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Entry version 198 (13 Feb 2019)
Sequence version 4 (14 Oct 2008)
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Protein

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

Gene

CACNA1S

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-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca2+ release from the sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group.By similarity

<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

Channel activity is blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines.By similarity

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 bindingi292CalciumBy similarity1
Metal bindingi614CalciumBy similarity1
Metal bindingi1014CalciumBy similarity1

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 bindingi1410 – 1421By 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

GO - Biological processi

  • calcium ion import Source: GO_Central
  • calcium ion transport Source: UniProtKB
  • cellular response to caffeine Source: UniProtKB
  • muscle contraction Source: UniProtKB
  • regulation of ion transmembrane transport Source: UniProtKB-KW

<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-419037 NCAM1 interactions
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-5576893 Phase 2 - plateau phase

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.1.11.32 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-1S
Alternative name(s):
Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle
Voltage-gated calcium channel subunit alpha Cav1.1
<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:CACNA1S
Synonyms:CACH1, CACN1, CACNL1A32 Publications
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000081248.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1397 CACNA1S

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
114208 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13698

<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 – 51CytoplasmicCuratedAdd BLAST51
<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>Transmembranei52 – 70Helical; Name=S1 of repeat IBy similarityAdd BLAST19
Topological domaini71 – 85ExtracellularCuratedAdd BLAST15
Transmembranei86 – 106Helical; Name=S2 of repeat IBy similarityAdd BLAST21
Topological domaini107 – 115CytoplasmicCurated9
Transmembranei116 – 136Helical; Name=S3 of repeat IBy similarityAdd BLAST21
Topological domaini137 – 160ExtracellularCuratedAdd BLAST24
Transmembranei161 – 179Helical; Name=S4 of repeat IBy similarityAdd BLAST19
Topological domaini180 – 196CytoplasmicCuratedAdd BLAST17
Transmembranei197 – 218Helical; Name=S5 of repeat IBy similarityAdd BLAST22
Topological domaini219 – 279ExtracellularCuratedAdd BLAST61
<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>Intramembranei280 – 301Pore-formingBy similarityAdd BLAST22
Topological domaini302 – 309ExtracellularCurated8
Transmembranei310 – 330Helical; Name=S6 of repeat IBy similarityAdd BLAST21
Topological domaini331 – 432CytoplasmicCuratedAdd BLAST102
Transmembranei433 – 451Helical; Name=S1 of repeat IIBy similarityAdd BLAST19
Topological domaini452 – 462ExtracellularCuratedAdd BLAST11
Transmembranei463 – 483Helical; Name=S2 of repeat IIBy similarityAdd BLAST21
Topological domaini484 – 494CytoplasmicCuratedAdd BLAST11
Transmembranei495 – 514Helical; Name=S3 of repeat IIBy similarityAdd BLAST20
Topological domaini515 – 523ExtracellularCurated9
Transmembranei524 – 542Helical; Name=S4 of repeat IIBy similarityAdd BLAST19
Topological domaini543 – 561CytoplasmicCuratedAdd BLAST19
Transmembranei562 – 581Helical; Name=S5 of repeat IIBy similarityAdd BLAST20
Topological domaini582 – 601ExtracellularCuratedAdd BLAST20
Intramembranei602 – 623Pore-formingBy similarityAdd BLAST22
Topological domaini624 – 633ExtracellularCurated10
Transmembranei634 – 653Helical; Name=S6 of repeat IIBy similarityAdd BLAST20
Topological domaini654 – 799CytoplasmicCuratedAdd BLAST146
Transmembranei800 – 818Helical; Name=S1 of repeat IIIBy similarityAdd BLAST19
Topological domaini819 – 830ExtracellularCuratedAdd BLAST12
Transmembranei831 – 850Helical; Name=S2 of repeat IIIBy similarityAdd BLAST20
Topological domaini851 – 866CytoplasmicCuratedAdd BLAST16
Transmembranei867 – 885Helical; Name=S3 of repeat IIIBy similarityAdd BLAST19
Topological domaini886 – 892ExtracellularCurated7
Transmembranei893 – 911Helical; Name=S4 of repeat IIIBy similarityAdd BLAST19
Topological domaini912 – 930CytoplasmicCuratedAdd BLAST19
Transmembranei931 – 950Helical; Name=S5 of repeat IIIBy similarityAdd BLAST20
Topological domaini951 – 1000ExtracellularCuratedAdd BLAST50
Intramembranei1001 – 1021Pore-formingBy similarityAdd BLAST21
Topological domaini1022 – 1038ExtracellularCuratedAdd BLAST17
Transmembranei1039 – 1060Helical; Name=S6 of repeat IIIBy similarityAdd BLAST22
Topological domaini1061 – 1118CytoplasmicCuratedAdd BLAST58
Transmembranei1119 – 1140Helical; Name=S1 of repeat IVBy similarityAdd BLAST22
Topological domaini1141 – 1148ExtracellularCurated8
Transmembranei1149 – 1170Helical; Name=S2 of repeat IVBy similarityAdd BLAST22
Topological domaini1171 – 1180CytoplasmicCurated10
Transmembranei1181 – 1200Helical; Name=S3 of repeat IVBy similarityAdd BLAST20
Topological domaini1201 – 1231ExtracellularCuratedAdd BLAST31
Transmembranei1232 – 1250Helical; Name=S4 of repeat IVBy similarityAdd BLAST19
Topological domaini1251 – 1268CytoplasmicCuratedAdd BLAST18
Transmembranei1269 – 1289Helical; Name=S5 of repeat IVBy similarityAdd BLAST21
Topological domaini1290 – 1311ExtracellularCuratedAdd BLAST22
Intramembranei1312 – 1330Pore-formingBy similarityAdd BLAST19
Topological domaini1331 – 1356ExtracellularCuratedAdd BLAST26
Transmembranei1357 – 1381Helical; Name=S6 of repeat IVBy similarityAdd BLAST25
Topological domaini1382 – 1873CytoplasmicCuratedAdd BLAST492

Keywords - Cellular componenti

Cell membrane, Membrane

<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

Periodic paralysis hypokalemic 1 (HOKPP1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.
See also OMIM:170400
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_054953528R → G in HOKPP1. 1 PublicationCorresponds to variant dbSNP:rs80338778EnsemblClinVar.1
Natural variantiVAR_001499528R → H in HOKPP1. 3 PublicationsCorresponds to variant dbSNP:rs80338777EnsemblClinVar.1
Natural variantiVAR_054954900R → S in HOKPP1. 1 Publication1
Natural variantiVAR_0015011239R → G in HOKPP1. 3 PublicationsCorresponds to variant dbSNP:rs28930069EnsemblClinVar.1
Natural variantiVAR_0015021239R → H in HOKPP1. 4 PublicationsCorresponds to variant dbSNP:rs28930068EnsemblClinVar.1
Malignant hyperthermia 5 (MHS5)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants.
See also OMIM:601887
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0015001086R → H in MHS5. 1 PublicationCorresponds to variant dbSNP:rs1800559EnsemblClinVar.1
Thyrotoxic periodic paralysis 1 (TTPP1)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease.
See also OMIM:188580

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
779

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

More...
GeneReviewsi
CACNA1S

MalaCards human disease database

More...
MalaCardsi
CACNA1S
MIMi170400 phenotype
188580 phenotype
601887 phenotype

Open Targets

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OpenTargetsi
ENSG00000081248

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

More...
Orphaneti
681 Hypokalemic periodic paralysis
423 Malignant hyperthermia of anesthesia
397755 Periodic paralysis with transient compartment-like syndrome
79102 Thyrotoxic periodic paralysis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA85

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3805

Drug and drug target database

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DrugBanki
DB00381 Amlodipine
DB00568 Cinnarizine
DB04920 Clevidipine
DB04855 Dronedarone
DB00898 Ethanol
DB01023 Felodipine
DB00270 Isradipine
DB00653 Magnesium Sulfate
DB01388 Mibefradil
DB01115 Nifedipine
DB06712 Nilvadipine
DB00393 Nimodipine
DB00401 Nisoldipine
DB01054 Nitrendipine
DB00421 Spironolactone
DB00661 Verapamil

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
528

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CACNA1S

Domain mapping of disease mutations (DMDM)

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DMDMi
209572767

<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_00000539431 – 1873Voltage-dependent L-type calcium channel subunit alpha-1SAdd BLAST1873

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>Glycosylationi79N-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 bondi226 ↔ 254By similarity
Disulfide bondi245 ↔ 261By similarity
Glycosylationi257N-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 residuei393PhosphoserineBy similarity1
Modified residuei397PhosphoserineBy similarity1
Modified residuei687Phosphoserine; by PKABy similarity1
Disulfide bondi957 ↔ 968By similarity
Glycosylationi1141N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1338 ↔ 1352By similarity
Modified residuei1392Phosphoserine; by PKASequence analysis1
Modified residuei1575PhosphoserineBy similarity1
Modified residuei1617PhosphoserineBy similarity1

<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

The alpha-1S subunit is found in two isoforms in the skeletal muscle: a minor form of 212 kDa containing the complete amino acid sequence, and a major form of 190 kDa derived from the full-length form by post-translational proteolysis close to Phe-1690.By similarity
Both the minor and major forms are phosphorylated in vitro by PKA. Phosphorylation by PKA activates the calcium channel.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

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

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PaxDbi
Q13698

PeptideAtlas

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PeptideAtlasi
Q13698

PRoteomics IDEntifications database

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PRIDEi
Q13698

ProteomicsDB human proteome resource

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ProteomicsDBi
59663

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q13698

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

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PhosphoSitePlusi
Q13698

<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

Skeletal muscle specific.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000081248 Expressed in 87 organ(s), highest expression level in muscle of leg

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13698 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13698 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB009507
HPA048892
HPA056815

<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 (CACNA1S) and the ancillary subunits CACNB1 or CACNB2, CACNG1 and CACNA2D1. The channel complex contains alpha, beta, gamma and delta subunits in a 1:1:1:1 ratio, i.e. it contains either CACNB1 or CACNB2 (By similarity). CACNA1S channel activity is modulated by the auxiliary subunits (CACNB1 or CACNB2, CACNG1 and CACNA2D1). Interacts with DYSF and JSRP1 (By similarity). Interacts with RYR1 (By similarity). Interacts with STAC, STAC2 and STAC3 (via their SH3 domains) (PubMed:29078335). Interacts with CALM (PubMed:19473981).By similarity2 Publications

<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

WithEntry#Exp.IntActNotes
PDZD3Q86UT53EBI-5329490,EBI-8744528

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107233, 4 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-3192 Skeletal muscle VGCC complex

Protein interaction database and analysis system

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IntActi
Q13698, 7 interactors

Molecular INTeraction database

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MINTi
Q13698

STRING: functional protein association networks

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STRINGi
9606.ENSP00000355192

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q13698

<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

11873
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VAYX-ray1.94B1522-1542[»]
6B27X-ray1.73G/H/I/J/K/L747-760[»]

Database of protein disorder

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DisProti
DP01103

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q13698

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

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SMRi
Q13698

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q13698

<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>Repeati38 – 337ICuratedAdd BLAST300
Repeati418 – 664IICuratedAdd BLAST247
Repeati786 – 1068IIICuratedAdd BLAST283
Repeati1105 – 1384IVCuratedAdd BLAST280

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>Regioni357 – 374Binding to the beta subunitBy similarityAdd BLAST18
Regioni747 – 760Interaction with STAC, STAC2 and STAC3 (via SH3 domains)1 PublicationAdd BLAST14
Regioni988 – 1077Dihydropyridine bindingBy similarityAdd BLAST90
Regioni1337 – 1403Dihydropyridine bindingBy similarityAdd BLAST67
Regioni1349 – 1391Phenylalkylamine bindingBy similarityAdd BLAST43
Regioni1522 – 1542Interaction with calmodulin1 PublicationAdd BLAST21

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>Motifi290 – 293Selectivity filter of repeat IBy similarity4
Motifi612 – 615Selectivity filter of repeat IIBy similarity4
Motifi1012 – 1015Selectivity filter of repeat IIIBy similarity4
Motifi1321 – 1324Selectivity 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 biasi562 – 568Poly-Leu7

<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.By similarity
The loop between repeats II and III interacts with the ryanodine receptor, and is therefore important for calcium release from the endoplasmic reticulum necessary for muscle contraction.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

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
ENSGT00940000158289

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231529

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG050763

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q13698

KEGG Orthology (KO)

More...
KOi
K04857

Identification of Orthologs from Complete Genome Data

More...
OMAi
EDMGPIY

Database of Orthologous Groups

More...
OrthoDBi
1016088at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q13698

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, 4 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR031649 GPHH_dom
IPR005821 Ion_trans_dom
IPR014873 VDCC_a1su_IQ
IPR005450 VDCC_L_a1ssu
IPR005446 VDCC_L_a1su
IPR002077 VDCCAlpha1
IPR027359 Volt_channel_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR10037:SF190 PTHR10037:SF190, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08763 Ca_chan_IQ, 1 hit
PF16905 GPHH, 1 hit
PF00520 Ion_trans, 4 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00167 CACHANNEL
PR01630 LVDCCALPHA1
PR01634 LVDCCALPHA1S

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>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q13698-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEPSSPQDEG LRKKQPKKPV PEILPRPPRA LFCLTLENPL RKACISIVEW
60 70 80 90 100
KPFETIILLT IFANCVALAV YLPMPEDDNN SLNLGLEKLE YFFLIVFSIE
110 120 130 140 150
AAMKIIAYGF LFHQDAYLRS GWNVLDFTIV FLGVFTVILE QVNVIQSHTA
160 170 180 190 200
PMSSKGAGLD VKALRAFRVL RPLRLVSGVP SLQVVLNSIF KAMLPLFHIA
210 220 230 240 250
LLVLFMVIIY AIIGLELFKG KMHKTCYFIG TDIVATVENE EPSPCARTGS
260 270 280 290 300
GRRCTINGSE CRGGWPGPNH GITHFDNFGF SMLTVYQCIT MEGWTDVLYW
310 320 330 340 350
VNDAIGNEWP WIYFVTLILL GSFFILNLVL GVLSGEFTKE REKAKSRGTF
360 370 380 390 400
QKLREKQQLD EDLRGYMSWI TQGEVMDVED FREGKLSLDE GGSDTESLYE
410 420 430 440 450
IAGLNKIIQF IRHWRQWNRI FRWKCHDIVK SKVFYWLVIL IVALNTLSIA
460 470 480 490 500
SEHHNQPLWL TRLQDIANRV LLSLFTTEML MKMYGLGLRQ YFMSIFNRFD
510 520 530 540 550
CFVVCSGILE ILLVESGAMT PLGISVLRCI RLLRIFKITK YWTSLSNLVA
560 570 580 590 600
SLLNSIRSIA SLLLLLFLFI VIFALLGMQL FGGRYDFEDT EVRRSNFDNF
610 620 630 640 650
PQALISVFQV LTGEDWTSMM YNGIMAYGGP SYPGMLVCIY FIILFVCGNY
660 670 680 690 700
ILLNVFLAIA VDNLAEAESL TSAQKAKAEE KKRRKMSKGL PDKSEEEKST
710 720 730 740 750
MAKKLEQKPK GEGIPTTAKL KIDEFESNVN EVKDPYPSAD FPGDDEEDEP
760 770 780 790 800
EIPLSPRPRP LAELQLKEKA VPIPEASSFF IFSPTNKIRV LCHRIVNATW
810 820 830 840 850
FTNFILLFIL LSSAALAAED PIRADSMRNQ ILKHFDIGFT SVFTVEIVLK
860 870 880 890 900
MTTYGAFLHK GSFCRNYFNM LDLLVVAVSL ISMGLESSAI SVVKILRVLR
910 920 930 940 950
VLRPLRAINR AKGLKHVVQC MFVAISTIGN IVLVTTLLQF MFACIGVQLF
960 970 980 990 1000
KGKFFRCTDL SKMTEEECRG YYYVYKDGDP MQIELRHREW VHSDFHFDNV
1010 1020 1030 1040 1050
LSAMMSLFTV STFEGWPQLL YKAIDSNAED VGPIYNNRVE MAIFFIIYII
1060 1070 1080 1090 1100
LIAFFMMNIF VGFVIVTFQE QGETEYKNCE LDKNQRQCVQ YALKARPLRC
1110 1120 1130 1140 1150
YIPKNPYQYQ VWYIVTSSYF EYLMFALIML NTICLGMQHY NQSEQMNHIS
1160 1170 1180 1190 1200
DILNVAFTII FTLEMILKLM AFKARGYFGD PWNVFDFLIV IGSIIDVILS
1210 1220 1230 1240 1250
EIDTFLASSG GLYCLGGGCG NVDPDESARI SSAFFRLFRV MRLIKLLSRA
1260 1270 1280 1290 1300
EGVRTLLWTF IKSFQALPYV ALLIVMLFFI YAVIGMQMFG KIALVDGTQI
1310 1320 1330 1340 1350
NRNNNFQTFP QAVLLLFRCA TGEAWQEILL ACSYGKLCDP ESDYAPGEEY
1360 1370 1380 1390 1400
TCGTNFAYYY FISFYMLCAF LVINLFVAVI MDNFDYLTRD WSILGPHHLD
1410 1420 1430 1440 1450
EFKAIWAEYD PEAKGRIKHL DVVTLLRRIQ PPLGFGKFCP HRVACKRLVG
1460 1470 1480 1490 1500
MNMPLNSDGT VTFNATLFAL VRTALKIKTE GNFEQANEEL RAIIKKIWKR
1510 1520 1530 1540 1550
TSMKLLDQVI PPIGDDEVTV GKFYATFLIQ EHFRKFMKRQ EEYYGYRPKK
1560 1570 1580 1590 1600
DIVQIQAGLR TIEEEAAPEI CRTVSGDLAA EEELERAMVE AAMEEGIFRR
1610 1620 1630 1640 1650
TGGLFGQVDN FLERTNSLPP VMANQRPLQF AEIEMEEMES PVFLEDFPQD
1660 1670 1680 1690 1700
PRTNPLARAN TNNANANVAY GNSNHSNSHV FSSVHYEREF PEETETPATR
1710 1720 1730 1740 1750
GRALGQPCRV LGPHSKPCVE MLKGLLTQRA MPRGQAPPAP CQCPRVESSM
1760 1770 1780 1790 1800
PEDRKSSTPG SLHEETPHSR STRENTSRCS APATALLIQK ALVRGGLGTL
1810 1820 1830 1840 1850
AADANFIMAT GQALADACQM EPEEVEIMAT ELLKGREAPE GMASSLGCLN
1860 1870
LGSSLGSLDQ HQGSQETLIP PRL
Length:1,873
Mass (Da):212,350
Last modified:October 14, 2008 - 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:i7B7446727E578913
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1ALM3B1ALM3_HUMAN
Voltage-dependent L-type calcium ch...
CACNA1S
1,854Annotation 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>

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 conflicti26R → S in AAB37235 (PubMed:8838325).Curated1
Sequence conflicti265W → C in AAA51902 (PubMed:7713519).Curated1
Sequence conflicti265W → C in AAB37235 (PubMed:8838325).Curated1
Sequence conflicti574A → R in AAA51902 (PubMed:7713519).Curated1
Sequence conflicti574A → R in AAB37235 (PubMed:8838325).Curated1
Sequence conflicti627 – 628YG → SS in AAA51902 (PubMed:7713519).Curated2
Sequence conflicti628G → R in AAB37235 (PubMed:8838325).Curated1
Sequence conflicti916 – 919Missing in AAB37235 (PubMed:8838325).Curated4
Sequence conflicti918 – 919VQ → AR in AAA51902 (PubMed:7713519).Curated2
Sequence conflicti1180D → N in AAA51902 (PubMed:7713519).Curated1
Sequence conflicti1180D → N in AAB37235 (PubMed:8838325).Curated1
Sequence conflicti1294 – 1295LV → FE in AAA20531 (PubMed:8004673).Curated2
Sequence conflicti1318R → RHA in AAB37235 (PubMed:8838325).Curated1
Sequence conflicti1472R → G in AAB37235 (PubMed:8838325).Curated1
Sequence conflicti1510I → M in AAB37235 (PubMed:8838325).Curated1
Sequence conflicti1532H → D in AAB37235 (PubMed:8838325).Curated1
Sequence conflicti1671G → A in AAA51902 (PubMed:7713519).Curated1
Sequence conflicti1671G → A in AAB37235 (PubMed:8838325).Curated1
Sequence conflicti1710V → S in AAA51902 (PubMed:7713519).Curated1
Sequence conflicti1815A → G in AAA51902 (PubMed:7713519).Curated1
Sequence conflicti1815A → G in AAB37235 (PubMed:8838325).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04697069A → G. Corresponds to variant dbSNP:rs12406479EnsemblClinVar.1
Natural variantiVAR_001498458L → H2 PublicationsCorresponds to variant dbSNP:rs12742169EnsemblClinVar.1
Natural variantiVAR_054953528R → G in HOKPP1. 1 PublicationCorresponds to variant dbSNP:rs80338778EnsemblClinVar.1
Natural variantiVAR_001499528R → H in HOKPP1. 3 PublicationsCorresponds to variant dbSNP:rs80338777EnsemblClinVar.1
Natural variantiVAR_054954900R → S in HOKPP1. 1 Publication1
Natural variantiVAR_0015001086R → H in MHS5. 1 PublicationCorresponds to variant dbSNP:rs1800559EnsemblClinVar.1
Natural variantiVAR_0015011239R → G in HOKPP1. 3 PublicationsCorresponds to variant dbSNP:rs28930069EnsemblClinVar.1
Natural variantiVAR_0015021239R → H in HOKPP1. 4 PublicationsCorresponds to variant dbSNP:rs28930068EnsemblClinVar.1
Natural variantiVAR_0015031539R → C1 PublicationCorresponds to variant dbSNP:rs3850625EnsemblClinVar.1
Natural variantiVAR_0469711658R → H. Corresponds to variant dbSNP:rs13374149EnsemblClinVar.1
Natural variantiVAR_0469721800L → S1 PublicationCorresponds to variant dbSNP:rs12139527EnsemblClinVar.1
Natural variantiVAR_0469731840E → D2 PublicationsCorresponds to variant dbSNP:rs1042379Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L33798 mRNA Translation: AAA51902.1
U30707
, U30666, U30667, U30668, U30669, U30670, U30671, U30672, U30673, U30674, U30675, U30676, U30677, U30678, U30679, U30680, U30681, U30682, U30683, U30684, U30685, U30686, U30687, U30688, U30689, U30690, U30691, U30692, U30693, U30694, U30695, U30696, U30697, U30698, U30699, U30700, U30701, U30702, U30703, U30704, U30705, U30706 Genomic DNA Translation: AAB37235.1
AL358473 Genomic DNA No translation available.
AL139159 Genomic DNA No translation available.
BC133671 mRNA Translation: AAI33672.1
M87486 Genomic DNA No translation available.
M87487 Genomic DNA No translation available.
M87488 Genomic DNA No translation available.
U09784 mRNA Translation: AAA20531.1
Z50091 Genomic DNA No translation available.
Z50092 Genomic DNA No translation available.
Z50093 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1407.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A55645
I38611

NCBI Reference Sequences

More...
RefSeqi
NP_000060.2, NM_000069.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.1294

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000362061; ENSP00000355192; ENSG00000081248

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
779

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:779

UCSC genome browser

More...
UCSCi
uc001gvv.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L33798 mRNA Translation: AAA51902.1
U30707
, U30666, U30667, U30668, U30669, U30670, U30671, U30672, U30673, U30674, U30675, U30676, U30677, U30678, U30679, U30680, U30681, U30682, U30683, U30684, U30685, U30686, U30687, U30688, U30689, U30690, U30691, U30692, U30693, U30694, U30695, U30696, U30697, U30698, U30699, U30700, U30701, U30702, U30703, U30704, U30705, U30706 Genomic DNA Translation: AAB37235.1
AL358473 Genomic DNA No translation available.
AL139159 Genomic DNA No translation available.
BC133671 mRNA Translation: AAI33672.1
M87486 Genomic DNA No translation available.
M87487 Genomic DNA No translation available.
M87488 Genomic DNA No translation available.
U09784 mRNA Translation: AAA20531.1
Z50091 Genomic DNA No translation available.
Z50092 Genomic DNA No translation available.
Z50093 Genomic DNA No translation available.
CCDSiCCDS1407.1
PIRiA55645
I38611
RefSeqiNP_000060.2, NM_000069.2
UniGeneiHs.1294

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VAYX-ray1.94B1522-1542[»]
6B27X-ray1.73G/H/I/J/K/L747-760[»]
DisProtiDP01103
ProteinModelPortaliQ13698
SMRiQ13698
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107233, 4 interactors
ComplexPortaliCPX-3192 Skeletal muscle VGCC complex
IntActiQ13698, 7 interactors
MINTiQ13698
STRINGi9606.ENSP00000355192

Chemistry databases

BindingDBiQ13698
ChEMBLiCHEMBL3805
DrugBankiDB00381 Amlodipine
DB00568 Cinnarizine
DB04920 Clevidipine
DB04855 Dronedarone
DB00898 Ethanol
DB01023 Felodipine
DB00270 Isradipine
DB00653 Magnesium Sulfate
DB01388 Mibefradil
DB01115 Nifedipine
DB06712 Nilvadipine
DB00393 Nimodipine
DB00401 Nisoldipine
DB01054 Nitrendipine
DB00421 Spironolactone
DB00661 Verapamil
GuidetoPHARMACOLOGYi528

Protein family/group databases

TCDBi1.A.1.11.32 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiQ13698
PhosphoSitePlusiQ13698

Polymorphism and mutation databases

BioMutaiCACNA1S
DMDMi209572767

Proteomic databases

PaxDbiQ13698
PeptideAtlasiQ13698
PRIDEiQ13698
ProteomicsDBi59663

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000362061; ENSP00000355192; ENSG00000081248
GeneIDi779
KEGGihsa:779
UCSCiuc001gvv.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
779
DisGeNETi779
EuPathDBiHostDB:ENSG00000081248.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CACNA1S
GeneReviewsiCACNA1S

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0028855
HGNCiHGNC:1397 CACNA1S
HPAiCAB009507
HPA048892
HPA056815
MalaCardsiCACNA1S
MIMi114208 gene
170400 phenotype
188580 phenotype
601887 phenotype
neXtProtiNX_Q13698
OpenTargetsiENSG00000081248
Orphaneti681 Hypokalemic periodic paralysis
423 Malignant hyperthermia of anesthesia
397755 Periodic paralysis with transient compartment-like syndrome
79102 Thyrotoxic periodic paralysis
PharmGKBiPA85

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2301 Eukaryota
ENOG410XNP6 LUCA
GeneTreeiENSGT00940000158289
HOGENOMiHOG000231529
HOVERGENiHBG050763
InParanoidiQ13698
KOiK04857
OMAiEDMGPIY
OrthoDBi1016088at2759
PhylomeDBiQ13698
TreeFamiTF312805

Enzyme and pathway databases

ReactomeiR-HSA-419037 NCAM1 interactions
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-5576893 Phase 2 - plateau phase

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CACNA1S human
EvolutionaryTraceiQ13698

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Cav1.1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
779

Protein Ontology

More...
PROi
PR:Q13698

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000081248 Expressed in 87 organ(s), highest expression level in muscle of leg
ExpressionAtlasiQ13698 baseline and differential
GenevisibleiQ13698 HS

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR031649 GPHH_dom
IPR005821 Ion_trans_dom
IPR014873 VDCC_a1su_IQ
IPR005450 VDCC_L_a1ssu
IPR005446 VDCC_L_a1su
IPR002077 VDCCAlpha1
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR10037:SF190 PTHR10037:SF190, 1 hit
PfamiView protein in Pfam
PF08763 Ca_chan_IQ, 1 hit
PF16905 GPHH, 1 hit
PF00520 Ion_trans, 4 hits
PRINTSiPR00167 CACHANNEL
PR01630 LVDCCALPHA1
PR01634 LVDCCALPHA1S
SMARTiView protein in SMART
SM01062 Ca_chan_IQ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCAC1S_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13698
Secondary accession number(s): A4IF51
, B1ALM2, Q12896, Q13934
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 14, 2008
Last modified: February 13, 2019
This is version 198 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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