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Q5RJF7

- CA2D4_MOUSE

UniProt

Q5RJF7 - CA2D4_MOUSE

Protein

Voltage-dependent calcium channel subunit alpha-2/delta-4

Gene

Cacna2d4

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 67 (01 Oct 2014)
      Sequence version 1 (21 Dec 2004)
      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.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi276 – 2761Divalent metal cationBy similarity
    Metal bindingi278 – 2781Divalent metal cationBy similarity
    Metal bindingi280 – 2801Divalent metal cationBy similarity

    GO - Molecular functioni

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

    Keywords - Molecular functioni

    Calcium channel, Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Calcium transport, Ion transport, Transport

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Voltage-dependent calcium channel subunit alpha-2/delta-4
    Alternative name(s):
    Voltage-gated calcium channel subunit alpha-2/delta-4
    Cleaved into the following 2 chains:
    Gene namesi
    Name:Cacna2d4
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Unplaced

    Organism-specific databases

    MGIiMGI:2442632. Cacna2d4.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Cacna2d4 are a cause of cone-rod dysfunction. Mice display affected retinal ribbon-type synapses. The retinopathy is accompanied by a substantial loss in the activities of the second-order neurons. Rod photoreceptor responses are maintained with reduced amplitude, whereas cone activities are absent.

    Keywords - Diseasei

    Cone-rod dystrophy

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 4747Sequence AnalysisAdd
    BLAST
    Chaini48 – 11161069Voltage-dependent calcium channel subunit alpha-2/delta-4PRO_0000304658Add
    BLAST
    Chaini48 – 970923Voltage-dependent calcium channel subunit alpha-2-4Sequence AnalysisPRO_0000304659Add
    BLAST
    Chaini971 – 1116146Voltage-dependent calcium channel subunit delta-4Sequence AnalysisPRO_0000304660Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi180 – 1801N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi426 ↔ 1076Interchain (between alpha-2-4 and delta-4 chains)By similarity
    Glycosylationi643 – 6431N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi725 – 7251N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    May be proteolytically processed into subunits alpha-2-4 and delta-4 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role By similarity.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PRIDEiQ5RJF7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ5RJF7.
    BgeeiQ5RJF7.
    GenevestigatoriQ5RJF7.

    Interactioni

    Subunit structurei

    Dimer formed of alpha-2-2 and delta-2 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 Probable. Interacts with CACNA1C and CACNB3 By similarity.By similarityCurated

    Structurei

    3D structure databases

    ProteinModelPortaliQ5RJF7.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini48 – 10941047ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1116 – 11161CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1095 – 111521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini270 – 452183VWFAPROSITE-ProRule annotationAdd
    BLAST
    Domaini466 – 55994CacheAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi276 – 2805MIDAS-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.
    HOGENOMiHOG000010247.
    HOVERGENiHBG107124.
    InParanoidiQ5RJF7.
    KOiK04861.
    PhylomeDBiQ5RJF7.

    Family and domain databases

    Gene3Di3.40.50.410. 1 hit.
    InterProiIPR004010. Cache_domain.
    IPR013608. VWA_N.
    IPR002035. VWF_A.
    [Graphical view]
    PfamiPF02743. Cache_1. 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 (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5RJF7-1) [UniParc]FASTAAdd to Basket

    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

    MARCPMLSSS HNQDHSGRWT AVWTSLWKTP IILWLLLSDT SLPTVRGQTT     50
    VPLETVKLWA DTFGRNLYNT VTRYSGSLLL QKKYKDAEPS LKIKEVDGLE 100
    LVKKFSEDME TMLRRKVEAV ESLVEAAEEA DLNHEFNASL VFNYYNSVLI 150
    NEKDDKGNYV ELGAEFLLES DAHFSNLRVN VSMSSVQLPT NVYNKDPDIL 200
    NGVYMSEALN PVFVENFQRD PTLTWQYFGS STGFFRIYPG IKWMPDENGV 250
    IAFDCRNRGW YIQAATSPKD IVILVDISGS MKGLRMAIAK HTITTILDTL 300
    GENDFVNIIA YNDYVHYIEP CFKGILVQAD RDNREHFKQL VDELMVKGVG 350
    VVSQALIEAF EILKQFQESK QGSLCNQAIM LITDGAVEDY EPVFETYNWP 400
    DRKVRVFTYL IGREVTFADR MKWIACNNKG YYTQISTLAD AQESVMEYLH 450
    VLSRPMVINH DHDIIWTEAY MDSRLFTSEA QSLMLLTTVA MPVFSKKNET 500
    RSHGILLGVV GSDVTLRELM KLAPRYKLGV HGYAFLNTNN GYILSHPDLR 550
    PLYREGKKLR PKPNYNSVDL SEVEWEDQAE ILRTAMINGE TGSHSMDVKV 600
    PLDKGKRVLF LTNDYFFTDI SDTPFSLGVV LTRGHGEYIL LGNTSVEEGL 650
    HDLLHPDLTL ASDWIYCITD IDPDHRKLSQ LEAVVRFLTG VDPDLECDEE 700
    LVREVLFDAV VTAPMEAYWT ALALNISEES EPGVDVAFLG TRAGLLRRSL 750
    FVGSEKVSDR KFLTPEDEAS IFTMDHFPLW YRQASEQPPG SFVFNLRWAE 800
    GPDSPGKPVA VRASTAVTVT VDGKTAIAAA VGIQMQADYL QRQFWAAMQQ 850
    CNAVEGPCLK SCEDTDLDCF VIDNNGFVLI SERPQEMGRL LGEADGALMK 900
    QLLSMGVFSR VTMYDYQAMC KPPDHHHSAA ESLFSPLSAF LMVARWLLHE 950
    CLLFLLEWSA WGSWQDKGSE AKSVFHHSHK HKKQDLLHPC DTEYPVFVHQ 1000
    TAIQEANGII ECGGCQKTFV MQQIPRSNLL LLVTDRTCDC SAHSPILQEA 1050
    TEVKYNASVK CDRMRSQKPR RRPGSCHAFH PEENAQDCGG ASDTLPSSPL 1100
    LLLSLGAWLL PPQLLW 1116
    Length:1,116
    Mass (Da):125,991
    Last modified:December 21, 2004 - v1
    Checksum:i731AE2A4B090B143
    GO
    Isoform 2 (identifier: Q5RJF7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         528-552: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,091
    Mass (Da):123,226
    Checksum:iC58AF6217F1C9AA9
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei528 – 55225Missing in isoform 2. CuratedVSP_044323Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC115816 Genomic DNA. No translation available.
    BK005394 mRNA. Translation: DAA05529.1.
    RefSeqiNP_001028554.2. NM_001033382.2.
    UniGeneiMm.440773.

    Genome annotation databases

    GeneIDi319734.
    KEGGimmu:319734.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC115816 Genomic DNA. No translation available.
    BK005394 mRNA. Translation: DAA05529.1 .
    RefSeqi NP_001028554.2. NM_001033382.2.
    UniGenei Mm.440773.

    3D structure databases

    ProteinModelPortali Q5RJF7.
    ModBasei Search...
    MobiDBi Search...

    Proteomic databases

    PRIDEi Q5RJF7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 319734.
    KEGGi mmu:319734.

    Organism-specific databases

    CTDi 93589.
    MGIi MGI:2442632. Cacna2d4.

    Phylogenomic databases

    eggNOGi NOG307080.
    HOGENOMi HOG000010247.
    HOVERGENi HBG107124.
    InParanoidi Q5RJF7.
    KOi K04861.
    PhylomeDBi Q5RJF7.

    Miscellaneous databases

    ChiTaRSi CACNA2D4. mouse.
    NextBioi 395288.
    PROi Q5RJF7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5RJF7.
    Bgeei Q5RJF7.
    Genevestigatori Q5RJF7.

    Family and domain databases

    Gene3Di 3.40.50.410. 1 hit.
    InterProi IPR004010. Cache_domain.
    IPR013608. VWA_N.
    IPR002035. VWF_A.
    [Graphical view ]
    Pfami PF02743. Cache_1. 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    2. "The Ca2+ channel alpha2delta-1 subunit determines Ca2+ current kinetics in skeletal muscle but not targeting of alpha1S or excitation-contraction coupling."
      Obermair G.J., Kugler G., Baumgartner S., Tuluc P., Grabner M., Flucher B.E.
      J. Biol. Chem. 280:2229-2237(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.
    3. "Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation."
      Wycisk K.A., Budde B., Feil S., Skosyrski S., Buzzi F., Neidhardt J., Glaus E., Nurnberg P., Ruether K., Berger W.
      Invest. Ophthalmol. Vis. Sci. 47:3523-3530(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CONE-ROD DYSFUNCTION.

    Entry informationi

    Entry nameiCA2D4_MOUSE
    AccessioniPrimary (citable) accession number: Q5RJF7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: December 21, 2004
    Last modified: October 1, 2014
    This is version 67 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3