Human Gene EXOSC10 (uc001asa.3)
  Description: Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:11,126,676-11,159,938 Size: 33,263 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chr1:11,126,775-11,159,888 Size: 33,114 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:11,126,676-11,159,938)mRNA (may differ from genome)Protein (885 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EXOSX_HUMAN
DESCRIPTION: RecName: Full=Exosome component 10; EC=3.1.13.-; AltName: Full=Autoantigen PM/Scl 2; AltName: Full=P100 polymyositis-scleroderma overlap syndrome-associated autoantigen; AltName: Full=Polymyositis/scleroderma autoantigen 100 kDa; Short=PM/Scl-100; AltName: Full=Polymyositis/scleroderma autoantigen 2;
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.
SUBUNIT: 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.
INTERACTION: Q13901:C1D; NbExp=5; IntAct=EBI-358236, EBI-3844053; Q99547:MPHOSPH6; NbExp=4; IntAct=EBI-358236, EBI-373187;
SUBCELLULAR LOCATION: 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.
SIMILARITY: Contains 1 3'-5' exonuclease domain.
SIMILARITY: Contains 1 HRDC domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EXOSC10
Diseases sorted by gene-association score: systemic scleroderma (4), collagen disease (2), facial hemiatrophy (2), limited scleroderma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 54.40 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 1154.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.8050-0.416 Picture PostScript Text
3' UTR -24.3099-0.245 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002562 - 3'-5'_exonuclease_dom
IPR012588 - Exosome-assoc_fac_Rrp6_N
IPR002121 - Helicase/RNaseD_C
IPR010997 - HRDC-like
IPR012337 - RNaseH-like_dom

Pfam Domains:
PF00570 - HRDC domain
PF01612 - 3'-5' exonuclease
PF08066 - PMC2NT (NUC016) domain

SCOP Domains:
53098 - Ribonuclease H-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CPR - NMR MuPIT 3SAF - X-ray MuPIT 3SAG - X-ray MuPIT 3SAH - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q01780
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
  Ensembl WormBase 
  Protein Sequence Protein Sequence 
  Alignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000175 3'-5'-exoribonuclease activity
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0003824 catalytic activity
GO:0004518 nuclease activity
GO:0004527 exonuclease activity
GO:0004532 exoribonuclease activity
GO:0005515 protein binding
GO:0008408 3'-5' exonuclease activity
GO:0016787 hydrolase activity
GO:0070034 telomerase RNA binding

Biological Process:
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0000460 maturation of 5.8S rRNA
GO:0000956 nuclear-transcribed mRNA catabolic process
GO:0006139 nucleobase-containing compound metabolic process
GO:0006364 rRNA processing
GO:0006396 RNA processing
GO:0009048 dosage compensation by inactivation of X chromosome
GO:0032211 negative regulation of telomere maintenance via telomerase
GO:0044237 cellular metabolic process
GO:0071028 nuclear mRNA surveillance
GO:0071034 CUT catabolic process
GO:0071035 nuclear polyadenylation-dependent rRNA catabolic process
GO:0071044 histone mRNA catabolic process
GO:0071048 nuclear retention of unspliced pre-mRNA at the site of transcription
GO:0090305 nucleic acid phosphodiester bond hydrolysis
GO:0090503 RNA phosphodiester bond hydrolysis, exonucleolytic
GO:1904872 regulation of telomerase RNA localization to Cajal body

Cellular Component:
GO:0000176 nuclear exosome (RNase complex)
GO:0000178 exosome (RNase complex)
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0035327 transcriptionally active chromatin


-  Descriptions from all associated GenBank mRNAs
  BC009908 - Homo sapiens exosome component 10, mRNA (cDNA clone IMAGE:2819348), partial cds.
BC039901 - Homo sapiens exosome component 10, mRNA (cDNA clone MGC:47752 IMAGE:5505500), complete cds.
L01457 - Homo sapiens (clone JH4B1) PM-scl autoantigen mRNA, complete cds.
BC028687 - Homo sapiens cDNA clone IMAGE:4829690, containing frame-shift errors.
AK123365 - Homo sapiens cDNA FLJ41371 fis, clone BRCAN2006411, highly similar to AUTOANTIGEN PM-SCL.
AB209236 - Homo sapiens mRNA for exosome component 10 isoform 2 variant protein.
AK296559 - Homo sapiens cDNA FLJ60634 complete cds, highly similar to Exosome component 10.
X66113 - H.sapiens mRNA for PM/Scl 100kD nucleolar protein.
BC073788 - Homo sapiens exosome component 10, mRNA (cDNA clone MGC:88806 IMAGE:5420763), complete cds.
KJ905274 - Synthetic construct Homo sapiens clone ccsbBroadEn_14771 EXOSC10 gene, encodes complete protein.
EU832630 - Synthetic construct Homo sapiens clone HAIB:100067659; DKFZo008D0131 exosome component 10 protein (EXOSC10) gene, encodes complete protein.
EU832705 - Synthetic construct Homo sapiens clone HAIB:100067734; DKFZo004D0132 exosome component 10 protein (EXOSC10) gene, encodes complete protein.
AB527852 - Synthetic construct DNA, clone: pF1KB8528, Homo sapiens EXOSC10 gene for exosome component 10, without stop codon, in Flexi system.
BC008460 - Homo sapiens exosome component 10, mRNA (cDNA clone IMAGE:4251305), with apparent retained intron.
AK308778 - Homo sapiens cDNA, FLJ98819.
AK294058 - Homo sapiens cDNA FLJ59618 complete cds, highly similar to Exosome component 10.
JD313791 - Sequence 294815 from Patent EP1572962.
JD060504 - Sequence 41528 from Patent EP1572962.
AK093955 - Homo sapiens cDNA FLJ36636 fis, clone TRACH2018882.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03018 - RNA degradation

Reactome (by CSHL, EBI, and GO)

Protein Q01780 (Reactome details) participates in the following event(s):

R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-72312 rRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: B1AKQ0, B1AKQ1, EXOSX_HUMAN, NM_001001998, NP_001001998, PMSCL, PMSCL2, Q01780, Q15158, RRP6
UCSC ID: uc001asa.3
RefSeq Accession: NM_001001998
Protein: Q01780 (aka EXOSX_HUMAN)
CCDS: CCDS126.1, CCDS30584.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001001998.1
exon count: 25CDS single in 3' UTR: no RNA size: 2834
ORF size: 2658CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5513.00frame shift in genome: no % Coverage: 99.05
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.