady-state current; gain of function activity. 2 Publications1
Natural variantiVAR_0751601186I → V in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0751611365A → T Polymorphism. 1 Publication1
Natural variantiVAR_0751621523I → M in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0751631544E → K in TS; only with cardiac manifestation; gain of function activity. 1 Publication1
Natural variantiVAR_0751641755V → I Polymorphism. 1 Publication1
Natural variantiVAR_0751651765A → G Polymorphism. 1 Publication1
Natural variantiVAR_0751661787D → N Polymorphism. 1 Publication1
Natural variantiVAR_0751671800T → I in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication1
Natural variantiVAR_0751681831G → C in TS; only with cardiac manifestation; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_0751691835T → M Polymorphism. 1 Publication1
Natural variantiVAR_0751701843G → A Polymorphism. 1 Publication1
Natural variantiVAR_0592231868P → L. Corresponds to variant dbSNP:rs10848683Ensembl.1
Natural variantiVAR_0592241869M → V3 PublicationsCorresponds to variant dbSNP:rs10774053Ensembl.1
Natural variantiVAR_0611021893K → R3 PublicationsCorresponds to variant dbSNP:rs10774054Ensembl.1
Natural variantiVAR_0751711948E → K Polymorphism. 1 Publication1
Natural variantiVAR_0751721953T → M in TS; only with cardiac manifestation; unknown pathological significance. 1 Publication1
Natural variantiVAR_0751731972R → C Polymorphism. 1 Publication1
Natural variantiVAR_0751742056R → Q Polymorphism. 1 Publication1
Natural variantiVAR_0751752081T → N Polymorphism. 1 Publication