Cav1.4

Ca_v1.4 također poznat kao naponski ovisna podjedinica 1F l-tipa kalcijskog kanala (CACNA1F), je ljudski gen na p kraku hromosoma X.^[5]

Cav1.4
Identifikatori
Aliasi	CACNA1F
Vanjski ID-jevi	OMIM: 300110 MGI: 1859639 HomoloGene: 74542 GeneCards: CACNA1F
Lokacija gena (čovjek) Hrom. Hromosom X[1] Bend Xp11.23 Početak 49,205,063 bp[1] Kraj 49,233,371 bp[1]
Lokacija gena (miš) Hrom. Hromosom X (miš)[2] Bend X A1.1|X 3.42 cM Početak 7,473,322 bp[2] Kraj 7,501,435 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • calcium channel activity • vezivanje iona metala • voltage-gated ion channel activity • ion channel activity • voltage-gated calcium channel activity • GO:0001948, GO:0016582 vezivanje za proteine • high voltage-gated calcium channel activity Ćelijska komponenta • membrana • ćelijska membrana • neuronal cell body • integral component of membrane • perikaryon • photoreceptor outer segment • Naponom kontrolirani kalcijev kanal Biološki proces • membrane depolarization during action potential • response to stimulus • regulation of T cell receptor signaling pathway • regulation of ion transmembrane transport • ion transport • detection of light stimulus involved in visual perception • T cell homeostasis • calcium ion transmembrane transport • transmembrane transport • calcium ion transport • Vid • negative regulation of voltage-gated calcium channel activity • calcium ion import • cardiac conduction Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	778	54652
Ensembl	ENSG00000102001	ENSMUSG00000031142
UniProt	O60840	Q9JIS7
RefSeq (mRNK)	NM_001256789 NM_001256790 NM_005183	NM_019582
RefSeq (bjelančevina)	NP_001243718 NP_001243719 NP_005174	n/a
Lokacija (UCSC)	Chr X: 49.21 – 49.23 Mb	Chr X: 7.47 – 7.5 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 1.977 aminokiselina, a molekulska težina 220.678 Da.^[5]

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

10		20		30		40		50
MSESEGGKDT		TPEPSPANGA		GPGPEWGLCP		GPPAVEGESS		GASGLGTPKR
RNQHSKHKTV		AVASAQRSPR		ALFCLTLANP		LRRSCISIVE		WKPFDILILL
TIFANCVALG		VYIPFPEDDS		NTANHNLEQV		EYVFLVIFTV		ETVLKIVAYG
LVLHPSAYIR		NGWNLLDFII		VVVGLFSVLL		EQGPGRPGDA		PHTGGKPGGF
DVKALRAFRV		LRPLRLVSGV		PSLHIVLNSI		MKALVPLLHI		ALLVLFVIII
YAIIGLELFL		GRMHKTCYFL		GSDMEAEEDP		SPCASSGSGR		ACTLNQTECR
GRWPGPNGGI		TNFDNFFFAM		LTVFQCVTME		GWTDVLYWMQ		DAMGYELPWV
YFVSLVIFGS		FFVLNLVLGV		LSGEFSKERE		KAKARGDFQK		QREKQQMEED
LRGYLDWITQ		AEELDMEDPS		ADDNLGSMAE		EGRAGHRPQL		AELTNRRRGR
LRWFSHSTRS		THSTSSHASL		PASDTGSMTE		TQGDEDEEEG		ALASCTRCLN
KIMKTRVCRR		LRRANRVLRA		RCRRAVKSNA		CYWAVLLLVF		LNTLTIASEH
HGQPVWLTQI		QEYANKVLLC		LFTVEMLLKL		YGLGPSAYVS		SFFNRFDCFV
VCGGILETTL		VEVGAMQPLG		ISVLRCVRLL		RIFKVTRHWA		SLSNLVASLL
NSMKSIASLL		LLLFLFIIIF		SLLGMQLFGG		KFNFDQTHTK		RSTFDTFPQA
LLTVFQILTG		EDWNVVMYDG		IMAYGGPFFP		GMLVCIYFII		LFICGNYILL
NVFLAIAVDN		LASGDAGTAK		DKGGEKSNEK		DLPQENEGLV		PGVEKEEEEG
ARREGADMEE		EEEEEEEEEE		EEEEEGAGGV		ELLQEVVPKE		KVVPIPEGSA
FFCLSQTNPL		RKGCHTLIHH		HVFTNLILVF		IILSSVSLAA		EDPIRAHSFR
NHILGYFDYA		FTSIFTVEIL		LKMTVFGAFL		HRGSFCRSWF		NMLDLLVVSV
SLISFGIHSS		AISVVKILRV		LRVLRPLRAI		NRAKGLKHVV		QCVFVAIRTI
GNIMIVTTLL		QFMFACIGVQ		LFKGKFYTCT		DEAKHTPQEC		KGSFLVYPDG
DVSRPLVRER		LWVNSDFNFD		NVLSAMMALF		TVSTFEGWPA		LLYKAIDAYA
EDHGPIYNYR		VEISVFFIVY		IIIIAFFMMN		IFVGFVIITF		RAQGEQEYQN
CELDKNQRQC		VEYALKAQPL		RRYIPKNPHQ		YRVWATVNSA		AFEYLMFLLI
LLNTVALAMQ		HYEQTAPFNY		AMDILNMVFT		GLFTIEMVLK		IIAFKPKHYF
TDAWNTFDAL		IVVGSIVDIA		VTEVNNGGHL		GESSEDSSRI		SITFFRLFRV
MRLVKLLSKG		EGIRTLLWTF		IKSFQALPYV		ALLIAMIFFI		YAVIGMQMFG
KVALQDGTQI		NRNNNFQTFP		QAVLLLFRCA		TGEAWQEIML		ASLPGNRCDP
ESDFGPGEEF		TCGSNFAIAY		FISFFMLCAF		LIINLFVAVI		MDNFDYLTRD
WSILGPHHLD		EFKRIWSEYD		PGAKGRIKHL		DVVALLRRIQ		PPLGFGKLCP
HRVACKRLVA		MNMPLNSDGT		VTFNATLFAL		VRTSLKIKTE		GNLEQANQEL
RIVIKKIWKR		MKQKLLDEVI		PPPDEEEVTV		GKFYATFLIQ		DYFRKFRRRK
EKGLLGNDAA		PSTSSALQAG		LRSLQDLGPE		MRQALTCDTE		EEEEEGQEGV
EEEDEKDLET		NKATMVSQPS		ARRGSGISVS		LPVGDRLPDS		LSFGPSDDDR
GTPTSSQPSV		PQAGSNTHRR		GSGALIFTIP		EEGNSQPKGT		KGQNKQDEDE
EVPDRLSYLD		EQAGTPPCSV		LLPPHRAQRY		MDGHLVPRRR		LLPPTPAGRK
PSFTIQCLQR		QGSCEDLPIP		GTYHRGRNSG		PNRAQGSWAT		PPQRGRLLYA
PLLLVEEGAA		GEGYLGRSSG		PLRTFTCLHV		PGTHSDPSHG		KRGSADSLVE
AVLISEGLGL		FARDPRFVAL		AKQEIADACR		LTLDEMDNAA		SDLLAQGTSS
LYSDEESILS		RFDEEDLGDE		MACVHAL

Funkcija

Ovaj gen kodira člana porodice alfa-1 podjedinica; a protein u kompleksu naponski ovisnog kalcijskog kanala. Kalcijski kanali posreduju u dotoku iona kalcija u ćeliju nakon polarizaciji membrane i sastoje se od kompleksa podjedinica alfa-1, alfa-2/delta, beta i gama u omjeru 1:1:1:1. Alfa-1 podjedinica ima 24 transmembranska segmenta i formira pore kroz koje ioni prolaze u ćeliju. Postoji više izoformi svakog od proteina u kompleksu, bilo kodiranih različitim genima ili rezultat alternativne prerade transkripata. Alternativne varijante transkripta prerade gena opisanih ovdje su uočene, ali nisu detaljno okarakterisane. Pokazalo se da mutacije u ovom genu uzrokuju nepotpuno X-vezano kongenitalno stacionarno noćno sljepilo tip 2 (CSNB2).^[5]

Također pogledajte

• Kalcijski kanal

Reference

1. GRCh38: Ensembl release 89: ENSG00000102001 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031142 - Ensembl, maj 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit".

Dopunska literatura

• 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.
• Koenekoop RK, Lopez I, den Hollander AI, et al. (2007). "Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions". Clin. Experiment. Ophthalmol. 35 (5): 473–85. doi:10.1111/j.1442-9071.2007.01534.x. PMID 17651254. S2CID 37487873.
• Tremblay F, Laroche RG, De Becker I (1995). "The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness". Vision Res. 35 (16): 2383–93. doi:10.1016/0042-6989(95)00006-L. PMID 7571473.
• Bergen AA, ten Brink JB, Riemslag F, et al. (1995). "Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region". Hum. Mol. Genet. 4 (5): 931–5. doi:10.1093/hmg/4.5.931. PMID 7633454.
• Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
• Bergen AA, ten Brink JB, Riemslag F, et al. (1997). "Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1". J. Med. Genet. 33 (10): 869–72. doi:10.1136/jmg.33.10.869. PMC 1050769. PMID 8933343.
• Fisher SE, Ciccodicola A, Tanaka K, et al. (1998). "Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp". Genomics. 45 (2): 340–7. doi:10.1006/geno.1997.4941. hdl:11858/00-001M-0000-0012-CBE6-7. PMID 9344658.
• Strom TM, Nyakatura G, Apfelstedt-Sylla E, et al. (1998). "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness". Nat. Genet. 19 (3): 260–3. doi:10.1038/940. PMID 9662399. S2CID 34467174.
• Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. (1998). "Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness". Nat. Genet. 19 (3): 264–7. doi:10.1038/947. PMID 9662400. S2CID 42480901.
• Naylor MJ, Rancourt DE, Bech-Hansen NT (2000). "Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness". Genomics. 66 (3): 324–7. doi:10.1006/geno.2000.6204. PMID 10873387.
• Boycott KM, Pearce WG, Bech-Hansen NT (2000). "Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F". Can. J. Ophthalmol. 35 (4): 204–13. doi:10.1016/s0008-4182(00)80031-9. PMID 10900517.
• Boycott KM, Maybaum TA, Naylor MJ, et al. (2001). "A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants". Hum. Genet. 108 (2): 91–7. doi:10.1007/s004390100461. PMID 11281458. S2CID 2844173.
• Wutz K, Sauer C, Zrenner E, et al. (2003). "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina". Eur. J. Hum. Genet. 10 (8): 449–56. doi:10.1038/sj.ejhg.5200828. PMID 12111638.
• Weleber RG (2002). "Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)". Ophthalmic Genet. 23 (2): 71–97. doi:10.1076/opge.23.2.71.2214. PMID 12187427. S2CID 30741530.
• Zito I, Allen LE, Patel RJ, et al. (2003). "Mutations in the CACNA1F and NYX genes in British CSNBX families". Hum. Mutat. 21 (2): 169. doi:10.1002/humu.9106. PMID 12552565. S2CID 13143864.
• Jacobi FK, Hamel CP, Arnaud B, et al. (2003). "A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness". Am. J. Ophthalmol. 135 (5): 733–6. doi:10.1016/S0002-9394(02)02109-8. PMID 12719097.
• Jalkanen R, Demirci FY, Tyynismaa H, et al. (2003). "A new genetic locus for X linked progressive cone-rod dystrophy". J. Med. Genet. 40 (6): 418–23. doi:10.1136/jmg.40.6.418. PMC 1735490. PMID 12807962.
• Koschak A, Reimer D, Walter D, et al. (2003). "Cav1.4alpha1 subunits can form slowly inactivating dihydropyridine-sensitive L-type Ca2+ channels lacking Ca2+-dependent inactivation". J. Neurosci. 23 (14): 6041–9. doi:10.1523/JNEUROSCI.23-14-06041.2003. PMC 6740341. PMID 12853422.
• Nakamura M, Ito S, Piao CH, et al. (2003). "Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family". Arch. Ophthalmol. 121 (7): 1028–33. doi:10.1001/archopht.121.7.1028. PMID 12860808.
• Kotturi MF, Carlow DA, Lee JC, et al. (2004). "Identification and functional characterization of voltage-dependent calcium channels in T lymphocytes". J. Biol. Chem. 278 (47): 46949–60. doi:10.1074/jbc.M309268200. PMID 12954628.

Vanjski linkovi

• GeneReviews/NCBI/NIH/UW entry on X-Linked Congenital Stationary Night Blindness
• CACNA1F protein, human na US National Library of Medicine Medical Subject Headings (MeSH)

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.