Cav1.2
Podjedinica alfa 1C L-tipa naponski ovisnog kalcijskog kanala (znana i kao Cav1.2) jest protein koji je kod ljudi kodiran genom CACNA1C sa hromosoma 12.[5][6]
Aminokiselinska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 2.221 aminokiselina, a molekulska težina 248.977 Da.[5]
10 | 20 | 30 | 40 | 50 | ||||
---|---|---|---|---|---|---|---|---|
MVNENTRMYI | PEENHQGSNY | GSPRPAHANM | NANAAAGLAP | EHIPTPGAAL | ||||
SWQAAIDAAR | QAKLMGSAGN | ATISTVSSTQ | RKRQQYGKPK | KQGSTTATRP | ||||
PRALLCLTLK | NPIRRACISI | VEWKPFEIII | LLTIFANCVA | LAIYIPFPED | ||||
DSNATNSNLE | RVEYLFLIIF | TVEAFLKVIA | YGLLFHPNAY | LRNGWNLLDF | ||||
IIVVVGLFSA | ILEQATKADG | ANALGGKGAG | FDVKALRAFR | VLRPLRLVSG | ||||
VPSLQVVLNS | IIKAMVPLLH | IALLVLFVII | IYAIIGLELF | MGKMHKTCYN | ||||
QEGIADVPAE | DDPSPCALET | GHGRQCQNGT | VCKPGWDGPK | HGITNFDNFA | ||||
FAMLTVFQCI | TMEGWTDVLY | WVNDAVGRDW | PWIYFVTLII | IGSFFVLNLV | ||||
LGVLSGEFSK | EREKAKARGD | FQKLREKQQL | EEDLKGYLDW | ITQAEDIDPE | ||||
NEDEGMDEEK | PRNMSMPTSE | TESVNTENVA | GGDIEGENCG | ARLAHRISKS | ||||
KFSRYWRRWN | RFCRRKCRAA | VKSNVFYWLV | IFLVFLNTLT | IASEHYNQPN | ||||
WLTEVQDTAN | KALLALFTAE | MLLKMYSLGL | QAYFVSLFNR | FDCFVVCGGI | ||||
LETILVETKI | MSPLGISVLR | CVRLLRIFKI | TRYWNSLSNL | VASLLNSVRS | ||||
IASLLLLLFL | FIIIFSLLGM | QLFGGKFNFD | EMQTRRSTFD | NFPQSLLTVF | ||||
QILTGEDWNS | VMYDGIMAYG | GPSFPGMLVC | IYFIILFICG | NYILLNVFLA | ||||
IAVDNLADAE | SLTSAQKEEE | EEKERKKLAR | TASPEKKQEL | VEKPAVGESK | ||||
EEKIELKSIT | ADGESPPATK | INMDDLQPNE | NEDKSPYPNP | ETTGEEDEEE | ||||
PEMPVGPRPR | PLSELHLKEK | AVPMPEASAF | FIFSSNNRFR | LQCHRIVNDT | ||||
IFTNLILFFI | LLSSISLAAE | DPVQHTSFRN | HILFYFDIVF | TTIFTIEIAL | ||||
KILGNADYVF | TSIFTLEIIL | KMTAYGAFLH | KGSFCRNYFN | ILDLLVVSVS | ||||
LISFGIQSSA | INVVKILRVL | RVLRPLRAIN | RAKGLKHVVQ | CVFVAIRTIG | ||||
NIVIVTTLLQ | FMFACIGVQL | FKGKLYTCSD | SSKQTEAECK | GNYITYKDGE | ||||
VDHPIIQPRS | WENSKFDFDN | VLAAMMALFT | VSTFEGWPEL | LYRSIDSHTE | ||||
DKGPIYNYRV | EISIFFIIYI | IIIAFFMMNI | FVGFVIVTFQ | EQGEQEYKNC | ||||
ELDKNQRQCV | EYALKARPLR | RYIPKNQHQY | KVWYVVNSTY | FEYLMFVLIL | ||||
LNTICLAMQH | YGQSCLFKIA | MNILNMLFTG | LFTVEMILKL | IAFKPKGYFS | ||||
DPWNVFDFLI | VIGSIIDVIL | SETNHYFCDA | WNTFDALIVV | GSIVDIAITE | ||||
VNPAEHTQCS | PSMNAEENSR | ISITFFRLFR | VMRLVKLLSR | GEGIRTLLWT | ||||
FIKSFQALPY | VALLIVMLFF | IYAVIGMQVF | GKIALNDTTE | INRNNNFQTF | ||||
PQAVLLLFRC | ATGEAWQDIM | LACMPGKKCA | PESEPSNSTE | GETPCGSSFA | ||||
VFYFISFYML | CAFLIINLFV | AVIMDNFDYL | TRDWSILGPH | HLDEFKRIWA | ||||
EYDPEAKGRI | KHLDVVTLLR | RIQPPLGFGK | LCPHRVACKR | LVSMNMPLNS | ||||
DGTVMFNATL | FALVRTALRI | KTEGNLEQAN | EELRAIIKKI | WKRTSMKLLD | ||||
QVVPPAGDDE | VTVGKFYATF | LIQEYFRKFK | KRKEQGLVGK | PSQRNALSLQ | ||||
AGLRTLHDIG | PEIRRAISGD | LTAEEELDKA | MKEAVSAASE | DDIFRRAGGL | ||||
FGNHVSYYQS | DGRSAFPQTF | TTQRPLHINK | AGSSQGDTES | PSHEKLVDST | ||||
FTPSSYSSTG | SNANINNANN | TALGRLPRPA | GYPSTVSTVE | GHGPPLSPAI | ||||
RVQEVAWKLS | SNRERHVPMC | EDLELRRDSG | SAGTQAHCLL | LRKANPSRCH | ||||
SRESQAAMAG | QEETSQDETY | EVKMNHDTEA | CSEPSLLSTE | MLSYQDDENR | ||||
QLTLPEEDKR | DIRQSPKRGF | LRSASLGRRA | SFHLECLKRQ | KDRGGDISQK | ||||
TVLPLHLVHH | QALAVAGLSP | LLQRSHSPAS | FPRPFATPPA | TPGSRGWPPQ | ||||
PVPTLRLEGV | ESSEKLNSSF | PSIHCGSWAE | TTPGGGGSSA | ARRVRPVSLM | ||||
VPSQAGAPGR | QFHGSASSLV | EAVLISEGLG | QFAQDPKFIE | VTTQELADAC | ||||
DMTIEEMESA | ADNILSGGAP | QSPNGALLPF | VNCRDAGQDR | AGGEEDAGCV | ||||
RARGRPSEEE | LQDSRVYVSS | L |
Struktura i funkcija
[uredi | uredi izvor]Ovaj gen kodira alfa-1 podjedinicu naponsko-ovisnog kalcijevog kanala. Kalcijski kanali posreduju priliv kalcijevih iona (Ca2+) u ćeliju nakon polarizacije membrane (vidi membranski potencijal i kalciju biologiji).[7]
Podjedinica alfa-1 sastoji se od 24 transmembranska segmenta i formira pore kroz koje ioni prolaze u ćeliju. Kalcijski kanal se sastoji od kompleksa alfa-1, alfa-2/delta i beta podjedinica u omjeru 1:1:1. S3-S4 linkeri Cav1.2 određuju fenotip sajta i moduliranu kinetiku kanala.[8] Cav1.2 je široko eksprimiran u glatkim mišićima, ćelijama pankreasa, fibroblastima i neuronima.[9][10] Međutim, posebno je važan i poznat po svojoj ekspresiji u srcu, gdje posreduje struje L-tipa, što uzrokuje oslobađanje kalcija izazvano kalcijem iz ER skladišta preko rijanodinskih receptora. Depolarizuje se na -30mV i pomaže u definiranju oblika akcijskog potencijala u srčanom i glatkim mišićima.[8] Protein kodiran ovim genom vezuje se za dihidropiridin i inhibira ga.[11] In the arteries of the brain, high levels of calcium in mitochondria elevates activity of nuclear factor kappa B NF-κB and transcription of CACNA1c and functional Cav1.2 expression increases.[12] Cav1.2 also regulates levels of osteoprotegerin.[13]
CaV1. 2 je inhibiran djelovanjem STIM1.[14]
Regulacija
[uredi | uredi izvor]Aktivnost CaV1.2 kanala je strogo regulirana Ca2+ signalima koje oni proizvode. Povećanje unutarćelijske koncentracije Ca2+ uključeno u Cav1.2 facilitaciju, oblik pozitivne povratne informacije koji se zove Ca2+-ovisna facilitacija, koja pojačava priliv Ca2+ . Osim toga, povećanje influksne unutarćelijske koncentracije Ca2+ je impliciralo da ima suprotan efekat inaktivacije ovisne od Ca2+.[15] Ovi mehanizmi aktivacije i inaktivacije uključuju vezivanje Ca2+ za kalmodulin (CaM) u IQ domen u C-terminalnom repu ovih kanala.[16] Cav1.2 kanali su raspoređeni u ćelijskoj membrani, u prosjeku u klasteru od po osam. Kada se ioni kalcija vežu za kalmodulin, koji se zauzvrat veže za Cav1.2 kanal, omogućava Cav1.2 kanalima unutar klastera da međusobno komuniciraju.[17] Ovo dovodi do toga da kanali rade zajedno kada se istovremeno otvore, kako bi omogućili ulazak više iona kalcija, a zatim se zatvaraju zajedno kako bi se ćelija opustila.[17]
Klinički značaj
[uredi | uredi izvor]Mutacija gena CACNA1C, jednonukleotidni polimorfizam (SNP) koji se nalazi u trećem intronu Cav1.2 gena,[18] povezana s varijantom sindromas dugog QT koja se naziva Timothyjev sindrom[19] i šire sa drugim CACNA1C-vezanim poremećajima,[19] kao i sa Brugadaovim sindromom.[20] Genetićke analize velikih razmjera pokazale su mogućnost da je CACNA1C povezan sa bipolarnim poremećajem[21] a posljedično i sa shizofrenijom.[22][23][24] Također, alel rizika CACNA1C povezan je s poremećajem moždane povezanosti kod pacijenata s bipolarnim poremećajem, iako ne ili samo u manjem stepenu, kod njihovih netaknutih rođaka ili zdravih kontrola.[25]
Interaktivna mapa puta
[uredi | uredi izvor]Šablon:NicotineChromaffinActivity WP1603
Također pogledajte
[uredi | uredi izvor]Reference
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- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051331 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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- ^ Berger SM, Bartsch D (Aug 2014). "The role of L-type voltage-gated calcium channels Cav1.2 and Cav1.3 in normal and pathological brain function". Cell and Tissue Research. 357 (2): 463–76. doi:10.1007/s00441-014-1936-3. PMID 24996399. S2CID 15914718.
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- ^ Bergh JJ, Xu Y, Farach-Carson MC (Jan 2004). "Osteoprotegerin expression and secretion are regulated by calcium influx through the L-type voltage-sensitive calcium channel". Endocrinology. 145 (1): 426–36. doi:10.1210/en.2003-0319. PMID 14525906.
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- ^ Curtis D, Vine AE, McQuillin A, Bass NJ, Pereira A, Kandaswamy R, Lawrence J, Anjorin A, Choudhury K, Datta SR, Puri V, Krasucki R, Pimm J, Thirumalai S, Quested D, Gurling HM (Feb 2011). "Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes". Psychiatric Genetics. 21 (1): 1–4. doi:10.1097/YPG.0b013e3283413382. PMC 3024533. PMID 21057379.
- ^ Schizophrenia Working Group of the Psychiatric Genomics Consortium (24. 7. 2014). "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421–427. Bibcode:2014Natur.511..421S. doi:10.1038/nature13595. ISSN 1476-4687. PMC 4112379. PMID 25056061.
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Dopunska literatura
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- Soldatov NM (maj 1992). "Molecular diversity of L-type Ca2+ channel transcripts in human fibroblasts". Proceedings of the National Academy of Sciences of the United States of America. 89 (10): 4628–32. Bibcode:1992PNAS...89.4628S. doi:10.1073/pnas.89.10.4628. PMC 49136. PMID 1316612.
- Powers PA, Gregg RG, Hogan K (Sep 1992). "Linkage mapping of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CACNL1A1) to chromosome 12p13.2-pter using a dinucleotide repeat". Genomics. 14 (1): 206–7. doi:10.1016/S0888-7543(05)80312-X. PMID 1330882.
- Sun W, McPherson JD, Hoang DQ, Wasmuth JJ, Evans GA, Montal M (Dec 1992). "Mapping of a human brain voltage-gated calcium channel to human chromosome 12p13-pter". Genomics. 14 (4): 1092–4. doi:10.1016/S0888-7543(05)80135-1. PMID 1335957.
- Powers PA, Gregg RG, Lalley PA, Liao M, Hogan K (Jul 1991). "Assignment of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CCHL1A1) to chromosome 12p12-pter". Genomics. 10 (3): 835–9. doi:10.1016/0888-7543(91)90471-P. PMID 1653763.
- Perez-Reyes E, Wei XY, Castellano A, Birnbaumer L (Nov 1990). "Molecular diversity of L-type calcium channels. Evidence for alternative splicing of the transcripts of three non-allelic genes". The Journal of Biological Chemistry. 265 (33): 20430–6. doi:10.1016/S0021-9258(17)30522-7. PMID 2173707.
- Soldatov NM, Bouron A, Reuter H (maj 1995). "Different voltage-dependent inhibition by dihydropyridines of human Ca2+ channel splice variants". The Journal of Biological Chemistry. 270 (18): 10540–3. doi:10.1074/jbc.270.18.10540. PMID 7737988.
- Soldatov NM (Jul 1994). "Genomic structure of human L-type Ca2+ channel". Genomics. 22 (1): 77–87. doi:10.1006/geno.1994.1347. PMID 7959794.
- Tang S, Mikala G, Bahinski A, Yatani A, Varadi G, Schwartz A (Jun 1993). "Molecular localization of ion selectivity sites within the pore of a human L-type cardiac calcium channel". The Journal of Biological Chemistry. 268 (18): 13026–9. doi:10.1016/S0021-9258(19)38613-2. PMID 8099908.
- Schultz D, Mikala G, Yatani A, Engle DB, Iles DE, Segers B, Sinke RJ, Weghuis DO, Klöckner U, Wakamori M (Jul 1993). "Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart". Proceedings of the National Academy of Sciences of the United States of America. 90 (13): 6228–32. Bibcode:1993PNAS...90.6228S. doi:10.1073/pnas.90.13.6228. PMC 46901. PMID 8392192.
- Perets T, Blumenstein Y, Shistik E, Lotan I, Dascal N (Apr 1996). "A potential site of functional modulation by protein kinase A in the cardiac Ca2+ channel alpha 1C subunit". FEBS Letters. 384 (2): 189–92. doi:10.1016/0014-5793(96)00303-1. PMID 8612821. S2CID 40550657.
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- Soldatov NM, Zühlke RD, Bouron A, Reuter H (Feb 1997). "Molecular structures involved in L-type calcium channel inactivation. Role of the carboxyl-terminal region encoded by exons 40-42 in alpha1C subunit in the kinetics and Ca2+ dependence of inactivation". The Journal of Biological Chemistry. 272 (6): 3560–6. doi:10.1074/jbc.272.6.3560. PMID 9013606.
- Klöckner U, Mikala G, Eisfeld J, Iles DE, Strobeck M, Mershon JL, Schwartz A, Varadi G (Mar 1997). "Properties of three COOH-terminal splice variants of a human cardiac L-type Ca2+-channel alpha1-subunit". The American Journal of Physiology. 272 (3 Pt 2): H1372–81. doi:10.1152/ajpheart.1997.272.3.H1372. PMID 9087614.
- Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Apr 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
- Gao T, Yatani A, Dell'Acqua ML, Sako H, Green SA, Dascal N, Scott JD, Hosey MM (Jul 1997). "cAMP-dependent regulation of cardiac L-type Ca2+ channels requires membrane targeting of PKA and phosphorylation of channel subunits". Neuron. 19 (1): 185–96. doi:10.1016/S0896-6273(00)80358-X. PMID 9247274. S2CID 3253007.
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Vanjski linkovi
[uredi | uredi izvor]- GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
- CACNA1C protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
- GeneReviews/NIH/NCBI/UW entry on Timothy Syndrome
Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.