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Aliases for EXOSC10 Gene

Aliases for EXOSC10 Gene

  • Exosome Component 10 2 3 5
  • P100 Polymyositis-Scleroderma Overlap Syndrome-Associated Autoantigen 3 4
  • Polymyositis/Scleroderma Autoantigen 100 KDa 3 4
  • Polymyositis/Scleroderma Autoantigen 2 3 4
  • PM/Scl-100 3 4
  • PMSCL2 3 4
  • PMSCL 3 4
  • RRP6 3 4
  • Polymyositis/Scleroderma Autoantigen 2 (100kD) 2
  • Polymyositis/Scleroderma Autoantigen 2, 100kDa 2
  • Autoantigen PM/Scl 2 4
  • Autoantigen PM-SCL 3
  • EC 3.1.13.- 4
  • PM-Scl 3
  • Rrp6p 3
  • P3 3
  • P2 3
  • P4 3

External Ids for EXOSC10 Gene

Previous HGNC Symbols for EXOSC10 Gene

  • PMSCL2

Previous GeneCards Identifiers for EXOSC10 Gene

  • GC01M010837
  • GC01M011060
  • GC01M011049
  • GC01M010278

Summaries for EXOSC10 Gene

GeneCards Summary for EXOSC10 Gene

EXOSC10 (Exosome Component 10) is a Protein Coding gene. Diseases associated with EXOSC10 include Systemic Scleroderma and Collagen Disease. Among its related pathways are Gene Expression and rRNA processing in the nucleus and cytosol. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding.

UniProtKB/Swiss-Prot for EXOSC10 Gene

  • Putative catalytic component of the RNA exosome complex which has 3->5 exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding pervasive transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3 untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. EXOSC10 has 3-5 exonuclease activity (By similarity). EXOSC10 is required for nucleolar localization of C1D and probably mediates the association of SKIV2L2, C1D and MPP6 wth the RNA exosome involved in the maturation of 5.8S rRNA.

Gene Wiki entry for EXOSC10 Gene

Additional gene information for EXOSC10 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXOSC10 Gene

Genomics for EXOSC10 Gene

GeneHancer (GH) Regulatory Elements for EXOSC10 Gene

Promoters and enhancers for EXOSC10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I011098 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 564.7 +0.6 602 2.4 SMAD1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B ZNF766 EXOSC10 LOC105376736 CLCN6 ENSG00000226849
GH01I010662 Enhancer 2.5 VISTA UCNEbase FANTOM5 Ensembl ENCODE dbSUPER 24.5 +423.4 423411 28 PKNOX1 FOXA2 ZFP64 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 ZNF213 TARDBP ENSG00000226849 EXOSC10 MTOR ENSG00000271895 C1orf127 DFFA PGD RBP7 CASZ1
GH01I011478 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 27 -379.3 -379309 1 CLOCK ATF1 SIN3A ZNF48 ZNF766 GLIS2 ZNF213 E2F8 ZNF207 ZNF143 DISP3 TARDBP ENSG00000226849 EXOSC10 CLCN6 MTHFR LINC01647
GH01I011978 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.4 -882.8 -882822 8.6 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MFN2 ENSG00000226849 EXOSC10 MIIP TNFRSF1B PLOD1 CLCN6 TARDBP KIAA2013 RNU5E-4P
GH01I011943 Enhancer 1.1 ENCODE dbSUPER 45.3 -844.6 -844572 1.9 FEZF1 GLI4 ZNF2 GLIS2 ZNF213 ZNF416 KLF7 ZNF548 YY2 ZNF662 ENSG00000226849 EXOSC10 TARDBP MTHFR MFN2 VPS13D MTOR UBIAD1 ENSG00000271895 PLOD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EXOSC10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EXOSC10 gene promoter:

Genomic Locations for EXOSC10 Gene

Genomic Locations for EXOSC10 Gene
chr1:11,066,613-11,099,910
(GRCh38/hg38)
Size:
33,298 bases
Orientation:
Minus strand
chr1:11,126,675-11,159,938
(GRCh37/hg19)

Genomic View for EXOSC10 Gene

Genes around EXOSC10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXOSC10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXOSC10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOSC10 Gene

Proteins for EXOSC10 Gene

  • Protein details for EXOSC10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01780-EXOSX_HUMAN
    Recommended name:
    Exosome component 10
    Protein Accession:
    Q01780
    Secondary Accessions:
    • B1AKQ0
    • B1AKQ1
    • Q15158

    Protein attributes for EXOSC10 Gene

    Size:
    885 amino acids
    Molecular mass:
    100831 Da
    Quaternary structure:
    • Component of the RNA exosome complex. The catalytically inactive RNA exosome core (Exo-9) complex is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. Interacts with C1D and MPHOSPH6. Interacts with ALYREF/THOC4.

    Three dimensional structures from OCA and Proteopedia for EXOSC10 Gene

    Alternative splice isoforms for EXOSC10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXOSC10 Gene

Post-translational modifications for EXOSC10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EXOSC10 Gene

Domains & Families for EXOSC10 Gene

Gene Families for EXOSC10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EXOSC10 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EXOSC10: view

No data available for UniProtKB/Swiss-Prot for EXOSC10 Gene

Function for EXOSC10 Gene

Molecular function for EXOSC10 Gene

UniProtKB/Swiss-Prot Function:
Putative catalytic component of the RNA exosome complex which has 3->5 exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding pervasive transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3 untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. EXOSC10 has 3-5 exonuclease activity (By similarity). EXOSC10 is required for nucleolar localization of C1D and probably mediates the association of SKIV2L2, C1D and MPP6 wth the RNA exosome involved in the maturation of 5.8S rRNA.

Enzyme Numbers (IUBMB) for EXOSC10 Gene

Phenotypes From GWAS Catalog for EXOSC10 Gene

Gene Ontology (GO) - Molecular Function for EXOSC10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000175 3-5-exoribonuclease activity IMP 26950371
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,HDA 22658674
GO:0003824 catalytic activity IEA --
genes like me logo Genes that share ontologies with EXOSC10: view
genes like me logo Genes that share phenotypes with EXOSC10: view

Animal Model Products

  • Taconic Biosciences Mouse Models for EXOSC10

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EXOSC10 Gene

Localization for EXOSC10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXOSC10 Gene

Cytoplasm. Nucleus, nucleolus. Nucleus. Note=Strongly enriched in the nucleolus and a small amount has been found in cytoplasm supporting the existence of a nucleolar RNA exosome complex form.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EXOSC10 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXOSC10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000176 nuclear exosome (RNase complex) IEA --
GO:0000178 exosome (RNase complex) IDA,IEA 20531389
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA,IEA 17545563
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with EXOSC10: view

Pathways & Interactions for EXOSC10 Gene

genes like me logo Genes that share pathways with EXOSC10: view

Pathways by source for EXOSC10 Gene

1 GeneGo (Thomson Reuters) pathway for EXOSC10 Gene

Gene Ontology (GO) - Biological Process for EXOSC10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA --
GO:0000460 maturation of 5.8S rRNA IMP 17412707
GO:0000956 nuclear-transcribed mRNA catabolic process IMP 17545563
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006364 rRNA processing TAS --
genes like me logo Genes that share ontologies with EXOSC10: view

No data available for SIGNOR curated interactions for EXOSC10 Gene

Drugs & Compounds for EXOSC10 Gene

No Compound Related Data Available

Transcripts for EXOSC10 Gene

Unigene Clusters for EXOSC10 Gene

Exosome component 10:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC10 Gene

No ASD Table

Relevant External Links for EXOSC10 Gene

GeneLoc Exon Structure for
EXOSC10
ECgene alternative splicing isoforms for
EXOSC10

Expression for EXOSC10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EXOSC10 Gene

Protein differential expression in normal tissues from HIPED for EXOSC10 Gene

This gene is overexpressed in Lung (47.8) and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EXOSC10 Gene



Protein tissue co-expression partners for EXOSC10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EXOSC10 Gene:

EXOSC10

SOURCE GeneReport for Unigene cluster for EXOSC10 Gene:

Hs.632368

Evidence on tissue expression from TISSUES for EXOSC10 Gene

  • Nervous system(4.8)
  • Skin(4.6)
  • Blood(4.5)
  • Kidney(3.3)
  • Lung(3.1)
  • Intestine(2.8)
  • Spleen(2.5)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with EXOSC10: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXOSC10 Gene

Orthologs for EXOSC10 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EXOSC10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXOSC10 33 34
  • 99.4 (n)
cow
(Bos Taurus)
Mammalia EXOSC10 33 34
  • 87.03 (n)
dog
(Canis familiaris)
Mammalia EXOSC10 33 34
  • 86.99 (n)
rat
(Rattus norvegicus)
Mammalia Exosc10 33
  • 83.45 (n)
mouse
(Mus musculus)
Mammalia Exosc10 33 16 34
  • 83.13 (n)
oppossum
(Monodelphis domestica)
Mammalia EXOSC10 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXOSC10 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves EXOSC10 33 34
  • 72.71 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 81 (a)
OneToMany
-- 34
  • 48 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia exosc10 33
  • 66.9 (n)
zebrafish
(Danio rerio)
Actinopterygii exosc10 33 34
  • 62.24 (n)
zgc55695 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12521 33
fruit fly
(Drosophila melanogaster)
Insecta Rrp6 34
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea crn-3 34
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRP6 34 36
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
Species where no ortholog for EXOSC10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EXOSC10 Gene

ENSEMBL:
Gene Tree for EXOSC10 (if available)
TreeFam:
Gene Tree for EXOSC10 (if available)

Paralogs for EXOSC10 Gene

No data available for Paralogs for EXOSC10 Gene

Variants for EXOSC10 Gene

Sequence variations from dbSNP and Humsavar for EXOSC10 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000002776 -- 11,098,949(-) T/A intron_variant
rs1000008241 -- 11,077,852(-) G/A intron_variant
rs1000016951 -- 11,084,312(-) T/C intron_variant
rs1000066567 -- 11,099,135(-) G/A intron_variant
rs1000122249 -- 11,071,034(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EXOSC10 Gene

Variant ID Type Subtype PubMed ID
nsv545407 CNV gain 21841781
nsv955233 CNV deletion 24416366

Variation tolerance for EXOSC10 Gene

Residual Variation Intolerance Score: 50.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.18; 61.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXOSC10 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXOSC10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOSC10 Gene

Disorders for EXOSC10 Gene

MalaCards: The human disease database

(4) MalaCards diseases for EXOSC10 Gene - From: DISEASES

Disorder Aliases PubMed IDs
systemic scleroderma
  • scleroderma, familial progressive
collagen disease
  • collagen disorder
facial hemiatrophy
  • parry-romberg syndrome
limited scleroderma
  • limited cutaneous systemic sclerosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EXOSC10

genes like me logo Genes that share disorders with EXOSC10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EXOSC10 Gene

Publications for EXOSC10 Gene

  1. Cloning and characterization of the cDNA coding for a polymyositis-scleroderma overlap syndrome-related nucleolar 100-kD protein. (PMID: 1383382) Blüthner M … Bautz FA (The Journal of experimental medicine 1992) 2 3 4 58
  2. Cloning of a complementary DNA coding for the 100-kD antigenic protein of the PM-Scl autoantigen. (PMID: 1644924) Ge Q … Targoff IN (The Journal of clinical investigation 1992) 2 3 4 58
  3. Addition of poly(A) and poly(A)-rich tails during RNA degradation in the cytoplasm of human cells. (PMID: 20368444) Slomovic S … Schuster G (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 58
  4. The human core exosome interacts with differentially localized processive RNases: hDIS3 and hDIS3L. (PMID: 20531386) Tomecki R … Jensen TH (The EMBO journal 2010) 3 4 58
  5. Dis3-like 1: a novel exoribonuclease associated with the human exosome. (PMID: 20531389) Staals RH … Pruijn GJ (The EMBO journal 2010) 3 4 58

Products for EXOSC10 Gene

Sources for EXOSC10 Gene

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