HUMAN:CAC1A

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	CACNA1A (synonyms: CACH4, CACN3, CACNL1A4)
Protein Name(s)	Voltage-dependent P/Q-type calcium channel subunit alpha-1A Brain calcium channel I BI Calcium channel, L type, alpha-1 polypeptide isoform 4 Voltage-gated calcium channel subunit alpha Cav2.1
External Links
UniProt	O00555
EMBL	AF004883 AF004884 X99897 Z80114 Z80115 U79663 U79664 U79665 U79666 U79667 U79668 AB035727 AC005305 AC005513 AC008540 AC011446 AC022436 AC026805 AC093062 AC098781 AC124224 S76537 U06702
CCDS	CCDS45998.1 CCDS45999.1
RefSeq	NP_000059.3 NP_001120693.1 NP_001120694.1 NP_001167551.1 NP_075461.2
UniGene	Hs.501632
PDB	3BXK
PDBsum	3BXK
ProteinModelPortal	O00555
SMR	O00555
BioGrid	107227
IntAct	O00555
BindingDB	O00555
ChEMBL	CHEMBL4266
DrugBank	DB01244 DB00836 DB00230 DB00421 DB00661
TCDB	1.A.1.11.27
PhosphoSite	O00555
MaxQB	O00555
PaxDb	O00555
PRIDE	O00555
DNASU	773
Ensembl	ENST00000360228 ENST00000573710
GeneID	773
KEGG	hsa:773
UCSC	uc010dze.2
CTD	773
GeneCards	GC19M013317
GeneReviews	CACNA1A
HGNC	HGNC:1388
MIM	108500 141500 183086 601011
neXtProt	NX_O00555
Orphanet	2131 71518 569 97 98758
PharmGKB	PA26007
eggNOG	COG1226
GeneTree	ENSGT00760000118827
HOVERGEN	HBG050763
InParanoid	O00555
KO	K04344
OMA	QPGFWEG
OrthoDB	EOG7T1RBQ
PhylomeDB	O00555
TreeFam	TF312805
Reactome	REACT_13606 REACT_18325
ChiTaRS	CACNA1A
EvolutionaryTrace	O00555
GeneWiki	Cav2.1
GenomeRNAi	773
NextBio	3122
PRO	PR:O00555
Proteomes	UP000005640
Bgee	O00555
ExpressionAtlas	O00555
Genevestigator	O00555
GO	GO:0042995 GO:0005737 GO:0030425 GO:0016021 GO:0043025 GO:0005634 GO:0005886 GO:0005891 GO:0008331 GO:0046872 GO:0019905 GO:0005245 GO:0007628 GO:0048266 GO:0070509 GO:0017156 GO:0048791 GO:0008219 GO:0016049 GO:0030644 GO:0021679 GO:0021702 GO:0021590 GO:0048813 GO:0006112 GO:0014051 GO:0007214 GO:0006006 GO:0042445 GO:0051899 GO:0086010 GO:0050883 GO:0032353 GO:0043524 GO:0050885 GO:0007274 GO:0042133 GO:0007204 GO:0043113 GO:0014056 GO:0050770 GO:0017158 GO:0050796 GO:0060024 GO:0044281 GO:0021522 GO:0000096 GO:0007416 GO:0007268 GO:0035249 GO:0019226 GO:0021750
Gene3D	1.20.120.350
InterPro	IPR027359 IPR005821 IPR014873 IPR005448 IPR002077
PANTHER	PTHR10037:SF59
Pfam	PF08763 PF00520
PRINTS	PR00167 PR01632
SMART	SM01062

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
enables	GO:0001540	amyloid-beta binding	PMID:23376566^[1]	ECO:0000305	curator inference used in manual assertion	GO:0050804,GO:1904645	F		Seeded From UniProt	complete
involved_in	GO:0050804	modulation of chemical synaptic transmission	PMID:23376566^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	part_of:(GO:1904645) occurs_in:(UBERON:0002421)	Seeded From UniProt	complete
involved_in	GO:1904645	response to amyloid-beta	PMID:23376566^[1]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0008331	high voltage-gated calcium channel activity	PMID:23376566^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:1904645	response to amyloid-beta	PMID:18216187^[2]	ECO:0000314	direct assay evidence used in manual assertion		P	causally_upstream_of:(GO:1901842)\|causally_upstream_of:(GO:1904878)\|causally_upstream_of:(GO:2000301)\|causally_upstream_of:(GO:0050804)	Seeded From UniProt	complete
involved_in	GO:1904646	cellular response to amyloid-beta	PMID:21883149^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	causally_upstream_of:(GO:1904879)	Seeded From UniProt	complete
involved_in	GO:1904646	cellular response to amyloid-beta	PMID:21883149^[3]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P54289,UniProtKB:Q02641	P	causally_upstream_of:(GO:1901387)	Seeded From UniProt	complete
part_of	GO:0043025	neuronal cell body	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P54282	C	part_of:(CL:0000121)	Seeded From UniProt	complete
enables	GO:0005245	voltage-gated calcium channel activity	PMID:21883149^[3]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P54289,UniProtKB:Q02641	F		Seeded From UniProt	complete
enables	GO:0008331	high voltage-gated calcium channel activity	PMID:21883149^[3]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0008331	high voltage-gated calcium channel activity	PMID:26716990^[4]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:26716990^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0070588	calcium ion transmembrane transport	PMID:26716990^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0070588	calcium ion transmembrane transport	PMID:24836863^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0008331	high voltage-gated calcium channel activity	PMID:24836863^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0042995	cell projection	PMID:16595610^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0019905	syntaxin binding	PMID:8692999^[7]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	PMID:10753886^[8]	ECO:0000303	author statement without traceable support used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0008219	cell death	PMID:16595610^[6]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007204	positive regulation of cytosolic calcium ion concentration	PMID:10753886^[8]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:16595610^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:16595610^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:16595610^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005245	voltage-gated calcium channel activity	PMID:12451115^[9]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005245	voltage-gated calcium channel activity	PMID:10753886^[8]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0070509	calcium ion import	PMID:21873635^[10]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001295314 RGD:2244 RGD:2245 RGD:2246 RGD:628852 RGD:70973 UniProtKB:Q01668	P		Seeded From UniProt	complete
involved_in	GO:0007268	chemical synaptic transmission	PMID:21873635^[10]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0263111 MGI:MGI:109482 PANTHER:PTN000004141 RGD:2244	P		Seeded From UniProt	complete
involved_in	GO:0006816	calcium ion transport	PMID:21873635^[10]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0263111 MGI:MGI:103013 MGI:MGI:106217 MGI:MGI:109482 MGI:MGI:88294 MGI:MGI:88296 PANTHER:PTN001295293 RGD:2244 RGD:2245 RGD:628852 RGD:70973 RGD:70983 SGD:S000003449 UniProtKB:Q01668 UniProtKB:Q13698 ZFIN:ZDB-GENE-020129-1	P		Seeded From UniProt	complete
enables	GO:0005245	voltage-gated calcium channel activity	PMID:21873635^[10]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0001991 FB:FBgn0263111 MGI:MGI:103013 MGI:MGI:106217 MGI:MGI:109482 MGI:MGI:1859639 MGI:MGI:88294 MGI:MGI:88296 PANTHER:PTN001295314 RGD:2244 RGD:2245 RGD:2246 RGD:628852 RGD:70973 UniProtKB:O00555 UniProtKB:O60840 UniProtKB:Q01668 UniProtKB:Q13698 UniProtKB:Q13936 UniProtKB:Q15878 WB:WBGene00001187	F		Seeded From UniProt	complete
enables	GO:0005216	ion channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005821	F		Seeded From UniProt	complete
enables	GO:0005245	voltage-gated calcium channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002077 InterPro:IPR005448	F		Seeded From UniProt	complete
part_of	GO:0005891	voltage-gated calcium channel complex	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002077 InterPro:IPR005448	C		Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005821	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005821	C		Seeded From UniProt	complete
involved_in	GO:0055085	transmembrane transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005821	P		Seeded From UniProt	complete
involved_in	GO:0070588	calcium ion transmembrane transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002077 InterPro:IPR005448	P		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	PMID:16595610^[6]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0051899	membrane depolarization	Reactome:R-HSA-112308	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050796	regulation of insulin secretion	Reactome:R-HSA-422356	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-HSA-265645 Reactome:R-HSA-210420	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C		Seeded From UniProt	complete
involved_in	GO:0034765	regulation of ion transmembrane transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0851	P		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
enables	GO:0005244	voltage-gated ion channel activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0851	F		Seeded From UniProt	complete
involved_in	GO:0070588	calcium ion transmembrane transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0107	P		Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F		Seeded From UniProt	complete
enables	GO:0005262	calcium channel activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0107	F		Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0406	P		Seeded From UniProt	complete
involved_in	GO:0006816	calcium ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0109	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 Hermann, D et al. (2013) Synthetic Aβ oligomers (Aβ(1-42) globulomer) modulate presynaptic calcium currents: prevention of Aβ-induced synaptic deficits by calcium channel blockers. Eur. J. Pharmacol. 702 44-55 PubMed GONUTS page
↑ Nimmrich, V et al. (2008) Amyloid beta oligomers (A beta(1-42) globulomer) suppress spontaneous synaptic activity by inhibition of P/Q-type calcium currents. J. Neurosci. 28 788-97 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 Mezler, M et al. (2012) A β-amyloid oligomer directly modulates P/Q-type calcium currents in Xenopus oocytes. Br. J. Pharmacol. 165 1572-83 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 Bahamonde, MI et al. (2015) A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx. PLoS ONE 10 e0146035 PubMed GONUTS page
↑ ^5.0 ^5.1 García Segarra, N et al. (2014) Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A. J. Neurol. Sci. 342 69-78 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 Kordasiewicz, HB et al. (2006) C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. Hum. Mol. Genet. 15 1587-99 PubMed GONUTS page
↑ Rettig, J et al. (1996) Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25. Proc. Natl. Acad. Sci. U.S.A. 93 7363-8 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 Toru, S et al. (2000) Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function. J. Biol. Chem. 275 10893-8 PubMed GONUTS page
↑ Soong, TW et al. (2002) Systematic identification of splice variants in human P/Q-type channel alpha1(2.1) subunits: implications for current density and Ca2+-dependent inactivation. J. Neurosci. 22 10142-52 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 ^10.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:23376566-1] 1.0 ^1.1 ^1.2 ^1.3 Hermann, D et al. (2013) Synthetic Aβ oligomers (Aβ(1-42) globulomer) modulate presynaptic calcium currents: prevention of Aβ-induced synaptic deficits by calcium channel blockers. Eur. J. Pharmacol. 702 44-55 PubMed GONUTS page

[PMID:18216187-2] Nimmrich, V et al. (2008) Amyloid beta oligomers (A beta(1-42) globulomer) suppress spontaneous synaptic activity by inhibition of P/Q-type calcium currents. J. Neurosci. 28 788-97 PubMed GONUTS page

[PMID:21883149-3] 3.0 ^3.1 ^3.2 ^3.3 Mezler, M et al. (2012) A β-amyloid oligomer directly modulates P/Q-type calcium currents in Xenopus oocytes. Br. J. Pharmacol. 165 1572-83 PubMed GONUTS page

[PMID:26716990-4] 4.0 ^4.1 ^4.2 Bahamonde, MI et al. (2015) A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx. PLoS ONE 10 e0146035 PubMed GONUTS page

[PMID:24836863-5] 5.0 ^5.1 García Segarra, N et al. (2014) Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A. J. Neurol. Sci. 342 69-78 PubMed GONUTS page

[PMID:16595610-6] 6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 Kordasiewicz, HB et al. (2006) C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. Hum. Mol. Genet. 15 1587-99 PubMed GONUTS page

[PMID:8692999-7] Rettig, J et al. (1996) Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25. Proc. Natl. Acad. Sci. U.S.A. 93 7363-8 PubMed GONUTS page

[PMID:10753886-8] 8.0 ^8.1 ^8.2 Toru, S et al. (2000) Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function. J. Biol. Chem. 275 10893-8 PubMed GONUTS page

[PMID:12451115-9] Soong, TW et al. (2002) Systematic identification of splice variants in human P/Q-type channel alpha1(2.1) subunits: implications for current density and Ca2+-dependent inactivation. J. Neurosci. 22 10142-52 PubMed GONUTS page

[PMID:21873635-10] 10.0 ^10.1 ^10.2 ^10.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

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HUMAN:CAC1A

Contents

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Notes

References

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