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ERCC6L
Identifiers
Aliases	ERCC6L, PICH, RAD26L, excision repair cross-complementation group 6 like, ERCC excision repair 6 like, spindle assembly checkpoint helicase
External IDs	OMIM: 300687; MGI: 2654144; HomoloGene: 44945; GeneCards: ERCC6L; OMA:ERCC6L - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xq13.1 Start 72,204,657 bp End 72,239,027 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X D Start 101,185,322 bp End 101,200,697 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte gonad ventricular zone testicle embryo ganglionic eminence stromal cell of endometrium trabecular bone bone marrow mucosa of transverse colon Top expressed in primary oocyte zygote secondary oocyte tail of embryo genital tubercle epiblast primitive streak maxillary prominence ureter abdominal wall More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding nucleotide binding helicase activity protein binding hydrolase activity ATP binding DNA translocase activity Cellular component cytosol membrane chromosome chromosome, centromeric region kinetochore Biological process cell division cell cycle sister chromatid cohesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54821 236930 Ensembl ENSG00000186871 ENSMUSG00000051220 UniProt Q2NKX8 Q8BHK9 RefSeq (mRNA) NM_017669 NM_001009954 NM_146235 RefSeq (protein) NP_060139 NP_001009954 NP_666347 Location (UCSC) Chr X: 72.2 – 72.24 Mb Chr X: 101.19 – 101.2 Mb PubMed search
Wikidata
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ERCC excision repair 6 like, spindle assembly checkpoint helicase is a protein that in humans is encoded by the ERCC6L gene.

Function

This gene encodes a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF2) family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/SNF protein family member is that during interphase, the protein is excluded from the nucleus, and only associates with chromatin after the nuclear envelope has broken down. This protein is a DNA translocase that is thought to bind double-stranded DNA that is exposed to stretching forces, such as those exerted by the mitotic spindle. This protein associates with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine structures that connect sister chromatids during anaphase at some sites such as fragile sites, telomeres and centromeres. This gene is required for the faithful segregation of sister chromatids during mitosis, and the ATPase activity of this protein required for the resolution of UFBs before cytokinesis.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000186871 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000051220 – Ensembl, May 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: ERCC excision repair 6 like, spindle assembly checkpoint helicase". Retrieved 2017-07-29.

Further reading

• 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. Bibcode:2012PLoSO...733905R. 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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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