Exosome component 10

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]

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
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