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Q5RJF7

- CA2D4_MOUSE

UniProt

Q5RJF7 - CA2D4_MOUSE

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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

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

GO - Biological processi

  1. detection of light stimulus involved in visual perception Source: Ensembl
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini48 – 10941047ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1095 – 111521HelicalSequence AnalysisAdd
BLAST
Topological domaini1116 – 11161CytoplasmicSequence Analysis

GO - Cellular componenti

  1. voltage-gated calcium channel complex Source: Ensembl
Complete GO annotation...

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

BgeeiQ5RJF7.
ExpressionAtlasiQ5RJF7. baseline and differential.
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...

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

        10         20         30         40         50
MARCPMLSSS HNQDHSGRWT AVWTSLWKTP IILWLLLSDT SLPTVRGQTT
60 70 80 90 100
VPLETVKLWA DTFGRNLYNT VTRYSGSLLL QKKYKDAEPS LKIKEVDGLE
110 120 130 140 150
LVKKFSEDME TMLRRKVEAV ESLVEAAEEA DLNHEFNASL VFNYYNSVLI
160 170 180 190 200
NEKDDKGNYV ELGAEFLLES DAHFSNLRVN VSMSSVQLPT NVYNKDPDIL
210 220 230 240 250
NGVYMSEALN PVFVENFQRD PTLTWQYFGS STGFFRIYPG IKWMPDENGV
260 270 280 290 300
IAFDCRNRGW YIQAATSPKD IVILVDISGS MKGLRMAIAK HTITTILDTL
310 320 330 340 350
GENDFVNIIA YNDYVHYIEP CFKGILVQAD RDNREHFKQL VDELMVKGVG
360 370 380 390 400
VVSQALIEAF EILKQFQESK QGSLCNQAIM LITDGAVEDY EPVFETYNWP
410 420 430 440 450
DRKVRVFTYL IGREVTFADR MKWIACNNKG YYTQISTLAD AQESVMEYLH
460 470 480 490 500
VLSRPMVINH DHDIIWTEAY MDSRLFTSEA QSLMLLTTVA MPVFSKKNET
510 520 530 540 550
RSHGILLGVV GSDVTLRELM KLAPRYKLGV HGYAFLNTNN GYILSHPDLR
560 570 580 590 600
PLYREGKKLR PKPNYNSVDL SEVEWEDQAE ILRTAMINGE TGSHSMDVKV
610 620 630 640 650
PLDKGKRVLF LTNDYFFTDI SDTPFSLGVV LTRGHGEYIL LGNTSVEEGL
660 670 680 690 700
HDLLHPDLTL ASDWIYCITD IDPDHRKLSQ LEAVVRFLTG VDPDLECDEE
710 720 730 740 750
LVREVLFDAV VTAPMEAYWT ALALNISEES EPGVDVAFLG TRAGLLRRSL
760 770 780 790 800
FVGSEKVSDR KFLTPEDEAS IFTMDHFPLW YRQASEQPPG SFVFNLRWAE
810 820 830 840 850
GPDSPGKPVA VRASTAVTVT VDGKTAIAAA VGIQMQADYL QRQFWAAMQQ
860 870 880 890 900
CNAVEGPCLK SCEDTDLDCF VIDNNGFVLI SERPQEMGRL LGEADGALMK
910 920 930 940 950
QLLSMGVFSR VTMYDYQAMC KPPDHHHSAA ESLFSPLSAF LMVARWLLHE
960 970 980 990 1000
CLLFLLEWSA WGSWQDKGSE AKSVFHHSHK HKKQDLLHPC DTEYPVFVHQ
1010 1020 1030 1040 1050
TAIQEANGII ECGGCQKTFV MQQIPRSNLL LLVTDRTCDC SAHSPILQEA
1060 1070 1080 1090 1100
TEVKYNASVK CDRMRSQKPR RRPGSCHAFH PEENAQDCGG ASDTLPSSPL
1110
LLLSLGAWLL PPQLLW
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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

NextBioi 395288.
PROi Q5RJF7.
SOURCEi Search...

Gene expression databases

Bgeei Q5RJF7.
ExpressionAtlasi Q5RJF7. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 69 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