CLCNKB

CLCNKB
Identifikatori
Aliasi	CLCNKB
Vanjski ID-jevi	OMIM: 602023 MGI: 1329026 HomoloGene: 65 GeneCards: CLCNKB
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	16,057,311 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	141,126,035 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• vezivanje iona metala; • voltage-gated ion channel activity; • chloride channel activity; • voltage-gated chloride channel activity;
Ćelijska komponenta	• integral component of membrane; • ćelijska membrana; • integral component of plasma membrane; • chloride channel complex; • membrana;
Biološki proces	• ion transmembrane transport; • chloride transport; • izlučivanje; • regulation of ion transmembrane transport; • ion transport; • transmembrane transport; • chloride transmembrane transport;
	Izvori:Amigo / QuickGO
Ortolozi
	1188
	12733
	ENSG00000184908
	ENSMUSG00000033770
	P51801
	Q9WUB7
	NM_000085; NM_001165945
	NM_001146307; NM_024412
	NP_000076; NP_001159417
	NP_001139779; NP_077723
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Hloridni kanal Kb, znan i kao CLCNKB, jest protein koji je kod ljudi kodiran genom CLCNKB sa hromosoma 1.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 687 aminokiselina, a molekulska težina 75.446 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
MEEFVGLREG	SSGNPVTLQE	LWGPCPRIRR	GIRGGLEWLK	QKLFRLGEDW
YFLMTLGVLM	ALVSCAMDLA	VESVVRAHQW	LYREIGDSHL	LRYLSWTVYP
VALVSFSSGF	SQSITPSSGG	SGIPEVKTML	AGVVLEDYLD	IKNFGAKVVG
LSCTLACGST	LFLGKVGPFV	HLSVMMAAYL	GRVRTTTIGE	PENKSKQNEM
LVAAAAVGVA	TVFAAPFSGV	LFSIEVMSSH	FSVWDYWRGF	FAATCGAFMF
RLLAVFNSEQ	ETITSLYKTS	FRVDVPFDLP	EIFFFVALGG	LCGILGSAYL
FCQRIFFGFI	RNNRFSSKLL	ATSKPVYSAL	ATLVLASITY	PPSAGRFLAS
RLSMKQHLDS	LFDNHSWALM	TQNSSPPWPE	ELDPQHLWWE	WYHPRFTIFG
TLAFFLVMKF	WMLILATTIP	MPAGYFMPIF	VYGAAIGRLF	GETLSFIFPE
GIVAGGITNP	IMPGGYALAG	AAAFSGAVTH	TISTALLAFE	VTGQIVHALP
VLMAVLAANA	IAQSCQPSFY	DGTVIVKKLP	YLPRILGRNI	GSHRVRVEHF
MNHSITTLAK	DMPLEEVVKV	VTSTDVAKYP	LVESTESQIL	VGIVRRAQLV
QALKAEPPSW	APGHQQCLQD	ILAAGCPTEP	VTLKLSPETS	LHEAHNLFEL
LNLHSLFVTS	RGRAVGCVSW	VEMKKAISNL	TNPPAPK

Funkcija

Hloridni kanal Kb (CLCNKB) je član porodice CLC naponski-ovisnih hloridnih kanala, koji sadrži najmanje 9 hloridnih kanala sisara.^[7] Vjeruje se da svaki ima 12 transmembranskih domena i unutarćelijske N- i C-krajeve. Mutacije u CLCNKB dovode do autosomno recesivnog tipa III Bartterovog sindroma.^[8] CLCNKA i CLCNKB su usko povezani (94% identičnost sekvence), čvrsto povezani (odvojeni sa 11 kb genomske sekvence) i oba su eksprimirana u bubrezima sisara.^[5]

Također pogledajte

Hloridni kanal
BSND, bartin, pomoćna podjedinica beta za ovaj kanal

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000184908 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033770 - 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: CLCNKB chloride channel Kb".
^ Saito-Ohara F, Uchida S, Takeuchi Y, Sasaki S, Hayashi A, Marumo F, Ikeuchi T (septembar 1996). "Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization". Genomics. 36 (2): 372–4. doi:10.1006/geno.1996.0479. PMID 8812470.
^ Jentsch TJ, Günther W (februar 1997). "Chloride channels: an emerging molecular picture". BioEssays. 19 (2): 117–26. doi:10.1002/bies.950190206. PMID 9046241. S2CID 19904492.
^ Krämer BK, Bergler T, Stoelcker B, Waldegger S (januar 2008). "Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance". Nat Clin Pract Nephrol. 4 (1): 38–46. doi:10.1038/ncpneph0689. PMID 18094726. S2CID 25570342.

Dopunska literatura

Kieferle S, Fong P, Bens M, et al. (1994). "Two highly homologous members of the ClC chloride channel family in both rat and human kidney". Proc. Natl. Acad. Sci. U.S.A. 91 (15): 6943–7. Bibcode:1994PNAS...91.6943K. doi:10.1073/pnas.91.15.6943. PMC 44314. PMID 8041726.
Takeuchi Y, Uchida S, Marumo F, Sasaki S (1996). "Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney". Kidney Int. 48 (5): 1497–503. doi:10.1038/ki.1995.439. PMID 8544406.
Saito-Ohara F, Uchida S, Takeuchi Y, et al. (1997). "Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization". Genomics. 36 (2): 372–4. doi:10.1006/geno.1996.0479. PMID 8812470.
Simon DB, Bindra RS, Mansfield TA, et al. (1997). "Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III". Nat. Genet. 17 (2): 171–8. doi:10.1038/ng1097-171. PMID 9326936. S2CID 10914641.
Konrad M, Vollmer M, Lemmink HH, et al. (2000). "Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome". J. Am. Soc. Nephrol. 11 (8): 1449–59. doi:10.1681/ASN.V1181449. PMID 10906158.
Jeck N, Konrad M, Peters M, et al. (2001). "Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype". Pediatr. Res. 48 (6): 754–8. doi:10.1203/00006450-200012000-00009. PMID 11102542.
Estévez R, Boettger T, Stein V, et al. (2002). "Barttin is a Cl⁻ channel beta-subunit crucial for renal Cl⁻ reabsorption and inner ear K⁺ secretion". Nature. 414 (6863): 558–61. Bibcode:2001Natur.414..558E. doi:10.1038/35107099. PMID 11734858. S2CID 4407807.
Colussi G, De Ferrari ME, Tedeschi S, et al. (2002). "Bartter syndrome type 3: an unusual cause of nephrolithiasis". Nephrol. Dial. Transplant. 17 (3): 521–3. doi:10.1093/ndt/17.3.521. PMID 11865110.
Zelikovic I, Szargel R, Hawash A, et al. (2004). "A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes". Kidney Int. 63 (1): 24–32. doi:10.1046/j.1523-1755.2003.00730.x. PMID 12472765.
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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Maehara H, Okamura HO, Kobayashi K, et al. (2003). "Expression of CLC-KB gene promoter in the mouse cochlea". NeuroReport. 14 (12): 1571–3. doi:10.1097/00001756-200308260-00006. PMID 14502078. S2CID 32639843.
Jeck N, Waldegger P, Doroszewicz J, et al. (2004). "A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity". Kidney Int. 65 (1): 190–7. doi:10.1111/j.1523-1755.2004.00363.x. PMID 14675050.
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.
Schlingmann KP, Konrad M, Jeck N, et al. (2004). "Salt wasting and deafness resulting from mutations in two chloride channels". N. Engl. J. Med. 350 (13): 1314–9. doi:10.1056/NEJMoa032843. PMID 15044642. S2CID 30018159.
Jeck N, Waldegger S, Lampert A, et al. (2004). "Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension". Hypertension. 43 (6): 1175–81. doi:10.1161/01.HYP.0000129824.12959.f0. PMID 15148291.
Fukuyama S, Hiramatsu M, Akagi M, et al. (2004). "Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria". J. Clin. Endocrinol. Metab. 89 (11): 5847–50. doi:10.1210/jc.2004-0775. PMID 15531551.
Speirs HJ, Wang WY, Benjafield AV, Morris BJ (2005). "No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36". J. Hypertens. 23 (8): 1491–6. doi:10.1097/01.hjh.0000174300.73992.cc. PMID 16003175. S2CID 8317422.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Gorgojo JJ, Donnay S, Jeck N, Konrad M (2006). "A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age". Horm. Res. 65 (2): 62–8. doi:10.1159/000090601. PMID 16391491. S2CID 19494002.
Scholl U, Hebeisen S, Janssen AG, et al. (2006). "Barttin modulates trafficking and function of ClC-K channels". Proc. Natl. Acad. Sci. U.S.A. 103 (30): 11411–6. Bibcode:2006PNAS..10311411S. doi:10.1073/pnas.0601631103. PMC 1544099. PMID 16849430.

Vanbjski linkovi

CLCNKB protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
Lokacija ljudskog genoma CLCNKB i stranica sa detaljima o genu CLCNKB 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: ENSG00000184908 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000033770 - 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: CLCNKB chloride channel Kb".

[pmid8812470-6] Saito-Ohara F, Uchida S, Takeuchi Y, Sasaki S, Hayashi A, Marumo F, Ikeuchi T (septembar 1996). "Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization". Genomics. 36 (2): 372–4. doi:10.1006/geno.1996.0479. PMID 8812470.

[pmid9046241-7] Jentsch TJ, Günther W (februar 1997). "Chloride channels: an emerging molecular picture". BioEssays. 19 (2): 117–26. doi:10.1002/bies.950190206. PMID 9046241. S2CID 19904492.

[pmid18094726-8] Krämer BK, Bergler T, Stoelcker B, Waldegger S (januar 2008). "Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance". Nat Clin Pract Nephrol. 4 (1): 38–46. doi:10.1038/ncpneph0689. PMID 18094726. S2CID 25570342.

[5]

[6]

[1]

[2]

[3]

[4]

[7]

[8]