Aliases for EXOSC10 Gene

Aliases for EXOSC10 Gene

  • Exosome Component 10 2 3 4 5
  • PM/Scl-100 2 3 4
  • RRP6 2 3 4
  • P100 Polymyositis-Scleroderma Overlap Syndrome-Associated Autoantigen 3 4
  • Polymyositis/Scleroderma Autoantigen 100 KDa 3 4
  • Polymyositis/Scleroderma Autoantigen 2 3 4
  • PM-Scl 2 3
  • PMSCL2 3 4
  • PMSCL 3 4
  • Rrp6p 2 3
  • P2 2 3
  • P3 2 3
  • P4 2 3
  • 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
  • EXOSC10 5

External Ids for EXOSC10 Gene

Previous HGNC Symbols for EXOSC10 Gene

  • PMSCL2

Previous GeneCards Identifiers for EXOSC10 Gene

  • GC01M010837
  • GC01M011060
  • GC01M011049
  • GC01M011126
  • GC01M010278

Summaries for EXOSC10 Gene

GeneCards Summary for EXOSC10 Gene

EXOSC10 (Exosome Component 10) is a Protein Coding gene. Diseases associated with EXOSC10 include Diffuse Scleroderma and Systemic Scleroderma. Among its related pathways are rRNA processing in the nucleus and cytosol and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is EXD1.

UniProtKB/Swiss-Prot Summary 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 MTREX, 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 , Rfam classification and piRNA Summary for EXOSC10 Gene

Genomics for EXOSC10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EXOSC10 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXOSC10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EXOSC10

Top Transcription factor binding sites by QIAGEN in the EXOSC10 gene promoter:
  • AML1a
  • E47
  • Evi-1
  • Hand1
  • HNF-1
  • HNF-1A
  • HTF
  • LCR-F1
  • POU3F2
  • RFX1

Genomic Locations for EXOSC10 Gene

Genomic Locations for EXOSC10 Gene
chr1:11,066,613-11,099,869
(GRCh38/hg38)
Size:
33,257 bases
Orientation:
Minus strand
chr1:11,126,675-11,159,938
(GRCh37/hg19)
Size:
33,264 bases
Orientation:
Minus strand

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 (PubMed:20531389, PubMed:26166824, PubMed:29906447). 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 (PubMed:20531389). Interacts with C1D and MPHOSPH6 (PubMed:17412707). Interacts with ALYREF/THOC4 (PubMed:17234882). Interacts with MTREX; the interaction mediates the association of MTREX with nuclear RNA exosomes (PubMed:26166824). Interacts with DHX36; this interaction occurs in a RNase-insensitive manner (PubMed:14731398).

    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

Other Protein References for EXOSC10 Gene

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

Protein Domains for EXOSC10 Gene

InterPro:
Blocks:
  • 3'-5' exonuclease
  • PMC2NT
ProtoNet:

Suggested Antigen Peptide Sequences for EXOSC10 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60634, highly similar to Exosome component 10 (B4DKG8_HUMAN)
  • Polymyositis/scleroderma autoantigen 2 (EXOSX_HUMAN)
  • EXOSC10 protein (Q96G78_HUMAN)
genes like me logo Genes that share domains with EXOSC10: view

No data available for Graphical View of Domain Structure and 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 MTREX, 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:0003727 single-stranded RNA binding IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOSC10

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 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
  • Nucleoplasm (3)
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,IDA 26166824
GO:0000178 exosome (RNase complex) IEA,IDA 20531389
GO:0005634 nucleus IEA,IDA 17545563
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus TAS,IDA 20531386
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
  • ATP/ITP metabolism

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:0000467 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0000956 nuclear-transcribed mRNA catabolic process IMP 17545563
GO:0006139 nucleobase-containing compound metabolic process IEA --
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

mRNA/cDNA for EXOSC10 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOSC10

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

No ASD Table

Relevant External Links for EXOSC10 Gene

GeneLoc Exon Structure for
EXOSC10

Expression for EXOSC10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for EXOSC10 Gene



Protein tissue co-expression partners for EXOSC10 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EXOSC10

SOURCE GeneReport for Unigene cluster for EXOSC10 Gene:

Hs.632368

Evidence on tissue expression from TISSUES for EXOSC10 Gene

  • Nervous system(4.9)
  • Skin(4.7)
  • Blood(4.6)
  • Kidney(3.7)
  • Intestine(3.3)
  • Lung(3.2)
  • Spleen(3)
  • Muscle(2.7)
  • Liver(2.5)
  • Heart(2.5)
  • Thyroid gland(2.4)
  • Bone marrow(2.3)
  • Lymph node(2.1)
  • Eye(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 30 31
  • 99.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EXOSC10 30 31
  • 87.03 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EXOSC10 30 31
  • 86.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Exosc10 30
  • 83.45 (n)
Mouse
(Mus musculus)
Mammalia Exosc10 30 17 31
  • 83.13 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EXOSC10 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EXOSC10 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EXOSC10 30 31
  • 72.71 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 81 (a)
OneToMany
-- 31
  • 48 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia exosc10 30
  • 66.9 (n)
Zebrafish
(Danio rerio)
Actinopterygii exosc10 30 31
  • 62.24 (n)
OneToOne
zgc55695 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12521 30
Fruit Fly
(Drosophila melanogaster)
Insecta Rrp6 31
  • 32 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea crn-3 31
  • 29 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRP6 31 33 33
  • 30 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Species where no ortholog for EXOSC10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EXOSC10: view image

Paralogs for EXOSC10 Gene

Paralogs for EXOSC10 Gene

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

Variants for EXOSC10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EXOSC10 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
786450 Benign: not provided 11,087,508(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for EXOSC10 Gene

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

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

Disorder Aliases PubMed IDs
diffuse scleroderma
  • diffuse systemic sclerosis
systemic scleroderma
  • scleroderma, familial progressive
childhood type dermatomyositis
  • childhood dermatomyositis
dyskinesia of esophagus
  • dyskinesia of oesophagus
basal ganglia cerebrovascular disease
- elite association - COSMIC cancer census association via MalaCards
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 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
  2. 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
  3. NVL2, a nucleolar AAA-ATPase, is associated with the nuclear exosome and is involved in pre-rRNA processing. (PMID: 26166824) Yoshikatsu Y … Nagahama M (Biochemical and biophysical research communications 2015) 3 4
  4. Dis3-like 1: a novel exoribonuclease associated with the human exosome. (PMID: 20531389) Staals RH … Pruijn GJ (The EMBO journal 2010) 3 4
  5. 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

Products for EXOSC10 Gene

Sources for EXOSC10 Gene