Reactome | UniProt:P54289 CACNA2D1

chain	signal peptide:1-24 chain:25-1103 chain:25-956 chain:957-1103
checksum	0749685DE9DB0700
comment	FUNCTION The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel (PubMed:35293990). Plays an important role in excitation-contraction coupling (By similarity).SUBUNIT 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 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.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.PTM Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Binds gabapentin, an antiepileptic drug.SIMILARITY Belongs to the calcium channel subunit alpha-2/delta family.
crossReference	[DatabaseIdentifier:12235161] PDB:8IF4 [DatabaseIdentifier:12818666] ZINC - World Drugs:CA2D1_HUMAN [DatabaseIdentifier:12817501] ZINC target:P54289 [DatabaseIdentifier:12814067] ZINC - Substances:CA2D1_HUMAN [DatabaseIdentifier:12810660] ZINC - Predictions - Purchasable:CA2D1_HUMAN [DatabaseIdentifier:12806009] ZINC - FDA approved:CA2D1_HUMAN [DatabaseIdentifier:12350158] RefSeq:NP_000713.2 [DatabaseIdentifier:12350157] RefSeq:XP_005250629.1 [DatabaseIdentifier:12350159] RefSeq:XP_005250630.1 [DatabaseIdentifier:12350154] RefSeq:XP_054214955.1 [DatabaseIdentifier:12350155] RefSeq:XP_054214950.1 [DatabaseIdentifier:12350153] RefSeq:XP_005250631.1 [DatabaseIdentifier:12350156] RefSeq:NP_001353796.1 [DatabaseIdentifier:12350152] RefSeq:XP_054214953.1 [DatabaseIdentifier:12294772] Pharos - Targets:P54289 [DatabaseIdentifier:12257267] PRO:P54289 [DatabaseIdentifier:12175787] PDB:7VFS [DatabaseIdentifier:12146722] PDB:8E59 [DatabaseIdentifier:12163162] PDB:8WE8 [DatabaseIdentifier:12146719] PDB:8E5A [DatabaseIdentifier:12227683] PDB:7YG5 [DatabaseIdentifier:12163145] PDB:8FHS [DatabaseIdentifier:12146721] PDB:7UHG [DatabaseIdentifier:11464641] ENSEMBL:ENSG00000153956 [DatabaseIdentifier:11559701] ENSEMBL:ENSP00000349320 [DatabaseIdentifier:11559702] ENSEMBL:ENSP00000409374 [DatabaseIdentifier:11682401] ENSEMBL:ENST00000443883 [DatabaseIdentifier:11682400] ENSEMBL:ENST00000356860 [DatabaseIdentifier:11796942] GeneCards:CACNA2D1 [DatabaseIdentifier:11834260] HMDB Protein:HMDBP07484 [DatabaseIdentifier:11849909] HPA:ENSG00000153956-CACNA2D1 [DatabaseIdentifier:12134610] OpenTargets:ENSG00000153956 [DatabaseIdentifier:12138007] Orphanet:CACNA2D1 [DatabaseIdentifier:12175790] PDB:7MIX [DatabaseIdentifier:12163160] PDB:8WEA [DatabaseIdentifier:12175788] PDB:7VFW [DatabaseIdentifier:12163163] PDB:8WE9 [DatabaseIdentifier:12163165] PDB:8WE6 [DatabaseIdentifier:12218965] PDB:8X91 [DatabaseIdentifier:12163168] PDB:8WE7 [DatabaseIdentifier:12175789] PDB:7MIY [DatabaseIdentifier:12231006] PDB:8EPM [DatabaseIdentifier:12227684] PDB:7XLQ [DatabaseIdentifier:12175785] PDB:7VFU [DatabaseIdentifier:12175786] PDB:7VFV [DatabaseIdentifier:12231007] PDB:8EPL [DatabaseIdentifier:12146718] PDB:8E5B [DatabaseIdentifier:12163173] PDB:8HMA [DatabaseIdentifier:12218964] PDB:8X93 [DatabaseIdentifier:12163153] PDB:8HLP [DatabaseIdentifier:12218966] PDB:8X90 [DatabaseIdentifier:12163175] PDB:8HMB [DatabaseIdentifier:12235160] PDB:8IF3 [DatabaseIdentifier:12146720] PDB:7UHF
databaseName	UniProt
dbId	52072
description	recommendedName: Voltage-dependent calcium channel subunit alpha-2/delta-1 alternativeName: Voltage-gated calcium channel subunit alpha-2/delta-1 component recommendedName: Voltage-dependent calcium channel subunit alpha-2-1 /component component recommendedName: Voltage-dependent calcium channel subunit delta-1 /component
displayName	UniProt:P54289 CACNA2D1
geneName	CACNA2D1 CACNL2A CCHL2A MHS3
identifier	P54289
isSequenceChanged	false
keyword	3D-structure Alternative splicing Calcium Calcium channel Calcium transport Cell membrane Disease variant Disulfide bond Epilepsy Glycoprotein Intellectual disability Ion channel Ion transport Membrane Metal-binding Phosphoprotein Proteomics identification Reference proteome Signal Transmembrane Transmembrane helix Transport Voltage-gated channel
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	CACNA2D1
otherIdentifier	11751259_a_at 17059195 207050_PM_at 207050_at 227623_PM_at 227623_at 3059006 3059007 3059008 3059011 3059013 3059014 3059015 3059016 3059017 3059018 3059019 3059020 3059021 3059022 3059024 3059025 3059026 3059027 3059028 3059029 3059030 3059031 3059033 3059034 3059036 3059038 3059039 3059040 3059041 3059042 3059043 3059044 3059045 3059048 3059049 3059052 3059053 3059054 3059059 3059063 3059064 3059067 3059071 3059075 3059080 3059120 3059127 3059147 3059148 3059149 3059150 3059151 35527_at 65904_at 74099_at 781 8140579 A_23_P82379 A_33_P3232478 GE574347 GE620213 GO:0005245 GO:0005262 GO:0005886 GO:0005891 GO:0006811 GO:0006816 GO:0016020 GO:0016529 GO:0030315 GO:0034220 GO:0034702 GO:0046872 GO:0048787 GO:0051924 GO:0055085 GO:0060307 GO:0060402 GO:0061577 GO:0070062 GO:0070588 GO:0086002 GO:0086007 GO:0086048 GO:0086057 GO:0086091 GO:0098703 GO:0098903 GO:0098982 GO:0098992 GO:1902514 GO:1904646 GO:1990454 HMNXSV003012929 HMNXSV003029551 Hs.298258.0.A1_3p_at ILMN_1768533 M76559_at PH_hs_0031836 TC07001563.hg TC07003044.hg g4757893_3p_at p26398
physicalEntity	[EntityWithAccessionedSequence:R-HSA-5577142] CACNA2D1(957-1103) [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5577182] CACNA2D1(25-956) [plasma membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000153956] ENSEMBL:ENSG00000153956 CACNA2D1 [ReferenceDNASequence:12733895] UCSC:P54289 CACNA2D1 [ReferenceDNASequence:11328903] BioGPS Gene:781 CACNA2D1 [ReferenceDNASequence:11398922] COSMIC - genes:CACNA2D1 CACNA2D1 [ReferenceDNASequence:11407079] CTD Gene:781 CACNA2D1 [ReferenceDNASequence:11435812] dbSNP Gene:781 CACNA2D1 [ReferenceDNASequence:11828657] HGNC:1399 CACNA2D1 [ReferenceDNASequence:11871028] KEGG:hsa:781 CACNA2D1 [ReferenceDNASequence:11958692] Monarch:781 CACNA2D1 [ReferenceDNASequence:12042785] NCBI Gene:781 CACNA2D1 [ReferenceDNASequence:12118774] OMIM:114204 CACNA2D1
referenceTranscript	[ReferenceRNASequence:12532010] RefSeq:NM_000722.4 CACNA2D1 [ReferenceRNASequence:12532011] RefSeq:XM_054358975.1 CACNA2D1 [ReferenceRNASequence:12532006] RefSeq:XM_054358980.1 CACNA2D1 [ReferenceRNASequence:12532008] RefSeq:NM_001366867.1 CACNA2D1 [ReferenceRNASequence:12532005] RefSeq:XM_005250574.4 CACNA2D1 [ReferenceRNASequence:12532007] RefSeq:XM_005250572.4 CACNA2D1 [ReferenceRNASequence:12532009] RefSeq:XM_005250573.4 CACNA2D1 [ReferenceRNASequence:12532012] RefSeq:XM_054358978.1 CACNA2D1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	CA2D1_HUMAN Q17R45 Q9UD80 Q9UD81 Q9UD82
sequenceLength	1103
species	[Species:48887] Homo sapiens
stId	uniprot:P54289
url	http://purl.uniprot.org/uniprot/P54289

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-5577142] CACNA2D1(957-1103) [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5577182] CACNA2D1(25-956) [plasma membrane]
(referenceSequence)	[InterChainCrosslinkedResidue:9905932] Inter-chain Crosslink via L-cystine (cross-link) at 404 and 1059 [InterChainCrosslinkedResidue:9905962] Inter-chain Crosslink via L-cystine (cross-link) at 1059 and 404
(secondReferenceSequence)	[InterChainCrosslinkedResidue:9905932] Inter-chain Crosslink via L-cystine (cross-link) at 404 and 1059 [InterChainCrosslinkedResidue:9905962] Inter-chain Crosslink via L-cystine (cross-link) at 1059 and 404

UniProt:P54289 CACNA2D1 Show undefined attributes

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