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UniProtKB - Q15878 (CAC1E_HUMAN)

Entry version 196 (02 Jun 2021)
Sequence version 3 (14 Oct 2008)
Previous versions | rss
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Protein

Voltage-dependent R-type calcium channel subunit alpha-1E

Gene

CACNA1E

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 channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943).

They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel. They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing.

1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Sitei309Calcium ion selectivity and permeabilityBy similarity1
Sitei657Calcium ion selectivity and permeabilityBy similarity1
Sitei1372Calcium ion selectivity and permeabilityBy similarity1
Sitei1663Calcium ion selectivity and permeabilityBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 bindingi426 – 437PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi1752 – 1763PROSITE-ProRule annotationAdd 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

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q15878

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-112308, Presynaptic depolarization and calcium channel opening
R-HSA-422356, Regulation of insulin secretion

<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 R-type calcium channel subunit alpha-1E
Alternative name(s):
Brain calcium channel II
Short name:
BII
Calcium channel, L type, alpha-1 polypeptide, isoform 6
Voltage-gated calcium channel subunit alpha Cav2.3
<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:CACNA1E
Synonyms:CACH6, CACNL1A6
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1392, CACNA1E

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601013, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q15878

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000198216.10

<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

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 – 89CytoplasmicSequence analysisAdd BLAST89
<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>Transmembranei90 – 108Helical; Name=S1 of repeat IAdd BLAST19
Topological domaini109 – 127ExtracellularSequence analysisAdd BLAST19
Transmembranei128 – 146Helical; Name=S2 of repeat IAdd BLAST19
Topological domaini147 – 158CytoplasmicSequence analysisAdd BLAST12
Transmembranei159 – 173Helical; Name=S3 of repeat IAdd BLAST15
Topological domaini174 – 185ExtracellularSequence analysisAdd BLAST12
Transmembranei186 – 205Helical; Name=S4 of repeat IAdd BLAST20
Topological domaini206 – 223CytoplasmicSequence analysisAdd BLAST18
Transmembranei224 – 244Helical; Name=S5 of repeat IAdd BLAST21
Topological domaini245 – 326ExtracellularSequence analysisAdd BLAST82
Transmembranei327 – 350Helical; Name=S6 of repeat IAdd BLAST24
Topological domaini351 – 476CytoplasmicSequence analysisAdd BLAST126
Transmembranei477 – 496Helical; Name=S1 of repeat IIAdd BLAST20
Topological domaini497 – 509ExtracellularSequence analysisAdd BLAST13
Transmembranei510 – 529Helical; Name=S2 of repeat IIAdd BLAST20
Topological domaini530 – 538CytoplasmicSequence analysis9
Transmembranei539 – 557Helical; Name=S3 of repeat IIAdd BLAST19
Topological domaini558 – 567ExtracellularSequence analysis10
Transmembranei568 – 586Helical; Name=S4 of repeat IIAdd BLAST19
Topological domaini587 – 605CytoplasmicSequence analysisAdd BLAST19
Transmembranei606 – 625Helical; Name=S5 of repeat IIAdd BLAST20
Topological domaini626 – 678ExtracellularSequence analysisAdd BLAST53
Transmembranei679 – 703Helical; Name=S6 of repeat IIAdd BLAST25
Topological domaini704 – 1148CytoplasmicSequence analysisAdd BLAST445
Transmembranei1149 – 1165Helical; Name=S1 of repeat IIIAdd BLAST17
Topological domaini1166 – 1189ExtracellularSequence analysisAdd BLAST24
Transmembranei1190 – 1209Helical; Name=S2 of repeat IIIAdd BLAST20
Topological domaini1210 – 1217CytoplasmicSequence analysis8
Transmembranei1218 – 1240Helical; Name=S3 of repeat IIIAdd BLAST23
Topological domaini1241 – 1254ExtracellularSequence analysisAdd BLAST14
Transmembranei1255 – 1272Helical; Name=S4 of repeat IIIAdd BLAST18
Topological domaini1273 – 1291CytoplasmicSequence analysisAdd BLAST19
Transmembranei1292 – 1311Helical; Name=S5 of repeat IIIAdd BLAST20
Topological domaini1312 – 1398ExtracellularSequence analysisAdd BLAST87
Transmembranei1399 – 1422Helical; Name=S6 of repeat IIIAdd BLAST24
Topological domaini1423 – 1479CytoplasmicSequence analysisAdd BLAST57
Transmembranei1480 – 1498Helical; Name=S1 of repeat IVAdd BLAST19
Topological domaini1499 – 1513ExtracellularSequence analysisAdd BLAST15
Transmembranei1514 – 1533Helical; Name=S2 of repeat IVAdd BLAST20
Topological domaini1534 – 1541CytoplasmicSequence analysis8
Transmembranei1542 – 1560Helical; Name=S3 of repeat IVAdd BLAST19
Topological domaini1561 – 1571ExtracellularSequence analysisAdd BLAST11
Transmembranei1572 – 1590Helical; Name=S4 of repeat IVAdd BLAST19
Topological domaini1591 – 1609CytoplasmicSequence analysisAdd BLAST19
Transmembranei1610 – 1629Helical; Name=S5 of repeat IVAdd BLAST20
Topological domaini1630 – 1698ExtracellularSequence analysisAdd BLAST69
Transmembranei1699 – 1724Helical; Name=S6 of repeat IVAdd BLAST26
Topological domaini1725 – 2313CytoplasmicSequence analysisAdd BLAST589

Keywords - Cellular componenti

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

Developmental and epileptic encephalopathy 69 (DEE69)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE69 is an autosomal dominant form characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication.
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_081838228L → P in DEE69. 1 PublicationCorresponds to variant dbSNP:rs1553286282EnsemblClinVar.1
Natural variantiVAR_081839348G → R in DEE69. 1 Publication1
Natural variantiVAR_081840352G → R in DEE69. 1 PublicationCorresponds to variant dbSNP:rs886039323EnsemblClinVar.1
Natural variantiVAR_081841603I → L in DEE69; gain-of-function variant affecting channel activity; results in hyperpolarizing shift in half activation voltage. 1 PublicationCorresponds to variant dbSNP:rs778291283EnsemblClinVar.1
Natural variantiVAR_081842690G → D in DEE69. 1 PublicationCorresponds to variant dbSNP:rs1361083258EnsemblClinVar.1
Natural variantiVAR_081843698F → S in DEE69; gain-of-function variant affecting channel activity; shifts the voltage dependence of activation toward more negative potentials and slows the fast inactivation time course. 1 PublicationCorresponds to variant dbSNP:rs869312920EnsemblClinVar.1
Natural variantiVAR_081844700A → T in DEE69. 1 Publication1
Natural variantiVAR_081845701I → V in DEE69; gain-of-function variant affecting channel activity; shifts the voltage dependence of activation toward more negative potentials and slows the fast inactivation time course. 1 Publication1
Natural variantiVAR_081846702A → P in DEE69. 1 PublicationCorresponds to variant dbSNP:rs12131800EnsemblClinVar.1
Natural variantiVAR_081847702A → T in DEE69; gain-of-function variant affecting channel activity; shifts the voltage dependence of activation toward more negative potentials and slows the fast inactivation time course. 1 PublicationCorresponds to variant dbSNP:rs12131800EnsemblClinVar.1
Natural variantiVAR_081848829 – 2313Missing in DEE69; unknown pathological significance. 1 PublicationAdd BLAST1485
Natural variantiVAR_0818491389 – 2313Missing in DEE69; unknown pathological significance. 1 PublicationAdd BLAST925
Natural variantiVAR_0818501422I → F in DEE69. 1 Publication1
Natural variantiVAR_0818511425T → N in DEE69. 1 Publication1
Natural variantiVAR_0818521430G → R in DEE69. 1 PublicationCorresponds to variant dbSNP:rs1553345844EnsemblClinVar.1
Natural variantiVAR_0818531720A → G in DEE69. 1 Publication1

Keywords - Diseasei

Disease variant, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		777

MalaCards human disease database

More...MalaCardsi		CACNA1E
MIMi618285, phenotype

Open Targets

More...OpenTargetsi		ENSG00000198216

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26009

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q15878, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1687682

Drug and drug target database

More...DrugBanki		DB13746, Bioallethrin
DB11148, Butamben
DB11093, Calcium citrate
DB11348, Calcium Phosphate
DB14481, Calcium phosphate dihydrate
DB00228, Enflurane
DB00153, Ergocalciferol
DB00555, Lamotrigine
DB00421, Spironolactone
DB00273, Topiramate

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		534

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CACNA1E

Domain mapping of disease mutations (DMDM)

More...DMDMi		209572758

<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_00000539381 – 2313Voltage-dependent R-type calcium channel subunit alpha-1EAdd BLAST2313

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei14PhosphoserineBy similarity1
Modified residuei19PhosphoserineBy similarity1
<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>Glycosylationi254N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei427PhosphoserineBy similarity1
Modified residuei440PhosphothreonineBy similarity1
Modified residuei736PhosphoserineBy similarity1
Modified residuei745PhosphoserineBy similarity1
Modified residuei793PhosphoserineBy similarity1
Modified residuei815PhosphoserineBy similarity1
Modified residuei855PhosphoserineBy similarity1
Modified residuei947PhosphoserineBy similarity1
Modified residuei1097PhosphoserineBy similarity1
Glycosylationi1566N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1571N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei2094PhosphoserineBy similarity1
Modified residuei2113PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q15878

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q15878

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q15878

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q15878

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

More...PaxDbi		Q15878

PeptideAtlas

More...PeptideAtlasi		Q15878

PRoteomics IDEntifications database

More...PRIDEi		Q15878

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		60800 [Q15878-1]
60801 [Q15878-2]
60802 [Q15878-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q15878, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q15878

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

More...PhosphoSitePlusi		Q15878

<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

Expressed in neuronal tissues and in kidney.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000198216, Expressed in caudate nucleus and 88 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q15878, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q15878, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000198216, Tissue enriched (brain)

<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 with EFHC1. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107231, 3 interactors

Protein interaction database and analysis system

More...IntActi		Q15878, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000356545

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q15878

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q15878, protein

<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

12313
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q15878

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q15878

<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>Repeati76 – 354IAdd BLAST279
Repeati462 – 706IIAdd BLAST245
Repeati1140 – 1426IIIAdd BLAST287
Repeati1463 – 1726IVAdd BLAST264
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1739 – 1774EF-handPROSITE-ProRule annotationAdd BLAST36

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>Regioni1 – 38DisorderedSequence analysisAdd BLAST38
Regioni374 – 391Binding to the beta subunitBy similarityAdd BLAST18
Regioni729 – 774DisorderedSequence analysisAdd BLAST46
Regioni851 – 984DisorderedSequence analysisAdd BLAST134
Regioni1103 – 1125DisorderedSequence analysisAdd BLAST23
Regioni1970 – 2170DisorderedSequence analysisAdd BLAST201
Regioni2206 – 2225DisorderedSequence analysisAdd BLAST20
Regioni2263 – 2295DisorderedSequence analysisAdd BLAST33

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi17 – 31Polar residuesSequence analysisAdd BLAST15
Compositional biasi745 – 765Basic and acidic residuesSequence analysisAdd BLAST21
Compositional biasi950 – 982Basic and acidic residuesSequence analysisAdd BLAST33
Compositional biasi1970 – 1996Polar residuesSequence analysisAdd BLAST27
Compositional biasi2005 – 2019Polar residuesSequence analysisAdd BLAST15
Compositional biasi2020 – 2034Basic and acidic residuesSequence analysisAdd BLAST15
Compositional biasi2065 – 2122Basic and acidic residuesSequence analysisAdd BLAST58
Compositional biasi2123 – 2156Polar residuesSequence analysisAdd BLAST34

<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. CACNA1E subfamily. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2301, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155601

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000540_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q15878

Identification of Orthologs from Complete Genome Data

More...OMAi		GQFQEHQ

Database of Orthologous Groups

More...OrthoDBi		172471at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q15878

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
IPR002048, EF_hand_dom
IPR031649, GPHH_dom
IPR005821, Ion_trans_dom
IPR014873, VDCC_a1su_IQ
IPR005449, VDCC_R_a1su
IPR002077, VDCCAlpha1
IPR027359, Volt_channel_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR45628:SF5, PTHR45628:SF5, 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
PR01633, RVDCCALPHA1

Simple Modular Architecture Research Tool; a protein domain database

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

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50222, EF_HAND_2, 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%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 (3+)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 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15878-1) [UniParc]FASTAAdd to basket
Also known as: Alpha-1E

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
MARFGEAVVA RPGSGDGDSD QSRNRQGTPV PASGQAAAYK QTKAQRARTM 
        60         70         80         90        100
ALYNPIPVRQ NCFTVNRSLF IFGEDNIVRK YAKKLIDWPP FEYMILATII 
       110        120        130        140        150
ANCIVLALEQ HLPEDDKTPM SRRLEKTEPY FIGIFCFEAG IKIVALGFIF 
       160        170        180        190        200
HKGSYLRNGW NVMDFIVVLS GILATAGTHF NTHVDLRTLR AVRVLRPLKL 
       210        220        230        240        250
VSGIPSLQIV LKSIMKAMVP LLQIGLLLFF AILMFAIIGL EFYSGKLHRA 
       260        270        280        290        300
CFMNNSGILE GFDPPHPCGV QGCPAGYECK DWIGPNDGIT QFDNILFAVL 
       310        320        330        340        350
TVFQCITMEG WTTVLYNTND ALGATWNWLY FIPLIIIGSF FVLNLVLGVL 
       360        370        380        390        400
SGEFAKERER VENRRAFMKL RRQQQIEREL NGYRAWIDKA EEVMLAEENK 
       410        420        430        440        450
NAGTSALEVL RRATIKRSRT EAMTRDSSDE HCVDISSVGT PLARASIKSA 
       460        470        480        490        500
KVDGVSYFRH KERLLRISIR HMVKSQVFYW IVLSLVALNT ACVAIVHHNQ 
       510        520        530        540        550
PQWLTHLLYY AEFLFLGLFL LEMSLKMYGM GPRLYFHSSF NCFDFGVTVG 
       560        570        580        590        600
SIFEVVWAIF RPGTSFGISV LRALRLLRIF KITKYWASLR NLVVSLMSSM 
       610        620        630        640        650
KSIISLLFLL FLFIVVFALL GMQLFGGRFN FNDGTPSANF DTFPAAIMTV 
       660        670        680        690        700
FQILTGEDWN EVMYNGIRSQ GGVSSGMWSA IYFIVLTLFG NYTLLNVFLA 
       710        720        730        740        750
IAVDNLANAQ ELTKDEQEEE EAFNQKHALQ KAKEVSPMSA PNMPSIERDR 
       760        770        780        790        800
RRRHHMSMWE PRSSHLRERR RRHHMSVWEQ RTSQLRKHMQ MSSQEALNRE 
       810        820        830        840        850
EAPTMNPLNP LNPLSSLNPL NAHPSLYRRP RAIEGLALGL ALEKFEEERI 
       860        870        880        890        900
SRGGSLKGDG GDRSSALDNQ RTPLSLGQRE PPWLARPCHG NCDPTQQEAG 
       910        920        930        940        950
GGEAVVTFED RARHRQSQRR SRHRRVRTEG KESSSASRSR SASQERSLDE 
       960        970        980        990       1000
AMPTEGEKDH ELRGNHGAKE PTIQEERAQD LRRTNSLMVS RGSGLAGGLD 
      1010       1020       1030       1040       1050
EADTPLVLPH PELEVGKHVV LTEQEPEGSS EQALLGNVQL DMGRVISQSE 
      1060       1070       1080       1090       1100
PDLSCITANT DKATTESTSV TVAIPDVDPL VDSTVVHISN KTDGEASPLK 
      1110       1120       1130       1140       1150
EAEIREDEEE VEKKKQKKEK RETGKAMVPH SSMFIFSTTN PIRRACHYIV 
      1160       1170       1180       1190       1200
NLRYFEMCIL LVIAASSIAL AAEDPVLTNS ERNKVLRYFD YVFTGVFTFE 
      1210       1220       1230       1240       1250
MVIKMIDQGL ILQDGSYFRD LWNILDFVVV VGALVAFALA NALGTNKGRD 
      1260       1270       1280       1290       1300
IKTIKSLRVL RVLRPLKTIK RLPKLKAVFD CVVTSLKNVF NILIVYKLFM 
      1310       1320       1330       1340       1350
FIFAVIAVQL FKGKFFYCTD SSKDTEKECI GNYVDHEKNK MEVKGREWKR 
      1360       1370       1380       1390       1400
HEFHYDNIIW ALLTLFTVST GEGWPQVLQH SVDVTEEDRG PSRSNRMEMS 
      1410       1420       1430       1440       1450
IFYVVYFVVF PFFFVNIFVA LIIITFQEQG DKMMEECSLE KNERACIDFA 
      1460       1470       1480       1490       1500
ISAKPLTRYM PQNRHTFQYR VWHFVVSPSF EYTIMAMIAL NTVVLMMKYY 
      1510       1520       1530       1540       1550
SAPCTYELAL KYLNIAFTMV FSLECVLKVI AFGFLNYFRD TWNIFDFITV 
      1560       1570       1580       1590       1600
IGSITEIILT DSKLVNTSGF NMSFLKLFRA ARLIKLLRQG YTIRILLWTF 
      1610       1620       1630       1640       1650
VQSFKALPYV CLLIAMLFFI YAIIGMQVFG NIKLDEESHI NRHNNFRSFF 
      1660       1670       1680       1690       1700
GSLMLLFRSA TGEAWQEIML SCLGEKGCEP DTTAPSGQNE NERCGTDLAY 
      1710       1720       1730       1740       1750
VYFVSFIFFC SFLMLNLFVA VIMDNFEYLT RDSSILGPHH LDEFVRVWAE 
      1760       1770       1780       1790       1800
YDRAACGRIH YTEMYEMLTL MSPPLGLGKR CPSKVAYKRL VLMNMPVAED 
      1810       1820       1830       1840       1850
MTVHFTSTLM ALIRTALDIK IAKGGADRQQ LDSELQKETL AIWPHLSQKM 
      1860       1870       1880       1890       1900
LDLLVPMPKA SDLTVGKIYA AMMIMDYYKQ SKVKKQRQQL EEQKNAPMFQ 
      1910       1920       1930       1940       1950
RMEPSSLPQE IIANAKALPY LQQDPVSGLS GRSGYPSMSP LSPQDIFQLA 
      1960       1970       1980       1990       2000
CMDPADDGQF QERQSLEPEV SELKSVQPSN HGIYLPSDTQ EHAGSGRASS 
      2010       2020       2030       2040       2050
MPRLTVDPQV VTDPSSMRRS FSTIRDKRSN SSWLEEFSME RSSENTYKSR 
      2060       2070       2080       2090       2100
RRSYHSSLRL SAHRLNSDSG HKSDTHRSGG RERGRSKERK HLLSPDVSRC 
      2110       2120       2130       2140       2150
NSEERGTQAD WESPERRQSR SPSEGRSQTP NRQGTGSLSE SSIPSVSDTS 
      2160       2170       2180       2190       2200
TPRRSRRQLP PVPPKPRPLL SYSSLIRHAG SISPPADGSE EGSPLTSQAL 
      2210       2220       2230       2240       2250
ESNNACLTES SNSPHPQQSQ HASPQRYISE PYLALHEDSH ASDCGEEETL 
      2260       2270       2280       2290       2300
TFEAAVATSL GRSNTIGSAP PLRHSWQMPN GHYRRRRRGG PGPGMMCGAV 
      2310 
NNLLSDTEED DKC
Length:2,313
Mass (Da):261,731
Last modified:October 14, 2008 - v3
<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:iCCC7F309C27C42F1
GO
Isoform 2 (identifier: Q15878-2) [UniParc]FASTAAdd to basket
Also known as: Alpha-1E-1

The sequence of this isoform differs from the canonical sequence as follows:
     748-766: Missing.
     1967-2009: Missing.

Show »
Length:2,251
Mass (Da):254,604
Checksum:i73640AD59C386BB2
GO
Isoform 3 (identifier: Q15878-3) [UniParc]FASTAAdd to basket
Also known as: Alpha-1E-3

The sequence of this isoform differs from the canonical sequence as follows:
     1967-2009: Missing.

Show »
Length:2,270
Mass (Da):257,116
Checksum:iD424C3592C9BD5F5
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W9Z1F8W9Z1_HUMAN
Voltage-dependent R-type calcium ch...
CACNA1E
2,294Annotation 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>
J3KP11J3KP11_HUMAN
Voltage-dependent R-type calcium ch...
CACNA1E
2,312Annotation 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>
E9PIE8E9PIE8_HUMAN
Voltage-dependent R-type calcium ch...
CACNA1E
583Annotation 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>
A0A2R8Y7W1A0A2R8Y7W1_HUMAN
Voltage-dependent R-type calcium ch...
CACNA1E
110Annotation 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>

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 conflicti648M → I in AAA72125 (PubMed:7536609).Curated1
Sequence conflicti836 – 838LAL → WP in AAA72125 (PubMed:7536609).Curated3
Sequence conflicti2077R → P in AAA59204 (PubMed:8071363).Curated1
Sequence conflicti2077R → P in AAA59205 (PubMed:8071363).Curated1
Sequence conflicti2084G → R in AAA59204 (PubMed:8071363).Curated1
Sequence conflicti2084G → R in AAA59205 (PubMed:8071363).Curated1
Sequence conflicti2206C → W in AAA59204 (PubMed:8071363).Curated1
Sequence conflicti2206C → W in AAA59205 (PubMed:8071363).Curated1
Sequence conflicti2219S → R in AAA59204 (PubMed:8071363).Curated1
Sequence conflicti2219S → R in AAA59205 (PubMed:8071363).Curated1
Sequence conflicti2245G → V in AAA59204 (PubMed:8071363).Curated1
Sequence conflicti2245G → V in AAA59205 (PubMed:8071363).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081838228L → P in DEE69. 1 PublicationCorresponds to variant dbSNP:rs1553286282EnsemblClinVar.1
Natural variantiVAR_081839348G → R in DEE69. 1 Publication1
Natural variantiVAR_081840352G → R in DEE69. 1 PublicationCorresponds to variant dbSNP:rs886039323EnsemblClinVar.1
Natural variantiVAR_081841603I → L in DEE69; gain-of-function variant affecting channel activity; results in hyperpolarizing shift in half activation voltage. 1 PublicationCorresponds to variant dbSNP:rs778291283EnsemblClinVar.1
Natural variantiVAR_081842690G → D in DEE69. 1 PublicationCorresponds to variant dbSNP:rs1361083258EnsemblClinVar.1
Natural variantiVAR_081843698F → S in DEE69; gain-of-function variant affecting channel activity; shifts the voltage dependence of activation toward more negative potentials and slows the fast inactivation time course. 1 PublicationCorresponds to variant dbSNP:rs869312920EnsemblClinVar.1
Natural variantiVAR_081844700A → T in DEE69. 1 Publication1
Natural variantiVAR_081845701I → V in DEE69; gain-of-function variant affecting channel activity; shifts the voltage dependence of activation toward more negative potentials and slows the fast inactivation time course. 1 Publication1
Natural variantiVAR_081846702A → P in DEE69. 1 PublicationCorresponds to variant dbSNP:rs12131800EnsemblClinVar.1
Natural variantiVAR_081847702A → T in DEE69; gain-of-function variant affecting channel activity; shifts the voltage dependence of activation toward more negative potentials and slows the fast inactivation time course. 1 PublicationCorresponds to variant dbSNP:rs12131800EnsemblClinVar.1
Natural variantiVAR_081848829 – 2313Missing in DEE69; unknown pathological significance. 1 PublicationAdd BLAST1485
Natural variantiVAR_031912859D → E. Corresponds to variant dbSNP:rs35737760Ensembl.1
Natural variantiVAR_0818491389 – 2313Missing in DEE69; unknown pathological significance. 1 PublicationAdd BLAST925
Natural variantiVAR_0818501422I → F in DEE69. 1 Publication1
Natural variantiVAR_0818511425T → N in DEE69. 1 Publication1
Natural variantiVAR_0818521430G → R in DEE69. 1 PublicationCorresponds to variant dbSNP:rs1553345844EnsemblClinVar.1
Natural variantiVAR_0818531720A → G in DEE69. 1 Publication1
Natural variantiVAR_0469961955A → T1 PublicationCorresponds to variant dbSNP:rs704326Ensembl.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_000937748 – 766Missing in isoform 2. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_0248171967 – 2009Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST43

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
L27745 mRNA Translation: AAA72125.1
L29384 mRNA Translation: AAA59204.1
L29385 mRNA Translation: AAA59205.1
AL161734 Genomic DNA No translation available.
AL359270 Genomic DNA No translation available.
AL160059 Genomic DNA No translation available.
AL590998 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS53443.1 [Q15878-3]
CCDS55664.1 [Q15878-1]
CCDS55665.1 [Q15878-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A54972
B54972

NCBI Reference Sequences

More...RefSeqi		NP_000712.2, NM_000721.3 [Q15878-3]
NP_001192222.1, NM_001205293.1 [Q15878-1]
NP_001192223.1, NM_001205294.1 [Q15878-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000358338; ENSP00000351101; ENSG00000198216 [Q15878-2]
ENST00000367567; ENSP00000356539; ENSG00000198216 [Q15878-3]
ENST00000367570; ENSP00000356542; ENSG00000198216 [Q15878-3]
ENST00000367573; ENSP00000356545; ENSG00000198216 [Q15878-1]
ENST00000621551; ENSP00000483914; ENSG00000198216 [Q15878-1]
ENST00000621791; ENSP00000481619; ENSG00000198216 [Q15878-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		777

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:777

UCSC genome browser

More...UCSCi		uc001gow.5, human [Q15878-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
L27745 mRNA Translation: AAA72125.1
L29384 mRNA Translation: AAA59204.1
L29385 mRNA Translation: AAA59205.1
AL161734 Genomic DNA No translation available.
AL359270 Genomic DNA No translation available.
AL160059 Genomic DNA No translation available.
AL590998 Genomic DNA No translation available.
CCDSiCCDS53443.1 [Q15878-3]
CCDS55664.1 [Q15878-1]
CCDS55665.1 [Q15878-2]
PIRiA54972
B54972
RefSeqiNP_000712.2, NM_000721.3 [Q15878-3]
NP_001192222.1, NM_001205293.1 [Q15878-1]
NP_001192223.1, NM_001205294.1 [Q15878-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3BXLX-ray2.30B1867-1887[»]
SMRiQ15878
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107231, 3 interactors
IntActiQ15878, 1 interactor
STRINGi9606.ENSP00000356545

Chemistry databases

BindingDBiQ15878
ChEMBLiCHEMBL1687682
DrugBankiDB13746, Bioallethrin
DB11148, Butamben
DB11093, Calcium citrate
DB11348, Calcium Phosphate
DB14481, Calcium phosphate dihydrate
DB00228, Enflurane
DB00153, Ergocalciferol
DB00555, Lamotrigine
DB00421, Spironolactone
DB00273, Topiramate
GuidetoPHARMACOLOGYi534

PTM databases

GlyGeniQ15878, 3 sites
iPTMnetiQ15878
PhosphoSitePlusiQ15878

Genetic variation databases

BioMutaiCACNA1E
DMDMi209572758

Proteomic databases

EPDiQ15878
jPOSTiQ15878
MassIVEiQ15878
MaxQBiQ15878
PaxDbiQ15878
PeptideAtlasiQ15878
PRIDEiQ15878
ProteomicsDBi60800 [Q15878-1]
60801 [Q15878-2]
60802 [Q15878-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34433, 121 antibodies

The DNASU plasmid repository

More...DNASUi		777

Genome annotation databases

EnsembliENST00000358338; ENSP00000351101; ENSG00000198216 [Q15878-2]
ENST00000367567; ENSP00000356539; ENSG00000198216 [Q15878-3]
ENST00000367570; ENSP00000356542; ENSG00000198216 [Q15878-3]
ENST00000367573; ENSP00000356545; ENSG00000198216 [Q15878-1]
ENST00000621551; ENSP00000483914; ENSG00000198216 [Q15878-1]
ENST00000621791; ENSP00000481619; ENSG00000198216 [Q15878-2]
GeneIDi777
KEGGihsa:777
UCSCiuc001gow.5, human [Q15878-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		777
DisGeNETi777

GeneCards: human genes, protein and diseases

More...GeneCardsi		CACNA1E
HGNCiHGNC:1392, CACNA1E
HPAiENSG00000198216, Tissue enriched (brain)
MalaCardsiCACNA1E
MIMi601013, gene
618285, phenotype
neXtProtiNX_Q15878
OpenTargetsiENSG00000198216
PharmGKBiPA26009
VEuPathDBiHostDB:ENSG00000198216.10

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2301, Eukaryota
GeneTreeiENSGT00940000155601
HOGENOMiCLU_000540_1_0_1
InParanoidiQ15878
OMAiGQFQEHQ
OrthoDBi172471at2759
PhylomeDBiQ15878
TreeFamiTF312805

Enzyme and pathway databases

PathwayCommonsiQ15878
ReactomeiR-HSA-112308, Presynaptic depolarization and calcium channel opening
R-HSA-422356, Regulation of insulin secretion

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		777, 4 hits in 976 CRISPR screens

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

More...ChiTaRSi		CACNA1E, human
EvolutionaryTraceiQ15878

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		R-type_calcium_channel

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

More...GenomeRNAii		777
PharosiQ15878, Tchem

Protein Ontology

More...PROi		PR:Q15878
RNActiQ15878, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000198216, Expressed in caudate nucleus and 88 other tissues
ExpressionAtlasiQ15878, baseline and differential
GenevisibleiQ15878, HS

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR002048, EF_hand_dom
IPR031649, GPHH_dom
IPR005821, Ion_trans_dom
IPR014873, VDCC_a1su_IQ
IPR005449, VDCC_R_a1su
IPR002077, VDCCAlpha1
IPR027359, Volt_channel_dom_sf
PANTHERiPTHR45628:SF5, PTHR45628:SF5, 1 hit
PfamiView protein in Pfam
PF08763, Ca_chan_IQ, 1 hit
PF16905, GPHH, 1 hit
PF00520, Ion_trans, 4 hits
PRINTSiPR00167, CACHANNEL
PR01633, RVDCCALPHA1
SMARTiView protein in SMART
SM01062, Ca_chan_IQ, 1 hit
PROSITEiView protein in PROSITE
PS50222, EF_HAND_2, 1 hit

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 nameiCAC1E_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: Q15878
Secondary accession number(s): B1AM12
, B1AM13, B1AM14, Q14580, Q14581
<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: October 14, 2008
Last modified: June 2, 2021
This is version 196 of the entry and version 3 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

3D-structure, Reference proteome

Documents

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