Ca_v1.4

Cav1.4
Identifikatori
Aliasi	CACNA1F
Vanjski ID-jevi	OMIM: 300110 MGI: 1859639 HomoloGene: 74542 GeneCards: CACNA1F
Lokacija gena (čovjek)
Hrom.	Hromosom X
Kraj	49,233,371 bp
Lokacija gena (miš)
Hrom.	Hromosom X (miš)
Kraj	7,501,435 bp
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; • soma; • 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
	778
	54652
	ENSG00000102001
	ENSMUSG00000031142
	O60840
	Q9JIS7
	NM_001256789; NM_001256790; NM_005183
	NM_019582
	NP_001243718; NP_001243719; NP_005174
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000102001 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031142 - Ensembl, maj 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 ^c "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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000102001 - Ensembl, maj 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit".

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