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P54289

- CA2D1_HUMAN

UniProt

P54289 - CA2D1_HUMAN

Protein

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

Gene

CACNA2D1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 3 (03 Nov 2009)
      Previous versions | rss
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    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

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi259 – 2591Divalent metal cationBy similarity
    Metal bindingi261 – 2611Divalent metal cationBy similarity
    Metal bindingi263 – 2631Divalent metal cationBy similarity

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. voltage-gated calcium channel activity Source: BHF-UCL

    GO - Biological processi

    1. calcium ion transport Source: UniProtKB
    2. regulation of calcium ion transport Source: BHF-UCL

    Keywords - Molecular functioni

    Calcium channel, Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Calcium transport, Ion transport, Transport

    Keywords - Ligandi

    Calcium, Metal-binding

    Protein family/group databases

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

    Names & Taxonomyi

    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:
    Gene namesi
    Name:CACNA2D1
    Synonyms:CACNL2A, CCHL2A, MHS3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:1399. CACNA2D1.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. sarcoplasmic reticulum Source: Ensembl
    3. T-tubule Source: Ensembl
    4. voltage-gated calcium channel complex Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti51083. Familial short QT syndrome.
    PharmGKBiPA86.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Sequence AnalysisAdd
    BLAST
    Chaini25 – 11031079Voltage-dependent calcium channel subunit alpha-2/delta-1PRO_0000304633Add
    BLAST
    Chaini25 – 956932Voltage-dependent calcium channel subunit alpha-2-1By similarityPRO_0000005001Add
    BLAST
    Chaini957 – 1103147Voltage-dependent calcium channel subunit delta-1By similarityPRO_0000005002Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi92 – 921N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi136 – 1361N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi184 – 1841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi324 – 3241N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi348 – 3481N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi404 ↔ 1059Interchain (between alpha-2-1 and delta-1 chains)
    Glycosylationi468 – 4681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi475 – 4751N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi604 – 6041N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi613 – 6131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi675 – 6751N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi781 – 7811N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi824 – 8241N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi888 – 8881N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi895 – 8951N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi985 – 9851N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi998 – 9981N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

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

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiP54289.
    PaxDbiP54289.
    PRIDEiP54289.

    PTM databases

    PhosphoSiteiP54289.

    Expressioni

    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

    ArrayExpressiP54289.
    BgeeiP54289.
    CleanExiHS_CACNA2D1.
    GenevestigatoriP54289.

    Organism-specific databases

    HPAiHPA008213.
    HPA008621.

    Interactioni

    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

    BioGridi107235. 4 interactions.
    STRINGi9606.ENSP00000349320.

    Structurei

    3D structure databases

    ProteinModelPortaliP54289.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini25 – 10731049ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1095 – 11039CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1074 – 109421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini253 – 430178VWFAPROSITE-ProRule annotationAdd
    BLAST
    Domaini446 – 556111CacheAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi259 – 2635MIDAS-like motif

    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

    Sequence similaritiesi

    Contains 1 cache domain.Curated
    Contains 1 VWFA domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG307080.
    HOVERGENiHBG057779.
    KOiK04858.
    OMAiDDYTNQI.
    OrthoDBiEOG70GMDV.
    PhylomeDBiP54289.
    TreeFamiTF315824.

    Family and domain databases

    Gene3Di3.40.50.410. 1 hit.
    InterProiIPR004010. Cache_domain.
    IPR013680. VDCC_a2/dsu.
    IPR013608. VWA_N.
    IPR002035. VWF_A.
    [Graphical view]
    PfamiPF02743. Cache_1. 1 hit.
    PF08473. VGCC_alpha2. 1 hit.
    PF00092. VWA. 1 hit.
    PF08399. VWA_N. 1 hit.
    [Graphical view]
    SMARTiSM00327. VWA. 1 hit.
    [Graphical view]
    SUPFAMiSSF53300. SSF53300. 1 hit.
    PROSITEiPS50234. VWFA. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    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

    MAAGCLLALT LTLFQSLLIG PSSEEPFPSA VTIKSWVDKM QEDLVTLAKT     50
    ASGVNQLVDI YEKYQDLYTV EPNNARQLVE IAARDIEKLL SNRSKALVRL 100
    ALEAEKVQAA HQWREDFASN EVVYYNAKDD LDPEKNDSEP GSQRIKPVFI 150
    EDANFGRQIS YQHAAVHIPT DIYEGSTIVL NELNWTSALD EVFKKNREED 200
    PSLLWQVFGS ATGLARYYPA SPWVDNSRTP NKIDLYDVRR RPWYIQGAAS 250
    PKDMLILVDV SGSVSGLTLK LIRTSVSEML ETLSDDDFVN VASFNSNAQD 300
    VSCFQHLVQA NVRNKKVLKD AVNNITAKGI TDYKKGFSFA FEQLLNYNVS 350
    RANCNKIIML FTDGGEERAQ EIFNKYNKDK KVRVFTFSVG QHNYDRGPIQ 400
    WMACENKGYY YEIPSIGAIR INTQEYLDVL GRPMVLAGDK AKQVQWTNVY 450
    LDALELGLVI TGTLPVFNIT GQFENKTNLK NQLILGVMGV DVSLEDIKRL 500
    TPRFTLCPNG YYFAIDPNGY VLLHPNLQPK PIGVGIPTIN LRKRRPNIQN 550
    PKSQEPVTLD FLDAELENDI KVEIRNKMID GESGEKTFRT LVKSQDERYI 600
    DKGNRTYTWT PVNGTDYSLA LVLPTYSFYY IKAKLEETIT QARYSETLKP 650
    DNFEESGYTF IAPRDYCNDL KISDNNTEFL LNFNEFIDRK TPNNPSCNAD 700
    LINRVLLDAG FTNELVQNYW SKQKNIKGVK ARFVVTDGGI TRVYPKEAGE 750
    NWQENPETYE DSFYKRSLDN DNYVFTAPYF NKSGPGAYES GIMVSKAVEI 800
    YIQGKLLKPA VVGIKIDVNS WIENFTKTSI RDPCAGPVCD CKRNSDVMDC 850
    VILDDGGFLL MANHDDYTNQ IGRFFGEIDP SLMRHLVNIS VYAFNKSYDY 900
    QSVCEPGAAP KQGAGHRSAY VPSVADILQI GWWATAAAWS ILQQFLLSLT 950
    FPRLLEAVEM EDDDFTASLS KQSCITEQTQ YFFDNDSKSF SGVLDCGNCS 1000
    RIFHGEKLMN TNLIFIMVES KGTCPCDTRL LIQAEQTSDG PNPCDMVKQP 1050
    RYRKGPDVCF DNNVLEDYTD CGGVSGLNPS LWYIIGIQFL LLWLVSGSTH 1100
    RLL 1103
    Length:1,103
    Mass (Da):124,568
    Last modified:November 3, 2009 - v3
    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti99 – 991R → S in AAA51903. (PubMed:1309651)Curated
    Sequence conflicti386 – 3861T → R in AAA51903. (PubMed:1309651)Curated
    Sequence conflicti395 – 3951D → E in AAA51903. (PubMed:1309651)Curated
    Sequence conflicti635 – 6351L → I no nucleotide entry (PubMed:8107964)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1019 – 10191E → D.
    Corresponds to variant rs9886043 [ dbSNP | Ensembl ].
    VAR_053960
    Natural varianti1057 – 10571D → A.
    Corresponds to variant rs35131433 [ dbSNP | Ensembl ].
    VAR_035047

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei531 – 55424Missing in isoform 3 and isoform 4. 1 PublicationVSP_038349Add
    BLAST
    Alternative sequencei531 – 54919Missing in isoform 2 and isoform 5. 3 PublicationsVSP_038348Add
    BLAST
    Alternative sequencei644 – 6441Y → SKKGKMKD in isoform 2 and isoform 3. 3 PublicationsVSP_038350

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_000722.2. [P54289-2]
    XP_005250627.1. XM_005250570.1. [P54289-1]
    XP_005250629.1. XM_005250572.1. [P54289-3]
    XP_005250630.1. XM_005250573.1. [P54289-5]
    XP_005250631.1. XM_005250574.1. [P54289-4]
    UniGeneiHs.282151.
    Hs.743228.

    Genome annotation databases

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

    Polymorphism databases

    DMDMi262527579.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M76559 mRNA. Translation: AAA51903.1 .
    CH471091 Genomic DNA. Translation: EAW76990.1 .
    BC117468 mRNA. Translation: AAI17469.1 .
    BC117470 mRNA. Translation: AAI17471.1 .
    CCDSi CCDS5598.1. [P54289-2 ]
    PIRi JH0565.
    RefSeqi NP_000713.2. NM_000722.2. [P54289-2 ]
    XP_005250627.1. XM_005250570.1. [P54289-1 ]
    XP_005250629.1. XM_005250572.1. [P54289-3 ]
    XP_005250630.1. XM_005250573.1. [P54289-5 ]
    XP_005250631.1. XM_005250574.1. [P54289-4 ]
    UniGenei Hs.282151.
    Hs.743228.

    3D structure databases

    ProteinModelPortali P54289.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107235. 4 interactions.
    STRINGi 9606.ENSP00000349320.

    Chemistry

    BindingDBi P54289.
    ChEMBLi CHEMBL1919.
    DrugBanki DB01023. Felodipine.
    DB00996. Gabapentin.
    DB00308. Ibutilide.
    DB00270. Isradipine.
    DB00653. Magnesium Sulfate.
    DB01115. Nifedipine.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei P54289.

    Polymorphism databases

    DMDMi 262527579.

    Proteomic databases

    MaxQBi P54289.
    PaxDbi P54289.
    PRIDEi P54289.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000356253 ; ENSP00000348589 ; ENSG00000153956 . [P54289-1 ]
    ENST00000356860 ; ENSP00000349320 ; ENSG00000153956 . [P54289-2 ]
    GeneIDi 781.
    KEGGi hsa:781.
    UCSCi uc003uhr.1. human. [P54289-2 ]

    Organism-specific databases

    CTDi 781.
    GeneCardsi GC07M081575.
    HGNCi HGNC:1399. CACNA2D1.
    HPAi HPA008213.
    HPA008621.
    MIMi 114204. gene.
    neXtProti NX_P54289.
    Orphaneti 51083. Familial short QT syndrome.
    PharmGKBi PA86.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG307080.
    HOVERGENi HBG057779.
    KOi K04858.
    OMAi DDYTNQI.
    OrthoDBi EOG70GMDV.
    PhylomeDBi P54289.
    TreeFami TF315824.

    Miscellaneous databases

    GeneWikii CACNA2D1.
    GenomeRNAii 781.
    NextBioi 3160.
    PROi P54289.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P54289.
    Bgeei P54289.
    CleanExi HS_CACNA2D1.
    Genevestigatori P54289.

    Family and domain databases

    Gene3Di 3.40.50.410. 1 hit.
    InterProi IPR004010. Cache_domain.
    IPR013680. VDCC_a2/dsu.
    IPR013608. VWA_N.
    IPR002035. VWF_A.
    [Graphical view ]
    Pfami PF02743. Cache_1. 1 hit.
    PF08473. VGCC_alpha2. 1 hit.
    PF00092. VWA. 1 hit.
    PF08399. VWA_N. 1 hit.
    [Graphical view ]
    SMARTi SM00327. VWA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53300. SSF53300. 1 hit.
    PROSITEi PS50234. VWFA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype."
      Williams M.E., Feldman D.H., McCue A.F., Brenner R., Velicelebi G., Ellis S.B., Harpold M.M.
      Neuron 8:71-84(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Cerebellum.
    4. "Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly."
      Brust P.F., Simerson S., McCue A.F., Deal C.R., Schoonmaker S., Williams M.E., Velicelebi G., Johnson E.C., Harpold M.M., Ellis S.B.
      Neuropharmacology 32:1089-1102(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 528-648 (ISOFORMS 1; 2; 3; 4 AND 5), TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
      Tissue: Neuroblastoma.
    5. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
      J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-136; ASN-324 AND ASN-675.
      Tissue: Plasma.
    6. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-348; ASN-475 AND ASN-824.
      Tissue: Liver.
    7. "Identification of a disulfide bridge essential for structure and function of the voltage-gated Ca(2+) channel alpha(2)delta-1 auxiliary subunit."
      Calderon-Rivera A., Andrade A., Hernandez-Hernandez O., Gonzalez-Ramirez R., Sandoval A., Rivera M., Gomora J.C., Felix R.
      Cell Calcium 51:22-30(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERCHAIN DISULFIDE BOND, SUBUNIT.

    Entry informationi

    Entry nameiCA2D1_HUMAN
    AccessioniPrimary (citable) accession number: P54289
    Secondary accession number(s): Q17R45
    , Q9UD80, Q9UD81, Q9UD82
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: November 3, 2009
    Last modified: October 1, 2014
    This is version 143 of the entry and version 3 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Miscellaneous

    Binds gabapentin, an antiepileptic drug.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3