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UniProtKB - O95180 (CAC1H_HUMAN)

Entry version 191 (12 Aug 2020)
Sequence version 4 (19 Sep 2002)
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Protein

Voltage-dependent T-type calcium channel subunit alpha-1H

Gene

CACNA1H

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

Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation (PubMed:9670923, PubMed:9930755, PubMed:27149520). T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons (PubMed:15048902). In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216).Curated6 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 strongly inhibited by mibefradil (PubMed:9670923, PubMed:9930755). Channel activity is strongly inhibited by Ni2+ ions (PubMed:9930755).2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 bindingi140Zinc1
Metal bindingi189Zinc1
Metal bindingi191Zinc1
<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>Sitei378Calcium ion selectivity and permeabilityBy similarity1
Sitei974Calcium ion selectivity and permeabilityBy similarity1
Sitei1504Calcium ion selectivity and permeabilityBy similarity1
Sitei1808Calcium ion selectivity and permeabilityBy similarity1

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

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, Ion channel, Voltage-gated channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium, Metal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O95180

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-419037, NCAM1 interactions

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.1.11.5, 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%5Fand%5Ftaxonomy%5Fsection">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 T-type calcium channel subunit alpha-1H
Alternative name(s):
Low-voltage-activated calcium channel alpha1 3.2 subunit
Voltage-gated calcium channel subunit alpha Cav3.2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CACNA1HImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000196557.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:1395, CACNA1H

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607904, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O95180

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 100CytoplasmicSequence analysisAdd BLAST100
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei101 – 119Helical; Name=S1 of repeat ISequence analysisAdd BLAST19
Topological domaini120 – 141ExtracellularSequence analysisAdd BLAST22
Transmembranei142 – 160Helical; Name=S2 of repeat ISequence analysisAdd BLAST19
Topological domaini161 – 169CytoplasmicSequence analysis9
Transmembranei170 – 184Helical; Name=S3 of repeat ISequence analysisAdd BLAST15
Topological domaini185 – 193ExtracellularSequence analysis9
Transmembranei194 – 212Helical; Name=S4 of repeat ISequence analysisAdd BLAST19
Topological domaini213 – 232CytoplasmicSequence analysisAdd BLAST20
Transmembranei233 – 253Helical; Name=S5 of repeat ISequence analysisAdd BLAST21
Topological domaini254 – 394ExtracellularSequence analysisAdd BLAST141
Transmembranei395 – 419Helical; Name=S6 of repeat ISequence analysisAdd BLAST25
Topological domaini420 – 793CytoplasmicSequence analysisAdd BLAST374
Transmembranei794 – 814Helical; Name=S1 of repeat IISequence analysisAdd BLAST21
Topological domaini815 – 827ExtracellularSequence analysisAdd BLAST13
Transmembranei828 – 849Helical; Name=S2 of repeat IISequence analysisAdd BLAST22
Topological domaini850 – 855CytoplasmicSequence analysis6
Transmembranei856 – 874Helical; Name=S3 of repeat IISequence analysisAdd BLAST19
Topological domaini875 – 882ExtracellularSequence analysis8
Transmembranei883 – 906Helical; Name=S4 of repeat IISequence analysisAdd BLAST24
Topological domaini907 – 917CytoplasmicSequence analysisAdd BLAST11
Transmembranei918 – 938Helical; Name=S5 of repeat IISequence analysisAdd BLAST21
Topological domaini939 – 990ExtracellularSequence analysisAdd BLAST52
Transmembranei991 – 1015Helical; Name=S6 of repeat IISequence analysisAdd BLAST25
Topological domaini1016 – 1290CytoplasmicSequence analysisAdd BLAST275
Transmembranei1291 – 1313Helical; Name=S1 of repeat IIISequence analysisAdd BLAST23
Topological domaini1314 – 1331ExtracellularSequence analysisAdd BLAST18
Transmembranei1332 – 1352Helical; Name=S2 of repeat IIISequence analysisAdd BLAST21
Topological domaini1353 – 1362CytoplasmicSequence analysis10
Transmembranei1363 – 1382Helical; Name=S3 of repeat IIISequence analysisAdd BLAST20
Topological domaini1383 – 1396ExtracellularSequence analysisAdd BLAST14
Transmembranei1397 – 1418Helical; Name=S4 of repeat IIISequence analysisAdd BLAST22
Topological domaini1419 – 1428CytoplasmicSequence analysis10
Transmembranei1429 – 1452Helical; Name=S5 of repeat IIISequence analysisAdd BLAST24
Topological domaini1453 – 1529ExtracellularSequence analysisAdd BLAST77
Transmembranei1530 – 1555Helical; Name=S6 of repeat IIISequence analysisAdd BLAST26
Topological domaini1556 – 1616CytoplasmicSequence analysisAdd BLAST61
Transmembranei1617 – 1637Helical; Name=S1 of repeat IVSequence analysisAdd BLAST21
Topological domaini1638 – 1651ExtracellularSequence analysisAdd BLAST14
Transmembranei1652 – 1673Helical; Name=S2 of repeat IVSequence analysisAdd BLAST22
Topological domaini1674 – 1680CytoplasmicSequence analysis7
Transmembranei1681 – 1699Helical; Name=S3 of repeat IVSequence analysisAdd BLAST19
Topological domaini1700 – 1713ExtracellularSequence analysisAdd BLAST14
Transmembranei1714 – 1737Helical; Name=S4 of repeat IVSequence analysisAdd BLAST24
Topological domaini1738 – 1751CytoplasmicSequence analysisAdd BLAST14
Transmembranei1752 – 1772Helical; Name=S5 of repeat IVSequence analysisAdd BLAST21
Topological domaini1773 – 1835ExtracellularSequence analysisAdd BLAST63
Transmembranei1836 – 1863Helical; Name=S6 of repeat IVSequence analysisAdd BLAST28
Topological domaini1864 – 2353CytoplasmicSequence analysisAdd BLAST490

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

Epilepsy, idiopathic generalized 6 (EIG6)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.
Related information in OMIM
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_066986618P → L in EIG6. 1 PublicationCorresponds to variant dbSNP:rs60734921EnsemblClinVar.1
Natural variantiVAR_066987755G → D in EIG6. 1 PublicationCorresponds to variant dbSNP:rs142306293EnsemblClinVar.1
Epilepsy, childhood absence 6 (ECA6)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_045935161F → L in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454947EnsemblClinVar.1
Natural variantiVAR_045936282E → K in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454948EnsemblClinVar.1
Natural variantiVAR_045938456C → S in ECA6; results in increased T-current amplitude and lower threshold for spikes generation; results in increased neuronal excitability. 2 Publications1
Natural variantiVAR_045939499G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs560915333Ensembl.1
Natural variantiVAR_045941648P → L in ECA6; creates a dileucine internalization motif that promotes recruitment of clathrin. 2 PublicationsCorresponds to variant dbSNP:rs1288484976Ensembl.1
Natural variantiVAR_045944744R → Q in ECA6. 1 PublicationCorresponds to variant dbSNP:rs373764821Ensembl.1
Natural variantiVAR_045945748A → V in ECA6. 1 PublicationCorresponds to variant dbSNP:rs770371468Ensembl.1
Natural variantiVAR_045946773G → D in ECA6. 1 PublicationCorresponds to variant dbSNP:rs267606697EnsemblClinVar.1
Natural variantiVAR_045947784G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs779526640Ensembl.1
Natural variantiVAR_045950831V → M in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454949EnsemblClinVar.1
Natural variantiVAR_045951848G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs374272094EnsemblClinVar.1
Natural variantiVAR_0459521463D → N in ECA6. 1 PublicationCorresponds to variant dbSNP:rs542245543Ensembl.1
Hyperaldosteronism, familial, 4 (HALD4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of familial hyperaldosteronism, a disorder characterized by hypertension, elevated aldosterone levels despite low plasma renin activity, and abnormal adrenal steroid production. There is significant phenotypic heterogeneity, and some individuals never develop hypertension.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077064196S → L in HALD4; changed calcium channel activity; increased aldosterone production in response to potassium ion stimulation; increased expression of genes involved in aldosterone biosynthesis, with the strongest effect observed on CYP11B2 expression in response to potassium ion stimulation. 1 PublicationCorresponds to variant dbSNP:rs780596901Ensembl.1
Natural variantiVAR_0770651549M → I in HALD4; changed calcium channel activity; increased aldosterone production in response to potassium ion stimulation; increased expression of genes involved in aldosterone biosynthesis, with the strongest effect observed on CYP11B2 expression in response to potassium ion stimulation. 1 Publication1
Natural variantiVAR_0770661549M → V in HALD4; changed calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs786205050EnsemblClinVar.1
Natural variantiVAR_0770682083P → L in HALD4; changed calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs759924732Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		8912

MalaCards human disease database

More...MalaCardsi		CACNA1H
MIMi611942, phenotype
617027, phenotype

Open Targets

More...OpenTargetsi		ENSG00000196557

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

More...Orphaneti		64280, Childhood absence epilepsy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA380

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O95180, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1859

Drug and drug target database

More...DrugBanki		DB09231, Benidipine
DB01244, Bepridil
DB13746, Bioallethrin
DB11148, Butamben
DB11093, Calcium citrate
DB11348, Calcium Phosphate
DB14481, Calcium phosphate dihydrate
DB09061, Cannabidiol
DB00568, Cinnarizine
DB00153, Ergocalciferol
DB01023, Felodipine
DB04841, Flunarizine
DB00270, Isradipine
DB09238, Manidipine
DB14009, Medical Cannabis
DB01388, Mibefradil
DB14011, Nabiximols
DB01115, Nifedipine
DB01054, Nitrendipine
DB00421, Spironolactone
DB09089, Trimebutine
DB00661, Verapamil
DB00909, Zonisamide

DrugCentral

More...DrugCentrali		O95180

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		536

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CACNA1H

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000539541 – 2353Voltage-dependent T-type calcium channel subunit alpha-1HAdd BLAST2353

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi192N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi271N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1466N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O95180

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O95180

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

More...PaxDbi		O95180

PeptideAtlas

More...PeptideAtlasi		O95180

PRoteomics IDEntifications database

More...PRIDEi		O95180

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		50690 [O95180-1]
50691 [O95180-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O95180, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O95180

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

More...PhosphoSitePlusi		O95180

<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

In nonneuronal tissues, the highest expression levels are found in the kidney, liver, and heart. In the brain, most abundant in the amygdala, caudate nucleus, and putamen (PubMed:9670923, PubMed:9930755). In the heart, expressed in blood vessels. Isoform 1 and isoform 2 are expressed in testis, primarily in the germ cells, but not in other portions of the reproductive tract, such as ductus deferens. Isoform 2 is not detected in brain (PubMed:11751928). Expressed in the adrenal glomerulosa (at protein level) (PubMed:25907736, PubMed:27729216).5 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000196557, Expressed in lower esophagus muscularis layer and 119 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O95180, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O95180, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000196557, Tissue enhanced (smooth)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via N-terminal cytoplasmic domain) with STAC.

1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114426, 7 interactors

Protein interaction database and analysis system

More...IntActi		O95180, 5 interactors

Molecular INTeraction database

More...MINTi		O95180

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000334198

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O95180

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O95180, protein

<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>Repeati87 – 422IAdd BLAST336
Repeati779 – 1018IIAdd BLAST240
Repeati1281 – 1558IIIAdd BLAST278
Repeati1602 – 1863IVAdd BLAST262

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 biasi520 – 530Poly-HisAdd BLAST11
Compositional biasi1107 – 1110Poly-Ser4
Compositional biasi1583 – 1586Poly-Arg4

<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.

<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. CACNA1H subfamily. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2302, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156666

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000540_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O95180

KEGG Orthology (KO)

More...KOi		K04855

Identification of Orthologs from Complete Genome Data

More...OMAi		RPIHNLL

Database of Orthologous Groups

More...OrthoDBi		172471at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O95180

TreeFam database of animal gene trees

More...TreeFami		TF313555

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
IPR005821, Ion_trans_dom
IPR005445, VDCC_T_a1
IPR043203, VGCC_Ca_Na
IPR027359, Volt_channel_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR10037, PTHR10037, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00520, Ion_trans, 4 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01629, TVDCCALPHA1

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O95180-1) [UniParc]FASTAAdd to basket
Also known as: A1H-a

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MTEGARAADE VRVPLGAPPP GPAALVGASP ESPGAPGREA ERGSELGVSP 
        60         70         80         90        100
SESPAAERGA ELGADEEQRV PYPALAATVF FCLGQTTRPR SWCLRLVCNP 
       110        120        130        140        150
WFEHVSMLVI MLNCVTLGMF RPCEDVECGS ERCNILEAFD AFIFAFFAVE 
       160        170        180        190        200
MVIKMVALGL FGQKCYLGDT WNRLDFFIVV AGMMEYSLDG HNVSLSAIRT 
       210        220        230        240        250
VRVLRPLRAI NRVPSMRILV TLLLDTLPML GNVLLLCFFV FFIFGIVGVQ 
       260        270        280        290        300
LWAGLLRNRC FLDSAFVRNN NLTFLRPYYQ TEEGEENPFI CSSRRDNGMQ 
       310        320        330        340        350
KCSHIPGRRE LRMPCTLGWE AYTQPQAEGV GAARNACINW NQYYNVCRSG 
       360        370        380        390        400
DSNPHNGAIN FDNIGYAWIA IFQVITLEGW VDIMYYVMDA HSFYNFIYFI 
       410        420        430        440        450
LLIIVGSFFM INLCLVVIAT QFSETKQRES QLMREQRARH LSNDSTLASF 
       460        470        480        490        500
SEPGSCYEEL LKYVGHIFRK VKRRSLRLYA RWQSRWRKKV DPSAVQGQGP 
       510        520        530        540        550
GHRQRRAGRH TASVHHLVYH HHHHHHHHYH FSHGSPRRPG PEPGACDTRL 
       560        570        580        590        600
VRAGAPPSPP SPGRGPPDAE SVHSIYHADC HIEGPQERAR VAHAAATAAA 
       610        620        630        640        650
SLRLATGLGT MNYPTILPSG VGSGKGSTSP GPKGKWAGGP PGTGGHGPLS 
       660        670        680        690        700
LNSPDPYEKI PHVVGEHGLG QAPGHLSGLS VPCPLPSPPA GTLTCELKSC 
       710        720        730        740        750
PYCTRALEDP EGELSGSESG DSDGRGVYEF TQDVRHGDRW DPTRPPRATD 
       760        770        780        790        800
TPGPGPGSPQ RRAQQRAAPG EPGWMGRLWV TFSGKLRRIV DSKYFSRGIM 
       810        820        830        840        850
MAILVNTLSM GVEYHEQPEE LTNALEISNI VFTSMFALEM LLKLLACGPL 
       860        870        880        890        900
GYIRNPYNIF DGIIVVISVW EIVGQADGGL SVLRTFRLLR VLKLVRFLPA 
       910        920        930        940        950
LRRQLVVLVK TMDNVATFCT LLMLFIFIFS ILGMHLFGCK FSLKTDTGDT 
       960        970        980        990       1000
VPDRKNFDSL LWAIVTVFQI LTQEDWNVVL YNGMASTSSW AALYFVALMT 
      1010       1020       1030       1040       1050
FGNYVLFNLL VAILVEGFQA EGDANRSDTD EDKTSVHFEE DFHKLRELQT 
      1060       1070       1080       1090       1100
TELKMCSLAV TPNGHLEGRG SLSPPLIMCT AATPMPTPKS SPFLDAAPSL 
      1110       1120       1130       1140       1150
PDSRRGSSSS GDPPLGDQKP PASLRSSPCA PWGPSGAWSS RRSSWSSLGR 
      1160       1170       1180       1190       1200
APSLKRRGQC GERESLLSGE GKGSTDDEAE DGRAAPGPRA TPLRRAESLD 
      1210       1220       1230       1240       1250
PRPLRPAALP PTKCRDRDGQ VVALPSDFFL RIDSHREDAA ELDDDSEDSC 
      1260       1270       1280       1290       1300
CLRLHKVLEP YKPQWCRSRE AWALYLFSPQ NRFRVSCQKV ITHKMFDHVV 
      1310       1320       1330       1340       1350
LVFIFLNCVT IALERPDIDP GSTERVFLSV SNYIFTAIFV AEMMVKVVAL 
      1360       1370       1380       1390       1400
GLLSGEHAYL QSSWNLLDGL LVLVSLVDIV VAMASAGGAK ILGVLRVLRL 
      1410       1420       1430       1440       1450
LRTLRPLRVI SRAPGLKLVV ETLISSLRPI GNIVLICCAF FIIFGILGVQ 
      1460       1470       1480       1490       1500
LFKGKFYYCE GPDTRNISTK AQCRAAHYRW VRRKYNFDNL GQALMSLFVL 
      1510       1520       1530       1540       1550
SSKDGWVNIM YDGLDAVGVD QQPVQNHNPW MLLYFISFLL IVSFFVLNMF 
      1560       1570       1580       1590       1600
VGVVVENFHK CRQHQEAEEA RRREEKRLRR LERRRRSTFP SPEAQRRPYY 
      1610       1620       1630       1640       1650
ADYSPTRRSI HSLCTSHYLD LFITFIICVN VITMSMEHYN QPKSLDEALK 
      1660       1670       1680       1690       1700
YCNYVFTIVF VFEAALKLVA FGFRRFFKDR WNQLDLAIVL LSLMGITLEE 
      1710       1720       1730       1740       1750
IEMSAALPIN PTIIRIMRVL RIARVLKLLK MATGMRALLD TVVQALPQVG 
      1760       1770       1780       1790       1800
NLGLLFMLLF FIYAALGVEL FGRLECSEDN PCEGLSRHAT FSNFGMAFLT 
      1810       1820       1830       1840       1850
LFRVSTGDNW NGIMKDTLRE CSREDKHCLS YLPALSPVYF VTFVLVAQFV 
      1860       1870       1880       1890       1900
LVNVVVAVLM KHLEESNKEA REDAELDAEI ELEMAQGPGS ARRVDADRPP 
      1910       1920       1930       1940       1950
LPQESPGARD APNLVARKVS VSRMLSLPND SYMFRPVVPA SAPHPRPLQE 
      1960       1970       1980       1990       2000
VEMETYGAGT PLGSVASVHS PPAESCASLQ IPLAVSSPAR SGEPLHALSP 
      2010       2020       2030       2040       2050
RGTARSPSLS RLLCRQEAVH TDSLEGKIDS PRDTLDPAEP GEKTPVRPVT 
      2060       2070       2080       2090       2100
QGGSLQSPPR SPRPASVRTR KHTFGQRCVS SRPAAPGGEE AEASDPADEE 
      2110       2120       2130       2140       2150
VSHITSSACP WQPTAEPHGP EASPVAGGER DLRRLYSVDA QGFLDKPGRA 
      2160       2170       2180       2190       2200
DEQWRPSAEL GSGEPGEAKA WGPEAEPALG ARRKKKMSPP CISVEPPAED 
      2210       2220       2230       2240       2250
EGSARPSAAE GGSTTLRRRT PSCEATPHRD SLEPTEGSGA GGDPAAKGER 
      2260       2270       2280       2290       2300
WGQASCRAEH LTVPSFAFEP LDLGVPSGDP FLDGSHSVTP ESRASSSGAI 
      2310       2320       2330       2340       2350
VPLEPPESEP PMPVGDPPEK RRGLYLTVPQ CPLEKPGSPS ATPAPGGGAD 

DPV
Length:2,353
Mass (Da):259,163
Last modified:September 19, 2002 - 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:iE13E270635173D98
GO
Isoform 2 (identifier: O95180-2) [UniParc]FASTAAdd to basket
Also known as: A1H-b

The sequence of this isoform differs from the canonical sequence as follows:
     1587-1593: STFPSPE → K

Show »
Length:2,347
Mass (Da):258,545
Checksum:i92C26CC4852C3E0A
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BMW6H3BMW6_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
1,078Annotation 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>
H3BNT0H3BNT0_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
1,100Annotation 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>
H3BUA8H3BUA8_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
1,084Annotation 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>
A0A1W2PR14A0A1W2PR14_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
2,340Annotation 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>
A0A1W2PQW2A0A1W2PQW2_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
1,618Annotation 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>
A0A1W2PQ19A0A1W2PQ19_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
489Annotation 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>
A0A1W2PS38A0A1W2PS38_HUMAN
Voltage-dependent T-type calcium ch...
CACNA1H
130Annotation 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 AAK61268 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAC42094 differs from that shown. Reason: Erroneous gene model prediction.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 conflicti7A → S in AC120498 (PubMed:11157797).Curated1
Sequence conflicti31E → K in AC120498 (PubMed:11157797).Curated1
Sequence conflicti55A → S in AC120498 (PubMed:11157797).Curated1
Sequence conflicti94L → V in AC120498 (PubMed:11157797).Curated1
Sequence conflicti215S → T in CAC42094 (PubMed:15616553).Curated1
Isoform 2 (identifier: O95180-2)
Sequence conflicti1587K → E in CAD12646 (PubMed:11751928).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_045935161F → L in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454947EnsemblClinVar.1
Natural variantiVAR_077064196S → L in HALD4; changed calcium channel activity; increased aldosterone production in response to potassium ion stimulation; increased expression of genes involved in aldosterone biosynthesis, with the strongest effect observed on CYP11B2 expression in response to potassium ion stimulation. 1 PublicationCorresponds to variant dbSNP:rs780596901Ensembl.1
Natural variantiVAR_045936282E → K in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454948EnsemblClinVar.1
Natural variantiVAR_045937313M → V3 PublicationsCorresponds to variant dbSNP:rs36117280EnsemblClinVar.1
Natural variantiVAR_045938456C → S in ECA6; results in increased T-current amplitude and lower threshold for spikes generation; results in increased neuronal excitability. 2 Publications1
Natural variantiVAR_045939499G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs560915333Ensembl.1
Natural variantiVAR_078237516H → Y Found in a patient with drug-resistant focal epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057519554EnsemblClinVar.1
Natural variantiVAR_066986618P → L in EIG6. 1 PublicationCorresponds to variant dbSNP:rs60734921EnsemblClinVar.1
Natural variantiVAR_045940640P → L2 PublicationsCorresponds to variant dbSNP:rs61734410EnsemblClinVar.1
Natural variantiVAR_045941648P → L in ECA6; creates a dileucine internalization motif that promotes recruitment of clathrin. 2 PublicationsCorresponds to variant dbSNP:rs1288484976Ensembl.1
Natural variantiVAR_045942664V → A3 PublicationsCorresponds to variant dbSNP:rs4984636EnsemblClinVar.1
Natural variantiVAR_045943684P → S1 PublicationCorresponds to variant dbSNP:rs762185083Ensembl.1
Natural variantiVAR_045944744R → Q in ECA6. 1 PublicationCorresponds to variant dbSNP:rs373764821Ensembl.1
Natural variantiVAR_045945748A → V in ECA6. 1 PublicationCorresponds to variant dbSNP:rs770371468Ensembl.1
Natural variantiVAR_066987755G → D in EIG6. 1 PublicationCorresponds to variant dbSNP:rs142306293EnsemblClinVar.1
Natural variantiVAR_045946773G → D in ECA6. 1 PublicationCorresponds to variant dbSNP:rs267606697EnsemblClinVar.1
Natural variantiVAR_045947784G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs779526640Ensembl.1
Natural variantiVAR_045948788R → C1 PublicationCorresponds to variant dbSNP:rs3751664EnsemblClinVar.1
Natural variantiVAR_045949812V → M. Corresponds to variant dbSNP:rs28365119Ensembl.1
Natural variantiVAR_045950831V → M in ECA6. 1 PublicationCorresponds to variant dbSNP:rs119454949EnsemblClinVar.1
Natural variantiVAR_045951848G → S in ECA6. 1 PublicationCorresponds to variant dbSNP:rs374272094EnsemblClinVar.1
Natural variantiVAR_0459521463D → N in ECA6. 1 PublicationCorresponds to variant dbSNP:rs542245543Ensembl.1
Natural variantiVAR_0770651549M → I in HALD4; changed calcium channel activity; increased aldosterone production in response to potassium ion stimulation; increased expression of genes involved in aldosterone biosynthesis, with the strongest effect observed on CYP11B2 expression in response to potassium ion stimulation. 1 Publication1
Natural variantiVAR_0770661549M → V in HALD4; changed calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs786205050EnsemblClinVar.1
Natural variantiVAR_0611041871R → Q. Corresponds to variant dbSNP:rs58124832EnsemblClinVar.1
Natural variantiVAR_0770671951V → E Probable disease-associated variant responsible for primary aldosteronism found in a patient with aldosterone-producing adenoma; changed Ca(2+) channel activity. 1 PublicationCorresponds to variant dbSNP:rs746967306EnsemblClinVar.1
Natural variantiVAR_0787021970S → C Found in a patient with autism; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1267377730Ensembl.1
Natural variantiVAR_0336981974E → G. Corresponds to variant dbSNP:rs3751886EnsemblClinVar.1
Natural variantiVAR_0459532060R → H2 PublicationsCorresponds to variant dbSNP:rs1054644EnsemblClinVar.1
Natural variantiVAR_0459542077R → H3 PublicationsCorresponds to variant dbSNP:rs1054645EnsemblClinVar.1
Natural variantiVAR_0770682083P → L in HALD4; changed calcium channel activity. 1 PublicationCorresponds to variant dbSNP:rs759924732Ensembl.1
Natural variantiVAR_0459552173P → S1 PublicationCorresponds to variant dbSNP:rs200675829EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0009491587 – 1593STFPSPE → K in isoform 2. 1 Publication7

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
AF051946 mRNA Translation: AAC67239.3
AF073931 mRNA Translation: AAD17668.1
AJ420779 mRNA Translation: CAD12646.1
AE006466 Genomic DNA Translation: AAK61268.1 Sequence problems.
AL031703 Genomic DNA Translation: CAC42094.1 Sequence problems.
AC120498 Genomic DNA No translation available.
AF223562 Genomic DNA Translation: AAF60162.1
AF223563 Genomic DNA Translation: AAF60163.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS45375.1 [O95180-1]
CCDS45376.1 [O95180-2]

NCBI Reference Sequences

More...RefSeqi		NP_001005407.1, NM_001005407.1 [O95180-2]
NP_066921.2, NM_021098.2 [O95180-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000348261; ENSP00000334198; ENSG00000196557 [O95180-1]
ENST00000358590; ENSP00000351401; ENSG00000196557 [O95180-2]
ENST00000565831; ENSP00000455840; ENSG00000196557 [O95180-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8912

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8912

UCSC genome browser

More...UCSCi		uc002cks.4, human [O95180-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AF051946 mRNA Translation: AAC67239.3
AF073931 mRNA Translation: AAD17668.1
AJ420779 mRNA Translation: CAD12646.1
AE006466 Genomic DNA Translation: AAK61268.1 Sequence problems.
AL031703 Genomic DNA Translation: CAC42094.1 Sequence problems.
AC120498 Genomic DNA No translation available.
AF223562 Genomic DNA Translation: AAF60162.1
AF223563 Genomic DNA Translation: AAF60163.1
CCDSiCCDS45375.1 [O95180-1]
CCDS45376.1 [O95180-2]
RefSeqiNP_001005407.1, NM_001005407.1 [O95180-2]
NP_066921.2, NM_021098.2 [O95180-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi114426, 7 interactors
IntActiO95180, 5 interactors
MINTiO95180
STRINGi9606.ENSP00000334198

Chemistry databases

BindingDBiO95180
ChEMBLiCHEMBL1859
DrugBankiDB09231, Benidipine
DB01244, Bepridil
DB13746, Bioallethrin
DB11148, Butamben
DB11093, Calcium citrate
DB11348, Calcium Phosphate
DB14481, Calcium phosphate dihydrate
DB09061, Cannabidiol
DB00568, Cinnarizine
DB00153, Ergocalciferol
DB01023, Felodipine
DB04841, Flunarizine
DB00270, Isradipine
DB09238, Manidipine
DB14009, Medical Cannabis
DB01388, Mibefradil
DB14011, Nabiximols
DB01115, Nifedipine
DB01054, Nitrendipine
DB00421, Spironolactone
DB09089, Trimebutine
DB00661, Verapamil
DB00909, Zonisamide
DrugCentraliO95180
GuidetoPHARMACOLOGYi536

Protein family/group databases

TCDBi1.A.1.11.5, the voltage-gated ion channel (vic) superfamily

PTM databases

GlyGeniO95180, 3 sites
iPTMnetiO95180
PhosphoSitePlusiO95180

Polymorphism and mutation databases

BioMutaiCACNA1H

Proteomic databases

jPOSTiO95180
MassIVEiO95180
PaxDbiO95180
PeptideAtlasiO95180
PRIDEiO95180
ProteomicsDBi50690 [O95180-1]
50691 [O95180-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22964, 285 antibodies

Genome annotation databases

EnsembliENST00000348261; ENSP00000334198; ENSG00000196557 [O95180-1]
ENST00000358590; ENSP00000351401; ENSG00000196557 [O95180-2]
ENST00000565831; ENSP00000455840; ENSG00000196557 [O95180-2]
GeneIDi8912
KEGGihsa:8912
UCSCiuc002cks.4, human [O95180-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8912
DisGeNETi8912
EuPathDBiHostDB:ENSG00000196557.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		CACNA1H
HGNCiHGNC:1395, CACNA1H
HPAiENSG00000196557, Tissue enhanced (smooth)
MalaCardsiCACNA1H
MIMi607904, gene
611942, phenotype
617027, phenotype
neXtProtiNX_O95180
OpenTargetsiENSG00000196557
Orphaneti64280, Childhood absence epilepsy
PharmGKBiPA380

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2302, Eukaryota
GeneTreeiENSGT00940000156666
HOGENOMiCLU_000540_2_0_1
InParanoidiO95180
KOiK04855
OMAiRPIHNLL
OrthoDBi172471at2759
PhylomeDBiO95180
TreeFamiTF313555

Enzyme and pathway databases

PathwayCommonsiO95180
ReactomeiR-HSA-419037, NCAM1 interactions

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8912, 6 hits in 873 CRISPR screens

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

More...ChiTaRSi		CACNA1H, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CACNA1H

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

More...GenomeRNAii		8912
PharosiO95180, Tclin

Protein Ontology

More...PROi		PR:O95180
RNActiO95180, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000196557, Expressed in lower esophagus muscularis layer and 119 other tissues
ExpressionAtlasiO95180, baseline and differential
GenevisibleiO95180, HS

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR005821, Ion_trans_dom
IPR005445, VDCC_T_a1
IPR043203, VGCC_Ca_Na
IPR027359, Volt_channel_dom_sf
PANTHERiPTHR10037, PTHR10037, 1 hit
PfamiView protein in Pfam
PF00520, Ion_trans, 4 hits
PRINTSiPR01629, TVDCCALPHA1

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiCAC1H_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: O95180
Secondary accession number(s): B5ME00
, F8WFD1, O95802, Q8WWI6, Q96QI6, Q96RZ9, Q9NYY4, Q9NYY5
<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%5Fand%5Fisoforms">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: September 19, 2002
Last modified: August 12, 2020
This is version 191 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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