CACNA1H

CACNA1H
Identifiers
AliasesCACNA1H, CACNA1HB, Cav3.2, ECA6, EIG6, calcium voltage-gated channel subunit alpha1 H, HALD4
External IDsMGI: 1928842 HomoloGene: 56913 GeneCards: CACNA1H
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16p13.3Start1,153,121 bp[1]
End1,221,772 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

8912

58226

Ensembl

ENSG00000196557

ENSMUSG00000024112

UniProt

O95180

O88427

RefSeq (mRNA)

NM_001005407
NM_021098

NM_001163691
NM_021415

RefSeq (protein)

NP_001005407
NP_066921

n/a

Location (UCSC)Chr 16: 1.15 – 1.22 MbChr 17: 25.37 – 25.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 Cav3.2, 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, α2δ, 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 Cav3.2 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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000196557 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024112 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit".
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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. PMID 17696120.

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.
  • Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi: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. doi: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.
  • 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: 131–43. doi:10.1111/j.1749-6632.1999.tb11283.x. PMID 10414291.
  • 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". 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.
  • 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. doi:10.1038/nature01772. PMID 12853961.
  • 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. 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.
  • 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". Nature. 432 (7020): 988–94. doi:10.1038/nature03187. PMID 15616553.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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