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Entry version 184 (13 Feb 2019)
Sequence version 3 (03 Nov 2009)
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Protein

Voltage-dependent calcium channel subunit alpha-2/delta-1

Gene

CACNA2D1

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

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity).By similarity

Miscellaneous

Binds gabapentin, an antiepileptic drug.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi259Divalent metal cationBy similarity1
Metal bindingi261Divalent metal cationBy similarity1
Metal bindingi263Divalent metal cationBy 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

  • metal ion binding Source: UniProtKB-KW
  • voltage-gated calcium channel activity Source: BHF-UCL

GO - Biological processi

<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

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-5576893 Phase 2 - plateau phase

Protein family/group databases

Transport Classification Database

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TCDBi
8.A.18.1.1 the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Voltage-dependent calcium channel subunit alpha-2/delta-1
Alternative name(s):
Voltage-gated calcium channel subunit alpha-2/delta-1
Cleaved into the following 2 chains:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CACNA2D1
Synonyms:CACNL2A, CCHL2A, MHS3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000153956.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1399 CACNA2D1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
114204 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P54289

<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_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini25 – 1073ExtracellularSequence analysisAdd BLAST1049
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1074 – 1094HelicalSequence analysisAdd BLAST21
Topological domaini1095 – 1103CytoplasmicSequence analysis9

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
781

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

More...
GeneReviewsi
CACNA2D1

MalaCards human disease database

More...
MalaCardsi
CACNA2D1

Open Targets

More...
OpenTargetsi
ENSG00000153956

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

More...
Orphaneti
130 Brugada syndrome
51083 Familial short QT syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA86

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1919

Drug and drug target database

More...
DrugBanki
DB00381 Amlodipine
DB04838 Cyclandelate
DB01023 Felodipine
DB00996 Gabapentin
DB00308 Ibutilide
DB00270 Isradipine
DB00653 Magnesium Sulfate
DB00622 Nicardipine
DB01115 Nifedipine
DB06712 Nilvadipine
DB00401 Nisoldipine
DB01054 Nitrendipine
DB00421 Spironolactone
DB04922 XP13512

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CACNA2D1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
262527579

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Sequence analysisAdd BLAST24
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000030463325 – 1103Voltage-dependent calcium channel subunit alpha-2/delta-1Add BLAST1079
ChainiPRO_000000500125 – 956Voltage-dependent calcium channel subunit alpha-2-1By similarityAdd BLAST932
ChainiPRO_0000005002957 – 1103Voltage-dependent calcium channel subunit delta-1By similarityAdd BLAST147

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi92N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei119PhosphoserineBy similarity1
Glycosylationi136N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi184N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi324N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi348N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi404 ↔ 1059Interchain (between alpha-2-1 and delta-1 chains)
Glycosylationi468N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi475N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi604N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi613N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi675N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi781N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi824N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi888N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi895N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi985N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi998N-linked (GlcNAc...) asparagineSequence analysis1

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

Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P54289

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P54289

MaxQB - The MaxQuant DataBase

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MaxQBi
P54289

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

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PaxDbi
P54289

PeptideAtlas

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PeptideAtlasi
P54289

PRoteomics IDEntifications database

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PRIDEi
P54289

ProteomicsDB human proteome resource

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ProteomicsDBi
56675
56676 [P54289-2]
56677 [P54289-3]
56678 [P54289-4]
56679 [P54289-5]

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1895

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P54289

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

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PhosphoSitePlusi
P54289

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P54289

<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

Isoform 1 is expressed in skeletal muscle. Isoform 2 is expressed in the central nervous system. Isoform 2, isoform 4 and isoform 5 are expressed in neuroblastoma cells. Isoform 3, isoform 4 and isoform 5 are expressed in the aorta.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000153956 Expressed in 204 organ(s), highest expression level in biceps brachii

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P54289 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P54289 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA008213
HPA008621

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

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

Dimer formed of alpha-2-1 and delta-1 chains; disulfide-linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1:1:1:1 ratio (By similarity).By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107235, 50 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-3192 Skeletal muscle VGCC complex
CPX-3195 Cardiac muscle VGCC complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P54289

Protein interaction database and analysis system

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IntActi
P54289, 11 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000349320

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P54289

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P54289

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

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SMRi
P54289

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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 <a href="http://www.uniprot.org/help/family_and_domains_section">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>Domaini253 – 430VWFAPROSITE-ProRule annotationAdd BLAST178
Domaini446 – 556CacheAdd BLAST111

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi259 – 263MIDAS-like motif5

<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

The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch.By similarity

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

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2353 Eukaryota
ENOG410XPDX LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155209

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG057779

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P54289

KEGG Orthology (KO)

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KOi
K04858

Identification of Orthologs from Complete Genome Data

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OMAi
HIGWWAT

Database of Orthologous Groups

More...
OrthoDBi
1518030at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P54289

TreeFam database of animal gene trees

More...
TreeFami
TF315824

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.410, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013680 VDCC_a2/dsu
IPR013608 VWA_N
IPR002035 VWF_A
IPR036465 vWFA_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08473 VGCC_alpha2, 1 hit
PF00092 VWA, 1 hit
PF08399 VWA_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00327 VWA, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53300 SSF53300, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50234 VWFA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

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

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <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 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P54289-1) [UniParc]FASTAAdd to basket
Also known as: Alpha-2a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAGCLLALT LTLFQSLLIG PSSEEPFPSA VTIKSWVDKM QEDLVTLAKT
60 70 80 90 100
ASGVNQLVDI YEKYQDLYTV EPNNARQLVE IAARDIEKLL SNRSKALVRL
110 120 130 140 150
ALEAEKVQAA HQWREDFASN EVVYYNAKDD LDPEKNDSEP GSQRIKPVFI
160 170 180 190 200
EDANFGRQIS YQHAAVHIPT DIYEGSTIVL NELNWTSALD EVFKKNREED
210 220 230 240 250
PSLLWQVFGS ATGLARYYPA SPWVDNSRTP NKIDLYDVRR RPWYIQGAAS
260 270 280 290 300
PKDMLILVDV SGSVSGLTLK LIRTSVSEML ETLSDDDFVN VASFNSNAQD
310 320 330 340 350
VSCFQHLVQA NVRNKKVLKD AVNNITAKGI TDYKKGFSFA FEQLLNYNVS
360 370 380 390 400
RANCNKIIML FTDGGEERAQ EIFNKYNKDK KVRVFTFSVG QHNYDRGPIQ
410 420 430 440 450
WMACENKGYY YEIPSIGAIR INTQEYLDVL GRPMVLAGDK AKQVQWTNVY
460 470 480 490 500
LDALELGLVI TGTLPVFNIT GQFENKTNLK NQLILGVMGV DVSLEDIKRL
510 520 530 540 550
TPRFTLCPNG YYFAIDPNGY VLLHPNLQPK PIGVGIPTIN LRKRRPNIQN
560 570 580 590 600
PKSQEPVTLD FLDAELENDI KVEIRNKMID GESGEKTFRT LVKSQDERYI
610 620 630 640 650
DKGNRTYTWT PVNGTDYSLA LVLPTYSFYY IKAKLEETIT QARYSETLKP
660 670 680 690 700
DNFEESGYTF IAPRDYCNDL KISDNNTEFL LNFNEFIDRK TPNNPSCNAD
710 720 730 740 750
LINRVLLDAG FTNELVQNYW SKQKNIKGVK ARFVVTDGGI TRVYPKEAGE
760 770 780 790 800
NWQENPETYE DSFYKRSLDN DNYVFTAPYF NKSGPGAYES GIMVSKAVEI
810 820 830 840 850
YIQGKLLKPA VVGIKIDVNS WIENFTKTSI RDPCAGPVCD CKRNSDVMDC
860 870 880 890 900
VILDDGGFLL MANHDDYTNQ IGRFFGEIDP SLMRHLVNIS VYAFNKSYDY
910 920 930 940 950
QSVCEPGAAP KQGAGHRSAY VPSVADILQI GWWATAAAWS ILQQFLLSLT
960 970 980 990 1000
FPRLLEAVEM EDDDFTASLS KQSCITEQTQ YFFDNDSKSF SGVLDCGNCS
1010 1020 1030 1040 1050
RIFHGEKLMN TNLIFIMVES KGTCPCDTRL LIQAEQTSDG PNPCDMVKQP
1060 1070 1080 1090 1100
RYRKGPDVCF DNNVLEDYTD CGGVSGLNPS LWYIIGIQFL LLWLVSGSTH

RLL
Length:1,103
Mass (Da):124,568
Last modified:November 3, 2009 - 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:i0749685DE9DB0700
GO
Isoform 2 (identifier: P54289-2) [UniParc]FASTAAdd to basket
Also known as: Alpha-2b

The sequence of this isoform differs from the canonical sequence as follows:
     531-549: Missing.
     644-644: Y → SKKGKMKD

Show »
Length:1,091
Mass (Da):123,183
Checksum:iDBD649BAC7871934
GO
Isoform 3 (identifier: P54289-3) [UniParc]FASTAAdd to basket
Also known as: Alpha-2c

The sequence of this isoform differs from the canonical sequence as follows:
     531-554: Missing.
     644-644: Y → SKKGKMKD

Show »
Length:1,086
Mass (Da):122,629
Checksum:i55B5E049C472FD0C
GO
Isoform 4 (identifier: P54289-4) [UniParc]FASTAAdd to basket
Also known as: Alpha-2d

The sequence of this isoform differs from the canonical sequence as follows:
     531-554: Missing.

Show »
Length:1,079
Mass (Da):121,889
Checksum:iAFC36093EB8EE8D3
GO
Isoform 5 (identifier: P54289-5) [UniParc]FASTAAdd to basket
Also known as: Alpha-2e

The sequence of this isoform differs from the canonical sequence as follows:
     531-549: Missing.

Show »
Length:1,084
Mass (Da):122,443
Checksum:i972A0FB832A88313
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ERK3E7ERK3_HUMAN
Voltage-dependent calcium channel s...
CACNA2D1
309Annotation 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>
H0Y715H0Y715_HUMAN
Voltage-dependent calcium channel s...
CACNA2D1
280Annotation 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 conflicti99R → S in AAA51903 (PubMed:1309651).Curated1
Sequence conflicti386T → R in AAA51903 (PubMed:1309651).Curated1
Sequence conflicti395D → E in AAA51903 (PubMed:1309651).Curated1
Sequence conflicti635L → I no nucleotide entry (PubMed:8107964).Curated1

Natural variant

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_0539601019E → D. Corresponds to variant dbSNP:rs9886043Ensembl.1
Natural variantiVAR_0350471057D → A. Corresponds to variant dbSNP:rs35131433Ensembl.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_038349531 – 554Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_038348531 – 549Missing in isoform 2 and isoform 5. 3 PublicationsAdd BLAST19
Alternative sequenceiVSP_038350644Y → SKKGKMKD in isoform 2 and isoform 3. 3 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M76559 mRNA Translation: AAA51903.1
CH471091 Genomic DNA Translation: EAW76990.1
BC117468 mRNA Translation: AAI17469.1
BC117470 mRNA Translation: AAI17471.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5598.1 [P54289-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
JH0565

NCBI Reference Sequences

More...
RefSeqi
NP_000713.2, NM_000722.3 [P54289-2]
XP_005250627.1, XM_005250570.2 [P54289-1]
XP_005250629.1, XM_005250572.2 [P54289-3]
XP_005250630.1, XM_005250573.2 [P54289-5]
XP_005250631.1, XM_005250574.2 [P54289-4]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.282151
Hs.592625
Hs.743228

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000356253; ENSP00000348589; ENSG00000153956 [P54289-1]
ENST00000356860; ENSP00000349320; ENSG00000153956 [P54289-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
781

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:781

UCSC genome browser

More...
UCSCi
uc003uhr.2 human [P54289-1]

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
M76559 mRNA Translation: AAA51903.1
CH471091 Genomic DNA Translation: EAW76990.1
BC117468 mRNA Translation: AAI17469.1
BC117470 mRNA Translation: AAI17471.1
CCDSiCCDS5598.1 [P54289-2]
PIRiJH0565
RefSeqiNP_000713.2, NM_000722.3 [P54289-2]
XP_005250627.1, XM_005250570.2 [P54289-1]
XP_005250629.1, XM_005250572.2 [P54289-3]
XP_005250630.1, XM_005250573.2 [P54289-5]
XP_005250631.1, XM_005250574.2 [P54289-4]
UniGeneiHs.282151
Hs.592625
Hs.743228

3D structure databases

ProteinModelPortaliP54289
SMRiP54289
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107235, 50 interactors
ComplexPortaliCPX-3192 Skeletal muscle VGCC complex
CPX-3195 Cardiac muscle VGCC complex
CORUMiP54289
IntActiP54289, 11 interactors
STRINGi9606.ENSP00000349320

Chemistry databases

BindingDBiP54289
ChEMBLiCHEMBL1919
DrugBankiDB00381 Amlodipine
DB04838 Cyclandelate
DB01023 Felodipine
DB00996 Gabapentin
DB00308 Ibutilide
DB00270 Isradipine
DB00653 Magnesium Sulfate
DB00622 Nicardipine
DB01115 Nifedipine
DB06712 Nilvadipine
DB00401 Nisoldipine
DB01054 Nitrendipine
DB00421 Spironolactone
DB04922 XP13512

Protein family/group databases

TCDBi8.A.18.1.1 the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family

PTM databases

GlyConnecti1895
iPTMnetiP54289
PhosphoSitePlusiP54289
SwissPalmiP54289

Polymorphism and mutation databases

BioMutaiCACNA2D1
DMDMi262527579

Proteomic databases

EPDiP54289
jPOSTiP54289
MaxQBiP54289
PaxDbiP54289
PeptideAtlasiP54289
PRIDEiP54289
ProteomicsDBi56675
56676 [P54289-2]
56677 [P54289-3]
56678 [P54289-4]
56679 [P54289-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356253; ENSP00000348589; ENSG00000153956 [P54289-1]
ENST00000356860; ENSP00000349320; ENSG00000153956 [P54289-2]
GeneIDi781
KEGGihsa:781
UCSCiuc003uhr.2 human [P54289-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
781
DisGeNETi781
EuPathDBiHostDB:ENSG00000153956.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CACNA2D1
GeneReviewsiCACNA2D1
HGNCiHGNC:1399 CACNA2D1
HPAiHPA008213
HPA008621
MalaCardsiCACNA2D1
MIMi114204 gene
neXtProtiNX_P54289
OpenTargetsiENSG00000153956
Orphaneti130 Brugada syndrome
51083 Familial short QT syndrome
PharmGKBiPA86

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2353 Eukaryota
ENOG410XPDX LUCA
GeneTreeiENSGT00940000155209
HOVERGENiHBG057779
InParanoidiP54289
KOiK04858
OMAiHIGWWAT
OrthoDBi1518030at2759
PhylomeDBiP54289
TreeFamiTF315824

Enzyme and pathway databases

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

Miscellaneous databases

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

More...
ChiTaRSi
CACNA2D1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CACNA2D1

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

More...
GenomeRNAii
781

Protein Ontology

More...
PROi
PR:P54289

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000153956 Expressed in 204 organ(s), highest expression level in biceps brachii
ExpressionAtlasiP54289 baseline and differential
GenevisibleiP54289 HS

Family and domain databases

Gene3Di3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR013680 VDCC_a2/dsu
IPR013608 VWA_N
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF08473 VGCC_alpha2, 1 hit
PF00092 VWA, 1 hit
PF08399 VWA_N, 1 hit
SMARTiView protein in SMART
SM00327 VWA, 1 hit
SUPFAMiSSF53300 SSF53300, 1 hit
PROSITEiView protein in PROSITE
PS50234 VWFA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCA2D1_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: P54289
Secondary accession number(s): Q17R45
, Q9UD80, Q9UD81, Q9UD82
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 3, 2009
Last modified: February 13, 2019
This is version 184 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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