P54289 (CA2D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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:

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

Gene names

Name:	CACNA2D1
Synonyms:	CACNL2A, CCHL2A, MHS3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1103 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Subunit structure	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.
Subcellular location	Membrane; Single-pass type I membrane protein Potential.
Tissue specificity	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. Ref.1 Ref.4
Domain	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.
Post-translational modification	Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked By similarity.
Miscellaneous	Binds gabapentin, an antiepileptic drug.
Sequence similarities	Belongs to the calcium channel subunit alpha-2/delta family. Contains 1 cache domain. Contains 1 VWFA domain.

Ontologies

Keywords
Biological process	Calcium transport Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Ligand	Calcium Metal-binding
Molecular function	Calcium channel Ion channel Voltage-gated channel
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of calcium ion transport Inferred from direct assay Ref.1. Source: BHF-UCL
Cellular_component	T-tubule Inferred from electronic annotation. Source: Compara sarcoplasmic reticulum Inferred from electronic annotation. Source: Compara voltage-gated calcium channel complex Inferred from direct assay PubMed 11160515. Source: UniProtKB
Molecular_function	metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW voltage-gated calcium channel activity Inferred from direct assay Ref.1. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P54289-1)

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.

Isoform 2 (identifier: P54289-2)

Also known as: Alpha-2b;

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

Isoform 3 (identifier: P54289-3)

Also known as: Alpha-2c;

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

Isoform 4 (identifier: P54289-4)

Also known as: Alpha-2d;

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

Isoform 5 (identifier: P54289-5)

Also known as: Alpha-2e;

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 24	24	Potential
	Chain	25 – 1103	1079	Voltage-dependent calcium channel subunit alpha-2/delta-1		PRO_0000304633
	Chain	25 – 956	932	Voltage-dependent calcium channel subunit alpha-2-1 By similarity		PRO_0000005001
	Chain	957 – 1103	147	Voltage-dependent calcium channel subunit delta-1 By similarity		PRO_0000005002
Regions
	Topological domain	25 – 1073	1049	Extracellular Potential
	Transmembrane	1074 – 1094	21	Helical; Potential
	Topological domain	1095 – 1103	9	Cytoplasmic Potential
	Domain	253 – 430	178	VWFA
	Domain	446 – 556	111	Cache
	Motif	259 – 263	5	MIDAS-like motif
Sites
	Metal binding	259	1	Divalent metal cation By similarity
	Metal binding	261	1	Divalent metal cation By similarity
	Metal binding	263	1	Divalent metal cation By similarity
Amino acid modifications
	Glycosylation	92	1	N-linked (GlcNAc...) Potential
	Glycosylation	136	1	N-linked (GlcNAc...) Potential
	Glycosylation	184	1	N-linked (GlcNAc...) Potential
	Glycosylation	324	1	N-linked (GlcNAc...) Potential
	Glycosylation	348	1	N-linked (GlcNAc...) Potential
	Glycosylation	468	1	N-linked (GlcNAc...) Potential
	Glycosylation	475	1	N-linked (GlcNAc...) Potential
	Glycosylation	604	1	N-linked (GlcNAc...) Potential
	Glycosylation	613	1	N-linked (GlcNAc...) Potential
	Glycosylation	675	1	N-linked (GlcNAc...) Potential
	Glycosylation	781	1	N-linked (GlcNAc...) Potential
	Glycosylation	824	1	N-linked (GlcNAc...) Potential
	Glycosylation	888	1	N-linked (GlcNAc...) Potential
	Glycosylation	895	1	N-linked (GlcNAc...) Potential
	Glycosylation	985	1	N-linked (GlcNAc...) Potential
	Glycosylation	998	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	531 – 554	24	Missing in isoform 3 and isoform 4.		VSP_038349
	Alternative sequence	531 – 549	19	Missing in isoform 2 and isoform 5.		VSP_038348
	Alternative sequence	644	1	Y → SKKGKMKD in isoform 2 and isoform 3.		VSP_038350
	Natural variant	1019	1	E → D. Corresponds to variant rs9886043 [ dbSNP | Ensembl ].		VAR_053960
	Natural variant	1057	1	D → A. Corresponds to variant rs35131433 [ dbSNP | Ensembl ].		VAR_035047
Experimental info
	Sequence conflict	99	1	R → S in AAA51903. Ref.1
	Sequence conflict	386	1	T → R in AAA51903. Ref.1
	Sequence conflict	395	1	D → E in AAA51903. Ref.1
	Sequence conflict	635	1	L → I no nucleotide entry Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Alpha-2a) [UniParc]. Last modified November 3, 2009. Version 3. Checksum: 0749685DE9DB0700	FASTA	1,103	124,568
	10 20 30 40 50 60 MAAGCLLALT LTLFQSLLIG PSSEEPFPSA VTIKSWVDKM QEDLVTLAKT ASGVNQLVDI 70 80 90 100 110 120 YEKYQDLYTV EPNNARQLVE IAARDIEKLL SNRSKALVRL ALEAEKVQAA HQWREDFASN 130 140 150 160 170 180 EVVYYNAKDD LDPEKNDSEP GSQRIKPVFI EDANFGRQIS YQHAAVHIPT DIYEGSTIVL 190 200 210 220 230 240 NELNWTSALD EVFKKNREED PSLLWQVFGS ATGLARYYPA SPWVDNSRTP NKIDLYDVRR 250 260 270 280 290 300 RPWYIQGAAS PKDMLILVDV SGSVSGLTLK LIRTSVSEML ETLSDDDFVN VASFNSNAQD 310 320 330 340 350 360 VSCFQHLVQA NVRNKKVLKD AVNNITAKGI TDYKKGFSFA FEQLLNYNVS RANCNKIIML 370 380 390 400 410 420 FTDGGEERAQ EIFNKYNKDK KVRVFTFSVG QHNYDRGPIQ WMACENKGYY YEIPSIGAIR 430 440 450 460 470 480 INTQEYLDVL GRPMVLAGDK AKQVQWTNVY LDALELGLVI TGTLPVFNIT GQFENKTNLK 490 500 510 520 530 540 NQLILGVMGV DVSLEDIKRL TPRFTLCPNG YYFAIDPNGY VLLHPNLQPK PIGVGIPTIN 550 560 570 580 590 600 LRKRRPNIQN PKSQEPVTLD FLDAELENDI KVEIRNKMID GESGEKTFRT LVKSQDERYI 610 620 630 640 650 660 DKGNRTYTWT PVNGTDYSLA LVLPTYSFYY IKAKLEETIT QARYSETLKP DNFEESGYTF 670 680 690 700 710 720 IAPRDYCNDL KISDNNTEFL LNFNEFIDRK TPNNPSCNAD LINRVLLDAG FTNELVQNYW 730 740 750 760 770 780 SKQKNIKGVK ARFVVTDGGI TRVYPKEAGE NWQENPETYE DSFYKRSLDN DNYVFTAPYF 790 800 810 820 830 840 NKSGPGAYES GIMVSKAVEI YIQGKLLKPA VVGIKIDVNS WIENFTKTSI RDPCAGPVCD 850 860 870 880 890 900 CKRNSDVMDC VILDDGGFLL MANHDDYTNQ IGRFFGEIDP SLMRHLVNIS VYAFNKSYDY 910 920 930 940 950 960 QSVCEPGAAP KQGAGHRSAY VPSVADILQI GWWATAAAWS ILQQFLLSLT FPRLLEAVEM 970 980 990 1000 1010 1020 EDDDFTASLS KQSCITEQTQ YFFDNDSKSF SGVLDCGNCS RIFHGEKLMN TNLIFIMVES 1030 1040 1050 1060 1070 1080 KGTCPCDTRL LIQAEQTSDG PNPCDMVKQP RYRKGPDVCF DNNVLEDYTD CGGVSGLNPS 1090 1100 LWYIIGIQFL LLWLVSGSTH RLL
	Isoform 2 (Alpha-2b) [UniParc]. Checksum: DBD649BAC7871934	FASTA	1,091	123,183
	10 20 30 40 50 60 MAAGCLLALT LTLFQSLLIG PSSEEPFPSA VTIKSWVDKM QEDLVTLAKT ASGVNQLVDI 70 80 90 100 110 120 YEKYQDLYTV EPNNARQLVE IAARDIEKLL SNRSKALVRL ALEAEKVQAA HQWREDFASN 130 140 150 160 170 180 EVVYYNAKDD LDPEKNDSEP GSQRIKPVFI EDANFGRQIS YQHAAVHIPT DIYEGSTIVL 190 200 210 220 230 240 NELNWTSALD EVFKKNREED PSLLWQVFGS ATGLARYYPA SPWVDNSRTP NKIDLYDVRR 250 260 270 280 290 300 RPWYIQGAAS PKDMLILVDV SGSVSGLTLK LIRTSVSEML ETLSDDDFVN VASFNSNAQD 310 320 330 340 350 360 VSCFQHLVQA NVRNKKVLKD AVNNITAKGI TDYKKGFSFA FEQLLNYNVS RANCNKIIML 370 380 390 400 410 420 FTDGGEERAQ EIFNKYNKDK KVRVFTFSVG QHNYDRGPIQ WMACENKGYY YEIPSIGAIR 430 440 450 460 470 480 INTQEYLDVL GRPMVLAGDK AKQVQWTNVY LDALELGLVI TGTLPVFNIT GQFENKTNLK 490 500 510 520 530 540 NQLILGVMGV DVSLEDIKRL TPRFTLCPNG YYFAIDPNGY VLLHPNLQPK NPKSQEPVTL 550 560 570 580 590 600 DFLDAELEND IKVEIRNKMI DGESGEKTFR TLVKSQDERY IDKGNRTYTW TPVNGTDYSL 610 620 630 640 650 660 ALVLPTYSFY YIKAKLEETI TQARSKKGKM KDSETLKPDN FEESGYTFIA PRDYCNDLKI 670 680 690 700 710 720 SDNNTEFLLN FNEFIDRKTP NNPSCNADLI NRVLLDAGFT NELVQNYWSK QKNIKGVKAR 730 740 750 760 770 780 FVVTDGGITR VYPKEAGENW QENPETYEDS FYKRSLDNDN YVFTAPYFNK SGPGAYESGI 790 800 810 820 830 840 MVSKAVEIYI QGKLLKPAVV GIKIDVNSWI ENFTKTSIRD PCAGPVCDCK RNSDVMDCVI 850 860 870 880 890 900 LDDGGFLLMA NHDDYTNQIG RFFGEIDPSL MRHLVNISVY AFNKSYDYQS VCEPGAAPKQ 910 920 930 940 950 960 GAGHRSAYVP SVADILQIGW WATAAAWSIL QQFLLSLTFP RLLEAVEMED DDFTASLSKQ 970 980 990 1000 1010 1020 SCITEQTQYF FDNDSKSFSG VLDCGNCSRI FHGEKLMNTN LIFIMVESKG TCPCDTRLLI 1030 1040 1050 1060 1070 1080 QAEQTSDGPN PCDMVKQPRY RKGPDVCFDN NVLEDYTDCG GVSGLNPSLW YIIGIQFLLL 1090 WLVSGSTHRL L
	Isoform 3 (Alpha-2c) [UniParc]. Checksum: 55B5E049C472FD0C	FASTA	1,086	122,629
	10 20 30 40 50 60 MAAGCLLALT LTLFQSLLIG PSSEEPFPSA VTIKSWVDKM QEDLVTLAKT ASGVNQLVDI 70 80 90 100 110 120 YEKYQDLYTV EPNNARQLVE IAARDIEKLL SNRSKALVRL ALEAEKVQAA HQWREDFASN 130 140 150 160 170 180 EVVYYNAKDD LDPEKNDSEP GSQRIKPVFI EDANFGRQIS YQHAAVHIPT DIYEGSTIVL 190 200 210 220 230 240 NELNWTSALD EVFKKNREED PSLLWQVFGS ATGLARYYPA SPWVDNSRTP NKIDLYDVRR 250 260 270 280 290 300 RPWYIQGAAS PKDMLILVDV SGSVSGLTLK LIRTSVSEML ETLSDDDFVN VASFNSNAQD 310 320 330 340 350 360 VSCFQHLVQA NVRNKKVLKD AVNNITAKGI TDYKKGFSFA FEQLLNYNVS RANCNKIIML 370 380 390 400 410 420 FTDGGEERAQ EIFNKYNKDK KVRVFTFSVG QHNYDRGPIQ WMACENKGYY YEIPSIGAIR 430 440 450 460 470 480 INTQEYLDVL GRPMVLAGDK AKQVQWTNVY LDALELGLVI TGTLPVFNIT GQFENKTNLK 490 500 510 520 530 540 NQLILGVMGV DVSLEDIKRL TPRFTLCPNG YYFAIDPNGY VLLHPNLQPK EPVTLDFLDA 550 560 570 580 590 600 ELENDIKVEI RNKMIDGESG EKTFRTLVKS QDERYIDKGN RTYTWTPVNG TDYSLALVLP 610 620 630 640 650 660 TYSFYYIKAK LEETITQARS KKGKMKDSET LKPDNFEESG YTFIAPRDYC NDLKISDNNT 670 680 690 700 710 720 EFLLNFNEFI DRKTPNNPSC NADLINRVLL DAGFTNELVQ NYWSKQKNIK GVKARFVVTD 730 740 750 760 770 780 GGITRVYPKE AGENWQENPE TYEDSFYKRS LDNDNYVFTA PYFNKSGPGA YESGIMVSKA 790 800 810 820 830 840 VEIYIQGKLL KPAVVGIKID VNSWIENFTK TSIRDPCAGP VCDCKRNSDV MDCVILDDGG 850 860 870 880 890 900 FLLMANHDDY TNQIGRFFGE IDPSLMRHLV NISVYAFNKS YDYQSVCEPG AAPKQGAGHR 910 920 930 940 950 960 SAYVPSVADI LQIGWWATAA AWSILQQFLL SLTFPRLLEA VEMEDDDFTA SLSKQSCITE 970 980 990 1000 1010 1020 QTQYFFDNDS KSFSGVLDCG NCSRIFHGEK LMNTNLIFIM VESKGTCPCD TRLLIQAEQT 1030 1040 1050 1060 1070 1080 SDGPNPCDMV KQPRYRKGPD VCFDNNVLED YTDCGGVSGL NPSLWYIIGI QFLLLWLVSG STHRLL
	Isoform 4 (Alpha-2d) [UniParc]. Checksum: AFC36093EB8EE8D3	FASTA	1,079	121,889
	10 20 30 40 50 60 MAAGCLLALT LTLFQSLLIG PSSEEPFPSA VTIKSWVDKM QEDLVTLAKT ASGVNQLVDI 70 80 90 100 110 120 YEKYQDLYTV EPNNARQLVE IAARDIEKLL SNRSKALVRL ALEAEKVQAA HQWREDFASN 130 140 150 160 170 180 EVVYYNAKDD LDPEKNDSEP GSQRIKPVFI EDANFGRQIS YQHAAVHIPT DIYEGSTIVL 190 200 210 220 230 240 NELNWTSALD EVFKKNREED PSLLWQVFGS ATGLARYYPA SPWVDNSRTP NKIDLYDVRR 250 260 270 280 290 300 RPWYIQGAAS PKDMLILVDV SGSVSGLTLK LIRTSVSEML ETLSDDDFVN VASFNSNAQD 310 320 330 340 350 360 VSCFQHLVQA NVRNKKVLKD AVNNITAKGI TDYKKGFSFA FEQLLNYNVS RANCNKIIML 370 380 390 400 410 420 FTDGGEERAQ EIFNKYNKDK KVRVFTFSVG QHNYDRGPIQ WMACENKGYY YEIPSIGAIR 430 440 450 460 470 480 INTQEYLDVL GRPMVLAGDK AKQVQWTNVY LDALELGLVI TGTLPVFNIT GQFENKTNLK 490 500 510 520 530 540 NQLILGVMGV DVSLEDIKRL TPRFTLCPNG YYFAIDPNGY VLLHPNLQPK EPVTLDFLDA 550 560 570 580 590 600 ELENDIKVEI RNKMIDGESG EKTFRTLVKS QDERYIDKGN RTYTWTPVNG TDYSLALVLP 610 620 630 640 650 660 TYSFYYIKAK LEETITQARY SETLKPDNFE ESGYTFIAPR DYCNDLKISD NNTEFLLNFN 670 680 690 700 710 720 EFIDRKTPNN PSCNADLINR VLLDAGFTNE LVQNYWSKQK NIKGVKARFV VTDGGITRVY 730 740 750 760 770 780 PKEAGENWQE NPETYEDSFY KRSLDNDNYV FTAPYFNKSG PGAYESGIMV SKAVEIYIQG 790 800 810 820 830 840 KLLKPAVVGI KIDVNSWIEN FTKTSIRDPC AGPVCDCKRN SDVMDCVILD DGGFLLMANH 850 860 870 880 890 900 DDYTNQIGRF FGEIDPSLMR HLVNISVYAF NKSYDYQSVC EPGAAPKQGA GHRSAYVPSV 910 920 930 940 950 960 ADILQIGWWA TAAAWSILQQ FLLSLTFPRL LEAVEMEDDD FTASLSKQSC ITEQTQYFFD 970 980 990 1000 1010 1020 NDSKSFSGVL DCGNCSRIFH GEKLMNTNLI FIMVESKGTC PCDTRLLIQA EQTSDGPNPC 1030 1040 1050 1060 1070 DMVKQPRYRK GPDVCFDNNV LEDYTDCGGV SGLNPSLWYI IGIQFLLLWL VSGSTHRLL
	Isoform 5 (Alpha-2e) [UniParc]. Checksum: 972A0FB832A88313	FASTA	1,084	122,443
	10 20 30 40 50 60 MAAGCLLALT LTLFQSLLIG PSSEEPFPSA VTIKSWVDKM QEDLVTLAKT ASGVNQLVDI 70 80 90 100 110 120 YEKYQDLYTV EPNNARQLVE IAARDIEKLL SNRSKALVRL ALEAEKVQAA HQWREDFASN 130 140 150 160 170 180 EVVYYNAKDD LDPEKNDSEP GSQRIKPVFI EDANFGRQIS YQHAAVHIPT DIYEGSTIVL 190 200 210 220 230 240 NELNWTSALD EVFKKNREED PSLLWQVFGS ATGLARYYPA SPWVDNSRTP NKIDLYDVRR 250 260 270 280 290 300 RPWYIQGAAS PKDMLILVDV SGSVSGLTLK LIRTSVSEML ETLSDDDFVN VASFNSNAQD 310 320 330 340 350 360 VSCFQHLVQA NVRNKKVLKD AVNNITAKGI TDYKKGFSFA FEQLLNYNVS RANCNKIIML 370 380 390 400 410 420 FTDGGEERAQ EIFNKYNKDK KVRVFTFSVG QHNYDRGPIQ WMACENKGYY YEIPSIGAIR 430 440 450 460 470 480 INTQEYLDVL GRPMVLAGDK AKQVQWTNVY LDALELGLVI TGTLPVFNIT GQFENKTNLK 490 500 510 520 530 540 NQLILGVMGV DVSLEDIKRL TPRFTLCPNG YYFAIDPNGY VLLHPNLQPK NPKSQEPVTL 550 560 570 580 590 600 DFLDAELEND IKVEIRNKMI DGESGEKTFR TLVKSQDERY IDKGNRTYTW TPVNGTDYSL 610 620 630 640 650 660 ALVLPTYSFY YIKAKLEETI TQARYSETLK PDNFEESGYT FIAPRDYCND LKISDNNTEF 670 680 690 700 710 720 LLNFNEFIDR KTPNNPSCNA DLINRVLLDA GFTNELVQNY WSKQKNIKGV KARFVVTDGG 730 740 750 760 770 780 ITRVYPKEAG ENWQENPETY EDSFYKRSLD NDNYVFTAPY FNKSGPGAYE SGIMVSKAVE 790 800 810 820 830 840 IYIQGKLLKP AVVGIKIDVN SWIENFTKTS IRDPCAGPVC DCKRNSDVMD CVILDDGGFL 850 860 870 880 890 900 LMANHDDYTN QIGRFFGEID PSLMRHLVNI SVYAFNKSYD YQSVCEPGAA PKQGAGHRSA 910 920 930 940 950 960 YVPSVADILQ IGWWATAAAW SILQQFLLSL TFPRLLEAVE MEDDDFTASL SKQSCITEQT 970 980 990 1000 1010 1020 QYFFDNDSKS FSGVLDCGNC SRIFHGEKLM NTNLIFIMVE SKGTCPCDTR LLIQAEQTSD 1030 1040 1050 1060 1070 1080 GPNPCDMVKQ PRYRKGPDVC FDNNVLEDYT DCGGVSGLNP SLWYIIGIQF LLLWLVSGST HRLL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M76559 mRNA. Translation: AAA51903.1. CH471091 Genomic DNA. Translation: EAW76990.1. BC117468 mRNA. Translation: AAI17469.1. BC117470 mRNA. Translation: AAI17471.1.
IPI	IPI00953206. IPI00953262. IPI00953650. IPI00978064. IPI01015859.
PIR	JH0565.
RefSeq	NP_000713.2. NM_000722.2.
UniGene	Hs.282151.
3D structure databases
ProteinModelPortal	P54289.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000349320.
Protein family/group databases
TCDB	8.A.18.1.1. Ca2+ channel auxiliary subunit alpha2delta types 1-4 (CCA-alpha2delta) family.
PTM databases
PhosphoSite	P54289.
Polymorphism databases
DMDM	262527579.
Proteomic databases
PaxDb	P54289.
PRIDE	P54289.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000356253; ENSP00000348589; ENSG00000153956. ENST00000356860; ENSP00000349320; ENSG00000153956.
GeneID	781.
KEGG	hsa:781.
UCSC	uc003uhr.1. human.
Organism-specific databases
CTD	781.
GeneCards	GC07M081575.
HGNC	HGNC:1399. CACNA2D1.
HPA	HPA008213. HPA008621.
MIM	114204. gene.
neXtProt	NX_P54289.
Orphanet	51083. Familial short QT syndrome.
PharmGKB	PA86.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG307080.
HOVERGEN	HBG057779.
KO	K04858.
OrthoDB	EOG4CVG65.
Gene expression databases
ArrayExpress	P54289.
Bgee	P54289.
CleanEx	HS_CACNA2D1.
Genevestigator	P54289.
GermOnline	ENSG00000153956. Homo sapiens.
Family and domain databases
Gene3D	3.40.50.410. 1 hit.
InterPro	IPR004010. Cache_domain. IPR013680. VDCC_a2/dsu. IPR013608. VWA_N. IPR002035. VWF_A. [Graphical view]
Pfam	PF02743. Cache_1. 1 hit. PF08473. VGCC_alpha2. 1 hit. PF00092. VWA. 1 hit. PF08399. VWA_N. 1 hit. [Graphical view]
SMART	SM00327. VWA. 1 hit. [Graphical view]
PROSITE	PS50234. VWFA. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	P54289.
ChEMBL	CHEMBL1919.
DrugBank	DB01023. Felodipine. DB00996. Gabapentin. DB00308. Ibutilide. DB00270. Isradipine. DB00653. Magnesium Sulfate. DB01115. Nifedipine.
GenomeRNAi	781.
NextBio	3160.
SOURCE	Search...

Entry information

Entry name

CA2D1_HUMAN

Accession

Primary (citable) accession number: P54289
Secondary accession number(s): Q17R45 , Q9UD80, Q9UD81, Q9UD82

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	November 3, 2009
Last modified:	May 29, 2013
This is version 131 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.