From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Calcium channel, voltage-dependent, T type, alpha 1H subunit , also known as CACNA1H , is a
protein which in humans is encoded by the CACNA1H
gene .
[5]
[6]
[7]
Function
This gene encodes Cav 3.2, a T-type member of the α1 subunit family, a protein in the
voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of α1 , α2 δ, β, and γ subunits in a 1:1:1:1 ratio. The α1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple
isoforms of each of the proteins in the complex, either encoded by different genes or the result of
alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here.
[5]
Clinical significance
Studies suggest certain mutations in this gene lead to
childhood absence epilepsy (CAE).
[8] Variants of Cav 3.2 with increased channel activity contribute to susceptibility to
idiopathic generalized epilepsy (IGE), but are not sufficient to induce epilepsy on their own.
[9] The SFARIgene database lists CACNA1H with an
autism score of 2.1, indicating a candidate causal relationship with
autism .
See also
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000196557 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000024112 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
a
b
"Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit" .
^ Cribbs LL, Lee JH, Yang J, Satin J, Zhang Y, Daud A, Barclay J, Williamson MP, Fox M, Rees M, Perez-Reyes E (July 1998).
"Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family" . Circ. Res . 83 (1): 103–9.
doi :
10.1161/01.res.83.1.103 .
PMID
9670923 .
^ Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J (December 2005). "International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels". Pharmacol. Rev . 57 (4): 411–25.
doi :
10.1124/pr.57.4.5 .
PMID
16382099 .
S2CID
10386627 .
^ Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, Liu X, Jiang Y, Bao X, Yao Z, Ding K, Lo WH, Qiang B, Chan P, Shen Y, Wu X (August 2003).
"Association between genetic variation of CACNA1H and childhood absence epilepsy" . Ann. Neurol . 54 (2): 239–43.
doi :
10.1002/ana.10607 .
PMID
12891677 .
S2CID
33233159 .
^ Heron SE, Khosravani H, Varela D, Bladen C, Williams TC, Newman MR, Scheffer IE, Berkovic SF, Mulley JC, Zamponi GW (December 2007). "Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants". Ann. Neurol . 62 (6): 560–8.
doi :
10.1002/ana.21169 .
hdl :
1880/106734 .
PMID
17696120 .
S2CID
33737531 .
External links
Further reading
Crunelli V, Tóth TI, Cope DW, et al. (2005).
"The 'window' T-type calcium current in brain dynamics of different behavioural states" . J. Physiol . 562 (Pt 1): 121–9.
doi :
10.1113/jphysiol.2004.076273 .
PMC
1665496 .
PMID
15498803 .
Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J (2006). "International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels". Pharmacol. Rev . 57 (4): 411–25.
doi :
10.1124/pr.57.4.5 .
PMID
16382099 .
S2CID
10386627 .
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem . 236 (1): 107–13.
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10.1006/abio.1996.0138 .
PMID
8619474 .
Yu W, Andersson B, Worley KC, et al. (1997).
"Large-scale concatenation cDNA sequencing" . Genome Res . 7 (4): 353–8.
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10.1101/gr.7.4.353 .
PMC
139146 .
PMID
9110174 .
Cribbs LL, Lee JH, Yang J, et al. (1998).
"Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family" . Circ. Res . 83 (1): 103–9.
doi :
10.1161/01.res.83.1.103 .
PMID
9670923 .
Williams ME, Washburn MS, Hans M, et al. (1999). "Structure and functional characterization of a novel human low-voltage activated calcium channel". J. Neurochem . 72 (2): 791–9.
doi :
10.1046/j.1471-4159.1999.0720791.x .
PMID
9930755 .
S2CID
10319699 .
Perez-Reyes E, Lee JH, Cribbs LL (1999). "Molecular characterization of two members of the T-type calcium channel family". Ann. N. Y. Acad. Sci . 868 (1): 131–43.
Bibcode :
1999NYASA.868..131P .
doi :
10.1111/j.1749-6632.1999.tb11283.x .
PMID
10414291 .
S2CID
19893354 .
Bijlenga P, Liu JH, Espinos E, et al. (2000).
"T-type alpha 1H Ca2+ channels are involved in Ca2+ signaling during terminal differentiation (fusion) of human myoblasts" . Proc. Natl. Acad. Sci. U.S.A . 97 (13): 7627–32.
doi :
10.1073/pnas.97.13.7627 .
PMC
16596 .
PMID
10861024 .
Daniels RJ, Peden JF, Lloyd C, et al. (2001).
"Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16" . Hum. Mol. Genet . 10 (4): 339–52.
doi :
10.1093/hmg/10.4.339 .
PMID
11157797 .
Jagannathan S, Punt EL, Gu Y, et al. (2002).
"Identification and localization of T-type voltage-operated calcium channel subunits in human male germ cells. Expression of multiple isoforms" . J. Biol. Chem . 277 (10): 8449–56.
doi :
10.1074/jbc.M105345200 .
PMID
11751928 .
Mariot P, Vanoverberghe K, Lalevee N, et al. (2002).
"Overexpression of an alpha 1H (Cav3.2) T-type calcium channel during neuroendocrine differentiation of human prostate cancer cells" (PDF) . J. Biol. Chem . 277 (13): 10824–33.
doi :
10.1074/jbc.M108754200 .
PMID
11799114 .
Chemin J, Monteil A, Perez-Reyes E, et al. (2002).
"Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability" . J. Physiol . 540 (Pt 1): 3–14.
doi :
10.1113/jphysiol.2001.013269 .
PMC
2290209 .
PMID
11927664 .
Shin JB, Martinez-Salgado C, Heppenstall PA, Lewin GR (2003). "A T-type calcium channel required for normal function of a mammalian mechanoreceptor". Nat. Neurosci . 6 (7): 724–30.
doi :
10.1038/nn1076 .
PMID
12808460 .
S2CID
10255854 .
Wolfe JT, Wang H, Howard J, et al. (2003). "T-type calcium channel regulation by specific G-protein betagamma subunits". Nature . 424 (6945): 209–13.
Bibcode :
2003Natur.424..209W .
doi :
10.1038/nature01772 .
PMID
12853961 .
S2CID
4414712 .
Kaku T, Lee TS, Arita M, et al. (2004).
"The gating and conductance properties of Cav3.2 low-voltage-activated T-type calcium channels" . Jpn. J. Physiol . 53 (3): 165–72.
doi :
10.2170/jjphysiol.53.165 .
PMID
14529577 .
Welsby PJ, Wang H, Wolfe JT, et al. (2003).
"A mechanism for the direct regulation of T-type calcium channels by Ca2+/calmodulin-dependent kinase II" . J. Neurosci . 23 (31): 10116–21.
doi :
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PMC
6740846 .
PMID
14602827 .
Chen CC, Lamping KG, Nuno DW, et al. (2003). "Abnormal coronary function in mice deficient in alpha1H T-type Ca2+ channels". Science . 302 (5649): 1416–8.
doi :
10.1126/science.1089268 .
PMID
14631046 .
S2CID
86685922 .
Khosravani H, Altier C, Simms B, et al. (2004).
"Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy" . J. Biol. Chem . 279 (11): 9681–4.
doi :
10.1074/jbc.C400006200 .
PMID
14729682 .
Martin J, Han C, Gordon LA, et al. (2005).
"The sequence and analysis of duplication-rich human chromosome 16" (PDF) . Nature . 432 (7020): 988–94.
Bibcode :
2004Natur.432..988M .
doi :
10.1038/nature03187 .
PMID
15616553 .
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .