CLCN7

CLCN7
Identifikatori
Aliasi	CLCN7
Vanjski ID-jevi	OMIM: 602727 MGI: 1347048 HomoloGene: 56546 GeneCards: CLCN7
Lokacija gena (čovjek)
Hrom.	Hromosom 16 (čovjek)
Kraj	1,475,084 bp
Lokacija gena (miš)
Hrom.	Hromosom 17 (miš)
Kraj	25,381,078 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• nucleotide binding; • ion channel activity; • antiporter activity; • ATP binding; • chloride channel activity; • voltage-gated chloride channel activity; • GO:0001948, GO:0016582 vezivanje za proteine; • chloride transmembrane transporter activity; • GO:0022891 transmembrane transporter activity;
Ćelijska komponenta	• integral component of membrane; • Lizozom; • GO:0016023 citoplazmatska vezikula; • lysosomal membrane; • membrana; • nukleoplazma; • intracellular membrane-bounded organelle;
Biološki proces	• ion transmembrane transport; • chloride transport; • ion transport; • regulation of anion transmembrane transport; • response to pH; • transmembrane transport; • chloride transmembrane transport; • GO:0015915 transport;
	Izvori:Amigo / QuickGO
Ortolozi
	1186
	26373
	ENSG00000103249
	ENSMUSG00000036636
	P51798
	O70496
	NM_001114331; NM_001287
	NM_011930; NM_001317404
	NP_001107803; NP_001278
	NP_001304333; NP_036060
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Podjedinica alfa hlornog kanala 7, znana i kao H⁺/Cl⁻ razmjenski transporter 7 jest protein koji je kod ljudi kodiran genom CLCN7 sa hromosoma 7.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 805 aminokiselina, a molekulska težina 88.679 Da.^[6]

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
MANVSKKVSW	SGRDRDDEEA	APLLRRTARP	GGGTPLLNGA	GPGAARQSPR
SALFRVGHMS	SVELDDELLD	PDMDPPHPFP	KEIPHNEKLL	SLKYESLDYD
NSENQLFLEE	ERRINHTAFR	TVEIKRWVIC	ALIGILTGLV	ACFIDIVVEN
LAGLKYRVIK	GNIDKFTEKG	GLSFSLLLWA	TLNAAFVLVG	SVIVAFIEPV
AAGSGIPQIK	CFLNGVKIPH	VVRLKTLVIK	VSGVILSVVG	GLAVGKEGPM
IHSGSVIAAG	ISQGRSTSLK	RDFKIFEYFR	RDTEKRDFVS	AGAAAGVSAA
FGAPVGGVLF	SLEEGASFWN	QFLTWRIFFA	SMISTFTLNF	VLSIYHGNMW
DLSSPGLINF	GRFDSEKMAY	TIHEIPVFIA	MGVVGGVLGA	VFNALNYWLT
MFRIRYIHRP	CLQVIEAVLV	AAVTATVAFV	LIYSSRDCQP	LQGGSMSYPL
QLFCADGEYN	SMAAAFFNTP	EKSVVSLFHD	PPGSYNPLTL	GLFTLVYFFL
ACWTYGLTVS	AGVFIPSLLI	GAAWGRLFGI	SLSYLTGAAI	WADPGKYALM
GAAAQLGGIV	RMTLSLTVIM	MEATSNVTYG	FPIMLVLMTA	KIVGDVFIEG
LYDMHIQLQS	VPFLHWEAPV	TSHSLTAREV	MSTPVTCLRR	REKVGVIVDV
LSDTASNHNG	FPVVEHADDT	QPARLQGLIL	RSQLIVLLKH	KVFVERSNLG
LVQRRLRLKD	FRDAYPRFPP	IQSIHVSQDE	RECTMDLSEF	MNPSPYTVPQ
EASLPRVFKL	FRALGLRHLV	VVDNRNQVVG	LVTRKDLARY	RLGKRGLEEL
SLAQT

Funkcija

U melanocitnim ćelijama ovaj gen je reguliran mikroftalmijom pridruženim transkripcijskim faktorom.^[7]^[8]

Klinički značaj

Prijavljeno je da su mutacije u genu CLCN7 povezane s autosomno dominantnom osteopetrozom tipom II, rijetkom bolešću kostiju.^[9]

Također pogledajte

Hloridni kanal

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000103249 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036636 - 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.
^ "Entrez Gene: CLCN7 chloride channel 7".
^ "UniProt, P51798" (jezik: engleski). Pristupljeno 14. 1. 2022.
^ Meadows NA, Sharma SM, Faulkner GJ, Ostrowski MC, Hume DA, Cassady AI (2007). "The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor". J. Biol. Chem. 282 (3): 1891–904. doi:10.1074/jbc.M608572200. PMID 17105730.
^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.
^ Coudert AE, Del Fattore A, Baulard C, Olaso R, Schiltz C, Collet C, Teti A, de Vernejoul MC (2014). "Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology" (PDF). Lab. Invest. 94 (3): 275–85. doi:10.1038/labinvest.2013.140. PMID 24336069. S2CID 5097233.

Dopunska literatura

Brandt S, Jentsch TJ (1996). "ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family". FEBS Lett. 377 (1): 15–20. doi:10.1016/0014-5793(95)01298-2. PMID 8543009. S2CID 717696.
Héon E, Piguet B, Munier F, et al. (1996). "Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21". Arch. Ophthalmol. 114 (2): 193–8. doi:10.1001/archopht.1996.01100130187014. PMID 8573024.
Lennon G, Auffray C, Polymeropoulos M, Soares MB (1996). "The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression". Genomics. 33 (1): 151–2. doi:10.1006/geno.1996.0177. PMID 8617505.
Eggermont J (1998). "The exon-intron architecture of human chloride channel genes is not conserved". Biochim. Biophys. Acta. 1397 (2): 156–60. doi:10.1016/s0167-4781(98)00014-1. PMID 9565675.
White KE, Koller DL, Takacs I, et al. (1999). "Locus heterogeneity of autosomal dominant osteopetrosis (ADO)". J. Clin. Endocrinol. Metab. 84 (3): 1047–51. doi:10.1210/jc.84.3.1047. PMID 10084593.
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.
Kornak U, Kasper D, Bösl MR, et al. (2001). "Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man". Cell. 104 (2): 205–15. doi:10.1016/S0092-8674(01)00206-9. PMID 11207362.
Cleiren E, Bénichou O, Van Hul E, et al. (2002). "Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene". Hum. Mol. Genet. 10 (25): 2861–7. doi:10.1093/hmg/10.25.2861. PMID 11741829.
Harada K, Toyooka S, Maitra A, et al. (2002). "Aberrant promoter methylation and silencing of the RASSF1A gene in pediatric tumors and cell lines". Oncogene. 21 (27): 4345–9. doi:10.1038/sj.onc.1205446. PMID 12082624.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Campos-Xavier AB, Saraiva JM, Ribeiro LM, et al. (2003). "Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis". Hum. Genet. 112 (2): 186–9. doi:10.1007/s00439-002-0861-9. PMID 12522560. S2CID 33010093.
Waguespack SG, Koller DL, White KE, et al. (2004). "Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II". J. Bone Miner. Res. 18 (8): 1513–8. doi:10.1359/jbmr.2003.18.8.1513. PMID 12929941. S2CID 23907779.
Frattini A, Pangrazio A, Susani L, et al. (2004). "Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis". J. Bone Miner. Res. 18 (10): 1740–7. doi:10.1359/jbmr.2003.18.10.1740. PMID 14584882. S2CID 20966489.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Henriksen K, Gram J, Schaller S, et al. (2004). "Characterization of Osteoclasts from Patients Harboring a G215R Mutation in ClC-7 Causing Autosomal Dominant Osteopetrosis Type II". Am. J. Pathol. 164 (5): 1537–45. doi:10.1016/S0002-9440(10)63712-1. PMC 1615650. PMID 15111300.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Köttgen M, Benzing T, Simmen T, et al. (2005). "Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation". EMBO J. 24 (4): 705–16. doi:10.1038/sj.emboj.7600566. PMC 549624. PMID 15692563.
Pettersson U, Albagha OM, Mirolo M, et al. (2006). "Polymorphisms of the CLCN7 gene are associated with BMD in women". J. Bone Miner. Res. 20 (11): 1960–7. doi:10.1359/JBMR.050717. PMID 16234969. S2CID 22530335.
Kornak U, Ostertag A, Branger S, et al. (2006). "Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II". J. Clin. Endocrinol. Metab. 91 (3): 995–1000. doi:10.1210/jc.2005-2017. PMID 16368748.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

Vanjski linkovi

GeneReviews/NCBI/NIH/UW entry on CLCN7-Related Osteopetrosis
CLCN7 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
Lokacija ljudskog genoma CLCN7 i stranica sa detaljima o genu CLCN7 u UCSC Genome Browseru.

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000103249 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036636 - 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: CLCN7 chloride channel 7".

[UniProt-6] "UniProt, P51798" (jezik: engleski). Pristupljeno 14. 1. 2022.

[pmid17105730-7] Meadows NA, Sharma SM, Faulkner GJ, Ostrowski MC, Hume DA, Cassady AI (2007). "The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor". J. Biol. Chem. 282 (3): 1891–904. doi:10.1074/jbc.M608572200. PMID 17105730.

[pmid19067971-8] Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.

[pmid24336069-9] Coudert AE, Del Fattore A, Baulard C, Olaso R, Schiltz C, Collet C, Teti A, de Vernejoul MC (2014). "Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology" (PDF). Lab. Invest. 94 (3): 275–85. doi:10.1038/labinvest.2013.140. PMID 24336069. S2CID 5097233.

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