RCC6L

RCC6L
Identifikatori
Aliasi	ERCC6L
Vanjski ID-jevi	OMIM: 300687 MGI: 2654144 HomoloGene: 44945 GeneCards: ERCC6L
Lokacija gena (čovjek)
Hrom.	Hromosom X
Kraj	72,239,027 bp
Lokacija gena (miš)
Hrom.	Hromosom X (miš)
Kraj	101,200,697 bp
Ontologija gena
Molekularna funkcija	• vezivanje sa DNK; • nucleotide binding; • GO:0008026 helicase activity; • GO:0001948, GO:0016582 vezivanje za proteine; • hydrolase activity; • ATP binding; • DNA translocase activity;
Ćelijska komponenta	• citosol; • membrana; • hromosom; • Primarno suženje; • kinetohor;
Biološki proces	• Ćelijska dioba; • ćelijski ciklus; • sister chromatid cohesion;
	Izvori:Amigo / QuickGO
Ortolozi
	54821
	236930
	ENSG00000186871
	ENSMUSG00000051220
	Q2NKX8
	Q8BHK9
	NM_017669; NM_001009954
	NM_146235
	NP_060139; NP_001009954
	NP_666347
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein ERCC popravka ekscizije 6-olikog proteina, helikaza kontrolne tačke vretenskog sklopa je protein koji je kod ljudi kodiran genom ERCC6L.^[5]

Funkcija

Ovaj gen kodira člana SWItch-nefermentabilne saharoze (SWI/SNF2) porodice proteina i sadrži domen ATPpazi sličnog SNF2 i domen porodice PICH. Jedna od obilježavajućih osobina ovog člana porodice proteina SWI/SNF je da su tokom interfaze protein isključeni iz jedra i povezuju se sa hromatinom nakon razlaganja jedarne ovojnice. Ovaj protein je DNK translokaza, za koju se smatra da veže dvolančanu DNK koja je izložena silama istezanja, poput onih koje vrši mitotsko vreteno. Ovaj protein pridružuje se na rDNK i ultrafine DNK mostove (UFB), fine strukture koje povezuju sestrinske hromatide tokom anafaze na nekim mjestima, kao što su krhka mjesta, telomere i centromere. Ovaj gen je potreban za vjernu segregaciju sestrinskih hromatida, tokom mitoze i aktivnosti ATPaze ovog proteina, potrebne za razlučivanje UFB-a prije citokineze.

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000186871 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000051220 - 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: ERCC excision repair 6 like, spindle assembly checkpoint helicase". Pristupljeno 29. 7. 2017.

Dopunska literatura

Xu Y, Chen X, Li Y (2005). "Ercc6l, a gene of SNF2 family, may play a role in the teratogenic action of alcohol". Toxicol. Lett. 157 (3): 233–239. doi:10.1016/j.toxlet.2005.02.013. PMID 15917148.
Baumann C, Körner R, Hofmann K, Nigg EA (2007). "PICH, a centromere-associated SNF2 family ATPase, is regulated by Plk1 and required for the spindle checkpoint". Cell. 128 (1): 101–114. doi:10.1016/j.cell.2006.11.041. PMID 17218258.
Spence JM, Phua HH, Mills W, Carpenter AJ, Porter AC, Farr CJ (2007). "Depletion of topoisomerase IIalpha leads to shortening of the metaphase interkinetochore distance and abnormal persistence of PICH-coated anaphase threads". J. Cell Sci. 120 (Pt 22): 3952–3964. doi:10.1242/jcs.013730. PMC 5500177. PMID 17956945.
Leng M, Bessuso D, Jung SY, Wang Y, Qin J (2008). "Targeting Plk1 to chromosome arms and regulating chromosome compaction by the PICH ATPase". Cell Cycle. 7 (10): 1480–1489. doi:10.4161/cc.7.10.5951. PMID 18418076.
Hübner NC, Wang LH, Kaulich M, Descombes P, Poser I, Nigg EA (2010). "Re-examination of siRNA specificity questions role of PICH and Tao1 in the spindle checkpoint and identifies Mad2 as a sensitive target for small RNAs". Chromosoma. 119 (2): 149–165. doi:10.1007/s00412-009-0244-2. PMC 2846388. PMID 19904549.
Kurasawa Y, Yu-Lee LY (2010). "PICH and cotargeted Plk1 coordinately maintain prometaphase chromosome arm architecture". Mol. Biol. Cell. 21 (7): 1188–1199. doi:10.1091/mbc.E09-11-0950. PMC 2847523. PMID 20130082.
Ke Y, Huh JW, Warrington R, Li B, Wu N, Leng M, Zhang J, Ball HL, Li B, Yu H (2011). "PICH and BLM limit histone association with anaphase centromeric DNA threads and promote their resolution". EMBO J. 30 (16): 3309–3321. doi:10.1038/emboj.2011.226. PMC 3160651. PMID 21743438.
Rouzeau S, Cordelières FP, Buhagiar-Labarchède G, Hurbain I, Onclercq-Delic R, Gemble S, Magnaghi-Jaulin L, Jaulin C, Amor-Guéret M (2012). "Bloom's syndrome and PICH helicases cooperate with topoisomerase IIα in centromere disjunction before anaphase". PLoS ONE. 7 (4): e33905. doi:10.1371/journal.pone.0033905. PMC 3338505. PMID 22563370.
Biebricher A, Hirano S, Enzlin JH, Wiechens N, Streicher WW, Huttner D, Wang LH, Nigg EA, Owen-Hughes T, Liu Y, Peterman E, Wuite GJ, Hickson ID (2013). "PICH: a DNA translocase specially adapted for processing anaphase bridge DNA". Mol. Cell. 51 (5): 691–701. doi:10.1016/j.molcel.2013.07.016. PMC 4161920. PMID 23973328.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000186871 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000051220 - 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: ERCC excision repair 6 like, spindle assembly checkpoint helicase". Pristupljeno 29. 7. 2017.

[1]