Exosome component 10

EXOSC10
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2CPR, 3SAF, 3SAG, 3SAH
Identifiers
Aliases	EXOSC10 , PM-Scl, PM/Scl-100, PMSCL, PMSCL2, RRP6, Rrp6p, p2, p3, p4, exosome component 10
External IDs	OMIM: 605960; MGI: 1355322; HomoloGene: 31105; GeneCards: EXOSC10; OMA:EXOSC10 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p36.22 Start 11,066,618 bp [1] End 11,099,869 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 E2 Start 148,642,886 bp [2] End 148,666,858 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar hemisphere right hemisphere of cerebellum tibial nerve sural nerve Achilles tendon left ovary right ovary body of uterus canal of the cervix right uterine tube Top expressed in genital tubercle tail of embryo seminiferous tubule maxillary prominence mandibular prominence fetal liver hematopoietic progenitor cell spermatocyte otic placode neural tube otic vesicle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding exoribonuclease activity protein binding catalytic activity 3'-5' exonuclease activity nucleic acid binding nuclease activity exonuclease activity hydrolase activity RNA binding 3'-5'-exoribonuclease activity telomerase RNA binding single-stranded RNA binding Cellular component cytoplasm exosome (RNase complex) membrane nuclear exosome (RNase complex) intracellular anatomical structure nucleolus nucleus nucleoplasm cytosol Biological process RNA processing nuclear polyadenylation-dependent rRNA catabolic process nucleic acid phosphodiester bond hydrolysis CUT catabolic process nuclear-transcribed mRNA catabolic process nuclear mRNA surveillance cell metabolism maturation of 5.8S rRNA histone mRNA catabolic process dosage compensation by inactivation of X chromosome nucleobase-containing compound metabolic process rRNA processing RNA phosphodiester bond hydrolysis, exonucleolytic nuclear-transcribed mRNA catabolic process, nonsense-mediated decay negative regulation of telomere maintenance via telomerase regulation of telomerase RNA localization to Cajal body exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nuclear polyadenylation-dependent snoRNA catabolic process nuclear polyadenylation-dependent snRNA catabolic process nuclear polyadenylation-dependent tRNA catabolic process nuclear polyadenylation-dependent CUT catabolic process nuclear polyadenylation-dependent antisense transcript catabolic process polyadenylation-dependent snoRNA 3'-end processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5394 50912 Ensembl ENSG00000171824 ENSMUSG00000017264 UniProt Q01780 P56960 RefSeq (mRNA) NM_001001998 NM_002685 NM_016699 NM_001355489 NM_001355490 RefSeq (protein) NP_001001998 NP_002676 NP_057908 NP_001342418 NP_001342419 Location (UCSC) Chr 1: 11.07 – 11.1 Mb Chr 4: 148.64 – 148.67 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Exosome component 10, also known as EXOSC10, is a human gene, the protein product of which (sometimes called PM/Scl-100) is part of the exosome complex and is an autoantigen is patients with certain autoimmune diseases, most notably scleromyositis. ^[5] Mutations of the gene can cause microcephaly. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000171824 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000017264 – 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: EXOSC10 exosome component 10".
6. Ulmke PA, et al. "EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling". Brain. Oxford Academic. doi:10.1093/brain/awaf405.

Further reading

• Blüthner M, Bautz FA (1992). "Cloning and characterization of the cDNA coding for a polymyositis-scleroderma overlap syndrome-related nucleolar 100-kD protein". J. Exp. Med. 176 (4): 973–80. doi:10.1084/jem.176.4.973. PMC   2119404 . PMID   1383382.
• Ge Q, Frank MB, O'Brien C, Targoff IN (1992). "Cloning of a complementary DNA coding for the 100-kD antigenic protein of the PM-Scl autoantigen". J. Clin. Invest. 90 (2): 559–70. doi:10.1172/JCI115895. PMC   443135 . PMID   1644924.
• Allmang C, Petfalski E, Podtelejnikov A, et al. (1999). "The yeast exosome and human PM-Scl are related complexes of 3' --> 5' exonucleases". Genes Dev. 13 (16): 2148–58. doi:10.1101/gad.13.16.2148. PMC   316947 . PMID   10465791.
• Brouwer R, Allmang C, Raijmakers R, et al. (2001). "Three novel components of the human exosome". J. Biol. Chem. 276 (9): 6177–84. doi: 10.1074/jbc.M007603200 . hdl: 20.500.11820/a03680a4-cf3a-4827-805c-447483ff4b9f . PMID   11110791.
• Stover C, Endo Y, Takahashi M, et al. (2001). "The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3". Genes Immun. 2 (3): 119–27. doi:10.1038/sj.gene.6363745. PMID   11426320. S2CID   23496123.
• Chen CY, Gherzi R, Ong SE, et al. (2002). "AU binding proteins recruit the exosome to degrade ARE-containing mRNAs". Cell. 107 (4): 451–64. doi: 10.1016/S0092-8674(01)00578-5 . PMID   11719186. S2CID   14817671.
• Raijmakers R, Noordman YE, van Venrooij WJ, Pruijn GJ (2002). "Protein-protein interactions of hCsl4p with other human exosome subunits". J. Mol. Biol. 315 (4): 809–18. doi:10.1006/jmbi.2001.5265. hdl: 2066/261980 . PMID   11812149.
• Brouwer R, Vree Egberts WT, Hengstman GJ, et al. (2002). "Autoantibodies directed to novel components of the PM/Scl complex, the human exosome". Arthritis Res. 4 (2): 134–8. doi: 10.1186/ar389 . PMC   83843 . PMID   11879549.
• Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ (2002). "Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring". J. Mol. Biol. 323 (4): 653–63. doi:10.1016/S0022-2836(02)00947-6. hdl: 2066/186665 . PMID   12419256.
• Scherl A, Couté Y, Déon C, et al. (2003). "Functional proteomic analysis of human nucleolus". Mol. Biol. Cell. 13 (11): 4100–9. doi:10.1091/mbc.E02-05-0271. PMC   133617 . PMID   12429849.
• 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.
• Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ (2003). "The association of the human PM/Scl-75 autoantigen with the exosome is dependent on a newly identified N terminus". J. Biol. Chem. 278 (33): 30698–704. doi: 10.1074/jbc.M302488200 . hdl: 2066/186428 . PMID   12788944.
• Lejeune F, Li X, Maquat LE (2003). "Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities". Mol. Cell. 12 (3): 675–87. doi: 10.1016/S1097-2765(03)00349-6 . PMID   14527413.
• 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.
• Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol. 6 (2): 97–105. doi:10.1038/ncb1086. PMID   14743216. S2CID   11683986.
• Raijmakers R, Renz M, Wiemann C, et al. (2004). "PM-Scl-75 is the main autoantigen in patients with the polymyositis/scleroderma overlap syndrome". Arthritis Rheum. 50 (2): 565–9. doi:10.1002/art.20056. PMID   14872500.
• Lehner B, Sanderson CM (2004). "A protein interaction framework for human mRNA degradation". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC   442147 . PMID   15231747.
• 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.
• van Dijk EL, Schilders G, Pruijn GJ (2007). "Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways". RNA. 13 (7): 1027–35. doi:10.1261/rna.575107. PMC   1894934 . PMID   17545563.