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UniProtKB - Q13936 (CAC1C_HUMAN)

Protein

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

Gene

CACNA1C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi363Calcium1 Publication1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi1553 – 1564By similarityAdd BLAST12

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-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

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q13936

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.1.11.4 the voltage-gated ion channel (vic) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CACNA1C
Synonyms:CACH2, CACN2, CACNL1A1, CCHL1A1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000151067.20

Human Gene Nomenclature Database

More...HGNCi		HGNC:1390 CACNA1C

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		114205 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q13936

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 124CytoplasmicCuratedAdd BLAST124
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		775

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		CACNA1C

MalaCards human disease database

More...MalaCardsi		CACNA1C
MIMi601005 phenotype
611875 phenotype

Open Targets

More...OpenTargetsi		ENSG00000151067

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		130 Brugada syndrome
65283 Timothy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA83

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1940

Drug and drug target database

More...DrugBanki		DB00381 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

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		529

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CACNA1C

Domain mapping of disease mutations (DMDM)

More...DMDMi		308153651

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000539281 – 2221Voltage-dependent L-type calcium channel subunit alpha-1CAdd BLAST2221

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi153N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi298 ↔ 326By similarity
Disulfide bondi316 ↔ 332By similarity
Glycosylationi328N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q13936

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q13936

PeptideAtlas

More...PeptideAtlasi		Q13936

PRoteomics IDEntifications database

More...PRIDEi		Q13936

ProteomicsDB human proteome resource

More...ProteomicsDBi		59725
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

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q13936

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q13936

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000151067 Expressed in 166 organ(s), highest expression level in heart

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q13936 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q13936 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB079031
HPA039796

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		107229, 16 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-3195 Cardiac muscle VGCC complex

Database of interacting proteins

More...DIPi		DIP-29589N

Protein interaction database and analysis system

More...IntActi		Q13936, 9 interactors

Molecular INTeraction database

More...MINTi		Q13936

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000266376

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q13936

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1T0JX-ray2.00C428-445[»]
2BE6X-ray2.00D/E/F1659-1692[»]
2F3YX-ray1.45B1665-1685[»]
2F3ZX-ray1.60B1665-1685[»]
2LQCNMR-B47-68[»]
3G43X-ray2.10E/F1609-1682[»]
3OXQX-ray2.55E/F1609-1685[»]
5V2PX-ray2.00B427-445[»]
5V2QX-ray1.70B427-445[»]
6DADX-ray1.65C/D1659-1692[»]
6DAEX-ray2.00C/D1659-1692[»]
6DAFX-ray2.40C/D1659-1692[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q13936

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q13936

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q13936

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati111 – 408IAdd BLAST298
Repeati510 – 756IIAdd BLAST247
Repeati887 – 1189IIIAdd BLAST303
Repeati1226 – 1527IVAdd BLAST302

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>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
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>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
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi654 – 660Poly-Leu7
Compositional biasi768 – 774Poly-Glu7
Compositional biasi1167 – 1173Poly-Ile7
Compositional biasi2084 – 2087Poly-Gly4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1C subfamily. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2301 Eukaryota
ENOG410XNP6 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156127

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG050763

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q13936

KEGG Orthology (KO)

More...KOi		K04850

Database of Orthologous Groups

More...OrthoDBi		172471at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q13936

TreeFam database of animal gene trees

More...TreeFami		TF312805

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.120.350, 6 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View 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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08763 Ca_chan_IQ, 1 hit
PF16885 CAC1F_C, 2 hits
PF16905 GPHH, 1 hit
PF00520 Ion_trans, 5 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00167 CACHANNEL
PR01630 LVDCCALPHA1
PR01635 LVDCCALPHA1C

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01062 Ca_chan_IQ, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (37+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 37 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MSA1A0A0A0MSA1_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
2,173Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MR67A0A0A0MR67_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
2,173Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PDI6E9PDI6_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
2,209Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GY28F5GY28_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
2,209Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H638F5H638_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
1,279Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WZV3A0A087WZV3_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
829Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WUX4A0A087WUX4_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
243Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WV93A0A087WV93_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
144Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H0X0F5H0X0_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1C
100Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 Publication