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{{downsize|title=Ca<sub>v</sub>2.1}}
{{DISPLAYTITLE:Ca<sub>v</sub>2.1}}
{{Infobox_gene}}
The '''Ca<sub>v</sub>2.1''' [[P-type calcium channel|P]]/[[Q-type calcium channel|Q]] [[voltage-dependent calcium channel]] is encoded by the {{gene|CACNA1A}} gene.
 
== Function ==
 
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue.


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== Clinical significance ==
{{PBB_Controls
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| require_manual_inspection = no
| update_protein_box = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Mutations in this gene are associated with neurologic disorders, including familial hemiplegic migraine and episodic ataxia 2.
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
| HGNCid = 1388
| Symbol = CACNA1A
| AltSymbols =; APCA; CACNL1A4; CAV2.1; EA2; FHM; HPCA; MHP; MHP1; SCA6
| OMIM = 601011
| ECnumber = 
| Homologene = 56383
| MGIid = 109482
| GeneAtlas_image1 = PBB_GE_CACNA1A_214933_at_tn.png
| GeneAtlas_image2 = PBB_GE_CACNA1A_206399_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_CACNA1A_210770_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{GNF_GO|id=GO:0005245 |text = voltage-gated calcium channel activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0019905 |text = syntaxin binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005891 |text = voltage-gated calcium channel complex}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0042995 |text = cell projection}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006816 |text = calcium ion transport}} {{GNF_GO|id=GO:0007204 |text = elevation of cytosolic calcium ion concentration}} {{GNF_GO|id=GO:0007268 |text = synaptic transmission}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0008219 |text = cell death}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 773
    | Hs_Ensembl = ENSG00000141837
    | Hs_RefseqProtein = NP_000059
    | Hs_RefseqmRNA = NM_000068
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 19
    | Hs_GenLoc_start = 13179088
    | Hs_GenLoc_end = 13478038
    | Hs_Uniprot = O00555
    | Mm_EntrezGene = 12286
    | Mm_Ensembl = ENSMUSG00000034656
    | Mm_RefseqmRNA = XM_986985
    | Mm_RefseqProtein = XP_992079
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 8
    | Mm_GenLoc_start = 87305750
    | Mm_GenLoc_end = 87530351
    | Mm_Uniprot = Q2TPN3
  }}
}}


The '''Ca<sub>v</sub>2.1''' [[P-type calcium channel|P]]/[[Q-type calcium channel|Q]] [[voltage-dependent calcium channel]] is encoded by the {{gene|CACNA1A}} gene.
This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants have been described, however, the full-length nature of not all is known. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. However, in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a [[polyglutamine tract]]. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6.<ref>{{cite web | title = Entrez Gene: CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=773| accessdate = }}</ref>


Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants have been described, however, the full-length nature of not all is known. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6.<ref>{{cite web | title = Entrez Gene: CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=773| accessdate = }}</ref>
== Interactions ==


Cav2.1 has been shown to [[Protein-protein interaction|interact]] with [[CACNB4]].<ref name=pmid9442082>{{cite journal | vauthors = Walker D, Bichet D, Campbell KP, De Waard M | title = A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit | journal = J. Biol. Chem. | volume = 273 | issue = 4 | pages = 2361–7  | date = Jan 1998 | pmid = 9442082 | doi = 10.1074/jbc.273.4.2361 }}</ref><ref name=pmid10212211>{{cite journal | vauthors = Walker D, Bichet D, Geib S, Mori E, Cornet V, Snutch TP, Mori Y, De Waard M | title = A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation | journal = J. Biol. Chem. | volume = 274 | issue = 18 | pages = 12383–90  | date = Apr 1999 | pmid = 10212211 | doi = 10.1074/jbc.274.18.12383 }}</ref>


==References==
== References ==
{{reflist|2}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Terwindt G, Kors E, Haan J, Vermeulen F, Van den Maagdenberg A, Frants R, Ferrari M | title = Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine | journal = Arch. Neurol. | volume = 59 | issue = 6 | pages = 1016–8 | year = 2002 | pmid = 12056940 | doi = 10.1001/archneur.59.6.1016 }}
| citations =
* {{cite journal | vauthors = Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J | title = International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels | journal = Pharmacol. Rev. | volume = 57 | issue = 4 | pages = 411–25 | year = 2005 | pmid = 16382099 | doi = 10.1124/pr.57.4.5 }}
*{{cite journal | author=Terwindt G, Kors E, Haan J, ''et al.'' |title=Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. |journal=Arch. Neurol. |volume=59 |issue= 6 |pages= 1016-8 |year= 2002 |pmid= 12056940 |doi= }}
* {{cite journal | vauthors = Perez-Reyes E, Castellano A, Kim HS, Bertrand P, Baggstrom E, Lacerda AE, Wei XY, Birnbaumer L | title = Cloning and expression of a cardiac/brain beta subunit of the L-type calcium channel | journal = J. Biol. Chem. | volume = 267 | issue = 3 | pages = 1792–7 | year = 1992 | pmid = 1370480 | doi =  }}
*{{cite journal | author=Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J |title=International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 411-25 |year= 2006 |pmid= 16382099 |doi= 10.1124/pr.57.4.5 }}
* {{cite journal | vauthors = Barry EL, Viglione MP, Kim YI, Froehner SC | title = Expression and antibody inhibition of P-type calcium channels in human small-cell lung carcinoma cells | journal = J. Neurosci. | volume = 15 | issue = 1 Pt 1 | pages = 274–83 | year = 1995 | pmid = 7823133 | doi =  }}
*{{cite journal | author=Perez-Reyes E, Castellano A, Kim HS, ''et al.'' |title=Cloning and expression of a cardiac/brain beta subunit of the L-type calcium channel. |journal=J. Biol. Chem. |volume=267 |issue= 3 |pages= 1792-7 |year= 1992 |pmid= 1370480 |doi=  }}
* {{cite journal | vauthors = Joutel A, Bousser MG, Biousse V, Labauge P, Chabriat H, Nibbio A, Maciazek J, Meyer B, Bach MA, Weissenbach J | title = A gene for familial hemiplegic migraine maps to chromosome 19 | journal = Nat. Genet. | volume = 5 | issue = 1 | pages = 40–5 | year = 1993 | pmid = 8220421 | doi = 10.1038/ng0993-40 }}
*{{cite journal | author=Barry EL, Viglione MP, Kim YI, Froehner SC |title=Expression and antibody inhibition of P-type calcium channels in human small-cell lung carcinoma cells. |journal=J. Neurosci. |volume=15 |issue= 1 Pt 1 |pages= 274-83 |year= 1995 |pmid= 7823133 |doi=  }}
* {{cite journal | vauthors = Margolis RL, Breschel TS, Li SH, Kidwai AS, Antonarakis SE, McInnis MG, Ross CA | title = Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain | journal = Somat. Cell Mol. Genet. | volume = 21 | issue = 4 | pages = 279–84 | year = 1995 | pmid = 8525433 | doi = 10.1007/BF02255782 }}
*{{cite journal | author=Joutel A, Bousser MG, Biousse V, ''et al.'' |title=A gene for familial hemiplegic migraine maps to chromosome 19. |journal=Nat. Genet. |volume=5 |issue= 1 |pages= 40-5 |year= 1993 |pmid= 8220421 |doi= 10.1038/ng0993-40 }}
* {{cite journal | vauthors = Rettig J, Sheng ZH, Kim DK, Hodson CD, Snutch TP, Catterall WA | title = Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25 | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 93 | issue = 14 | pages = 7363–8 | year = 1996 | pmid = 8692999 | pmc = 38990 | doi = 10.1073/pnas.93.14.7363 }}
*{{cite journal | author=Margolis RL, Breschel TS, Li SH, ''et al.'' |title=Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain. |journal=Somat. Cell Mol. Genet. |volume=21 |issue= 4 |pages= 279-84 |year= 1996 |pmid= 8525433 |doi= }}
* {{cite journal | vauthors = Diriong S, Lory P, Williams ME, Ellis SB, Harpold MM, Taviaux S | title = Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits | journal = Genomics | volume = 30 | issue = 3 | pages = 605–9 | year = 1995 | pmid = 8825650 | doi = 10.1006/geno.1995.1284 }}
*{{cite journal | author=Rettig J, Sheng ZH, Kim DK, ''et al.'' |title=Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=93 |issue= 14 |pages= 7363-8 |year= 1996 |pmid= 8692999 |doi= }}
* {{cite journal | vauthors = Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR | title = Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 | journal = Cell | volume = 87 | issue = 3 | pages = 543–52 | year = 1996 | pmid = 8898206 | doi = 10.1016/S0092-8674(00)81373-2 }}
*{{cite journal | author=Diriong S, Lory P, Williams ME, ''et al.'' |title=Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits. |journal=Genomics |volume=30 |issue= 3 |pages= 605-9 |year= 1997 |pmid= 8825650 |doi= 10.1006/geno.1995.1284 }}
* {{cite journal | vauthors = Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC | title = Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel | journal = Nat. Genet. | volume = 15 | issue = 1 | pages = 62–9 | year = 1997 | pmid = 8988170 | doi = 10.1038/ng0197-62 }}
*{{cite journal | author=Ophoff RA, Terwindt GM, Vergouwe MN, ''et al.'' |title=Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. |journal=Cell |volume=87 |issue= 3 |pages= 543-52 |year= 1996 |pmid= 8898206 |doi= }}
* {{cite journal | vauthors = De Waard M, Liu H, Walker D, Scott VE, Gurnett CA, Campbell KP | title = Direct binding of G-protein betagamma complex to voltage-dependent calcium channels | journal = Nature | volume = 385 | issue = 6615 | pages = 446–50 | year = 1997 | pmid = 9009193 | doi = 10.1038/385446a0 }}
*{{cite journal | author=Zhuchenko O, Bailey J, Bonnen P, ''et al.'' |title=Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. |journal=Nat. Genet. |volume=15 |issue= 1 |pages= 62-9 |year= 1997 |pmid= 8988170 |doi= 10.1038/ng0197-62 }}
* {{cite journal | vauthors = Qin N, Platano D, Olcese R, Stefani E, Birnbaumer L | title = Direct interaction of gbetagamma with a C-terminal gbetagamma-binding domain of the Ca2+ channel alpha1 subunit is responsible for channel inhibition by G protein-coupled receptors | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 94 | issue = 16 | pages = 8866–71 | year = 1997 | pmid = 9238069 | pmc = 23172 | doi = 10.1073/pnas.94.16.8866 }}
*{{cite journal | author=De Waard M, Liu H, Walker D, ''et al.'' |title=Direct binding of G-protein betagamma complex to voltage-dependent calcium channels. |journal=Nature |volume=385 |issue= 6615 |pages= 446-50 |year= 1997 |pmid= 9009193 |doi= 10.1038/385446a0 }}
* {{cite journal | vauthors = Riess O, Schöls L, Bottger H, Nolte D, Vieira-Saecker AM, Schimming C, Kreuz F, Macek M, Krebsová A, Klockgether T, Zühlke C, Laccone FA | title = SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene | journal = Hum. Mol. Genet. | volume = 6 | issue = 8 | pages = 1289–93 | year = 1997 | pmid = 9259275 | doi = 10.1093/hmg/6.8.1289 }}
*{{cite journal | author=Qin N, Platano D, Olcese R, ''et al.'' |title=Direct interaction of gbetagamma with a C-terminal gbetagamma-binding domain of the Ca2+ channel alpha1 subunit is responsible for channel inhibition by G protein-coupled receptors. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 16 |pages= 8866-71 |year= 1997 |pmid= 9238069 |doi= }}
* {{cite journal | vauthors = Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M | title = Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p | journal = Hum. Mol. Genet. | volume = 6 | issue = 11 | pages = 1973–8 | year = 1997 | pmid = 9302278 | doi = 10.1093/hmg/6.11.1973 }}
*{{cite journal | author=Riess O, Schöls L, Bottger H, ''et al.'' |title=SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. |journal=Hum. Mol. Genet. |volume=6 |issue= 8 |pages= 1289-93 |year= 1997 |pmid= 9259275 |doi= }}
* {{cite journal | vauthors = Charvin N, L'evêque C, Walker D, Berton F, Raymond C, Kataoka M, Shoji-Kasai Y, Takahashi M, De Waard M, Seagar MJ | title = Direct interaction of the calcium sensor protein synaptotagmin I with a cytoplasmic domain of the alpha1A subunit of the P/Q-type calcium channel | journal = EMBO J. | volume = 16 | issue = 15 | pages = 4591–6 | year = 1997 | pmid = 9303303 | pmc = 1170085 | doi = 10.1093/emboj/16.15.4591 }}
*{{cite journal | author=Jodice C, Mantuano E, Veneziano L, ''et al.'' |title=Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. |journal=Hum. Mol. Genet. |volume=6 |issue= 11 |pages= 1973-8 |year= 1998 |pmid= 9302278 |doi= }}
* {{cite journal | vauthors = Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, Ikeuchi T, Watanabe M, Hayashi A, Takiyama Y, Nishizawa M, Nakano I, Matsubayashi K, Miwa M, Shoji S, Kanazawa I, Tsuji S, Mizusawa H | title = Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1 | journal = Am. J. Hum. Genet. | volume = 61 | issue = 2 | pages = 336–46 | year = 1997 | pmid = 9311738 | pmc = 1715894 | doi = 10.1086/514867 }}
*{{cite journal | author=Charvin N, L'evêque C, Walker D, ''et al.'' |title=Direct interaction of the calcium sensor protein synaptotagmin I with a cytoplasmic domain of the alpha1A subunit of the P/Q-type calcium channel. |journal=EMBO J. |volume=16 |issue= 15 |pages= 4591-6 |year= 1997 |pmid= 9303303 |doi= 10.1093/emboj/16.15.4591 }}
* {{cite journal | vauthors = Walker D, Bichet D, Campbell KP, De Waard M | title = A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit | journal = J. Biol. Chem. | volume = 273 | issue = 4 | pages = 2361–7 | year = 1998 | pmid = 9442082 | doi = 10.1074/jbc.273.4.2361 }}
*{{cite journal | author=Ishikawa K, Tanaka H, Saito M, ''et al.'' |title=Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. |journal=Am. J. Hum. Genet. |volume=61 |issue= 2 |pages= 336-46 |year= 1997 |pmid= 9311738 |doi= }}
* {{cite journal | vauthors = Yue Q, Jen JC, Thwe MM, Nelson SF, Baloh RW | title = De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia | journal = Am. J. Med. Genet. | volume = 77 | issue = 4 | pages = 298–301 | year = 1998 | pmid = 9600739 | doi = 10.1002/(SICI)1096-8628(19980526)77:4<298::AID-AJMG9>3.0.CO;2-J }}
*{{cite journal | author=Walker D, Bichet D, Campbell KP, De Waard M |title=A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit. |journal=J. Biol. Chem. |volume=273 |issue= 4 |pages= 2361-7 |year= 1998 |pmid= 9442082 |doi= }}
* {{cite journal | vauthors = Hans M, Urrutia A, Deal C, Brust PF, Stauderman K, Ellis SB, Harpold MM, Johnson EC, Williams ME | title = Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels | journal = Biophys. J. | volume = 76 | issue = 3 | pages = 1384–400 | year = 1999 | pmid = 10049321 | pmc = 1300117 | doi = 10.1016/S0006-3495(99)77300-5 }}
*{{cite journal | author=Yue Q, Jen JC, Thwe MM, ''et al.'' |title=De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. |journal=Am. J. Med. Genet. |volume=77 |issue= 4 |pages= 298-301 |year= 1998 |pmid= 9600739 |doi= }}
* {{cite journal | vauthors = Walker D, Bichet D, Geib S, Mori E, Cornet V, Snutch TP, Mori Y, De Waard M | title = A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation | journal = J. Biol. Chem. | volume = 274 | issue = 18 | pages = 12383–90 | year = 1999 | pmid = 10212211 | doi = 10.1074/jbc.274.18.12383 }}
*{{cite journal | author=Hans M, Urrutia A, Deal C, ''et al.'' |title=Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels. |journal=Biophys. J. |volume=76 |issue= 3 |pages= 1384-400 |year= 1999 |pmid= 10049321 |doi= }}
*{{cite journal | author=Walker D, Bichet D, Geib S, ''et al.'' |title=A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation. |journal=J. Biol. Chem. |volume=274 |issue= 18 |pages= 12383-90 |year= 1999 |pmid= 10212211 |doi=  }}
}}
{{refend}}
{{refend}}


==External links==
== External links ==
{{refbegin}}
*{{cite book |first=Joanna C |last=Jen |date=2009-09-08 |title=Familial Hemiplegic Migraine |id=NBK1388 |url=https://www.ncbi.nlm.nih.gov/books/NBK1388/ }} In {{cite book |veditors=Pagon RA, Bird TD, Dolan CR |title=GeneReviews™ &#x5B;Internet&#x5D; |year=1993– |publisher=University of Washington, Seattle |location=Seattle WA |url=https://www.ncbi.nlm.nih.gov/books/n/gene/TOC/ |ref={{harvid|GeneReviews}}|display-editors=etal}}
*{{cite book |first=Sian |last=Spacey |date=2011-12-08 |title=Episodic Ataxia Type 2 |id=NBK1501 |url=https://www.ncbi.nlm.nih.gov/books/NBK1501/ }} In {{harvnb|GeneReviews}}
*{{cite book |first=Christopher M |last=Gomez |date=2013-07-18 |title=Spinocerebellar Ataxia Type 6 |id=NBK1140 |url=https://www.ncbi.nlm.nih.gov/books/NBK1140/ }} In {{harvnb|GeneReviews}}
{{refend}}
* {{MeshName|CACNA1A+protein,+human}}
* {{MeshName|CACNA1A+protein,+human}}


{{Ion channels}}
{{Ion channels}}
{{membrane-protein-stub}}
 
[[Category:Ion channels]]
[[Category:Ion channels]]

Revision as of 11:55, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
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View/Edit Human

The Cav2.1 P/Q voltage-dependent calcium channel is encoded by the CACNA1A gene.

Function

Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue.

Clinical significance

Mutations in this gene are associated with neurologic disorders, including familial hemiplegic migraine and episodic ataxia 2.

This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants have been described, however, the full-length nature of not all is known. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. However, in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6.[1]

Interactions

Cav2.1 has been shown to interact with CACNB4.[2][3]

References

  1. ↑ "Entrez Gene: CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit".
  2. ↑ Walker D, Bichet D, Campbell KP, De Waard M (Jan 1998). "A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit". J. Biol. Chem. 273 (4): 2361–7. doi:10.1074/jbc.273.4.2361. PMID 9442082.
  3. ↑ Walker D, Bichet D, Geib S, Mori E, Cornet V, Snutch TP, Mori Y, De Waard M (Apr 1999). "A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation". J. Biol. Chem. 274 (18): 12383–90. doi:10.1074/jbc.274.18.12383. PMID 10212211.

Further reading

External links

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