Human Gene EXOSC8 (uc001uwa.3)
  Description: Homo sapiens exosome component 8 (EXOSC8), mRNA.
RefSeq Summary (NM_181503): This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009].
Transcript (Including UTRs)
   Position: hg19 chr13:37,574,678-37,583,751 Size: 9,074 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr13:37,574,943-37,583,436 Size: 8,494 Coding Exon Count: 11 

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 (chr13:37,574,678-37,583,751)mRNA (may differ from genome)Protein (276 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EXOS8_HUMAN
DESCRIPTION: RecName: Full=Exosome complex component RRP43; AltName: Full=Exosome component 8; AltName: Full=Opa-interacting protein 2; Short=OIP-2; AltName: Full=Ribosomal RNA-processing protein 43; AltName: Full=p9;
FUNCTION: Non-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. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC8 binds to ARE-containing RNAs.
SUBUNIT: Component of the RNA exosome complex. Specifically part of the catalytically inactive RNA exosome core (Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. Exo-9 is formed by a hexameric ring of RNase PH domain-containing subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure. Binds outer membrane protein opap from Neisseria gonorrhoeae.
INTERACTION: Q9NQT5:EXOSC3; NbExp=3; IntAct=EBI-371922, EBI-371866; Q9NQT4:EXOSC5; NbExp=4; IntAct=EBI-371922, EBI-371876;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Nucleus, nucleolus (By similarity).
SIMILARITY: Belongs to the RNase PH family.
CAUTION: The six exosome core subunits containing a RNase PH- domain are not phosphorolytically active.
SEQUENCE CAUTION: Sequence=CAI14013.1; Type=Erroneous gene model prediction; Sequence=EAX08581.1; Type=Erroneous gene model prediction;

-  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: EXOSC8
Diseases sorted by gene-association score: pontocerebellar hypoplasia, type 1c* (1300), pontocerebellar hypoplasia type 1* (175), pontocerebellar hypoplasia (10)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 22.60 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 407.70 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 -106.00265-0.400 Picture PostScript Text
3' UTR -49.23315-0.156 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
IPR001247 - ExoRNase_PH_dom1
IPR015847 - ExoRNase_PH_dom2
IPR020568 - Ribosomal_S5_D2-typ_fold

Pfam Domains:
PF01138 - 3' exoribonuclease family, domain 1
PF03725 - 3' exoribonuclease family, domain 2

SCOP Domains:
55666 - Ribonuclease PH domain 2-like
54211 - Ribosomal protein S5 domain 2-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2NN6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q96B26
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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 orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0017091 AU-rich element binding
GO:0042802 identical protein binding
GO:0004532 exoribonuclease activity

Biological Process:
GO:0000467 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
GO:0006364 rRNA processing
GO:0006396 RNA processing
GO:0006401 RNA catabolic process
GO:0008150 biological_process
GO:0034427 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'
GO:0034473 U1 snRNA 3'-end processing
GO:0034475 U4 snRNA 3'-end processing
GO:0034476 U5 snRNA 3'-end processing
GO:0043488 regulation of mRNA stability
GO:0043928 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay
GO:0071028 nuclear mRNA surveillance
GO:0071035 nuclear polyadenylation-dependent rRNA catabolic process
GO:0071038 nuclear polyadenylation-dependent tRNA catabolic process
GO:0071042 nuclear polyadenylation-dependent mRNA catabolic process

Cellular Component:
GO:0000176 nuclear exosome (RNase complex)
GO:0000177 cytoplasmic exosome (RNase complex)
GO:0000178 exosome (RNase complex)
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  KJ898406 - Synthetic construct Homo sapiens clone ccsbBroadEn_07800 EXOSC8 gene, encodes complete protein.
AK096810 - Homo sapiens cDNA FLJ39491 fis, clone PROST2015924, weakly similar to Homo sapiens Opa-interacting protein OIP2 mRNA.
BC020773 - Homo sapiens exosome component 8, mRNA (cDNA clone MGC:22685 IMAGE:4808747), complete cds.
AL050353 - Homo sapiens mRNA; cDNA DKFZp564C0482 (from clone DKFZp564C0482).
AF279901 - Homo sapiens PNAS-147 mRNA, partial sequence.
AB463623 - Synthetic construct DNA, clone: pF1KB6391, Homo sapiens EXOSC8 gene for exosome component 8, without stop codon, in Flexi system.
DQ896414 - Synthetic construct Homo sapiens clone IMAGE:100010874; FLH194102.01L; RZPDo839F0669D exosome component 8 (EXOSC8) gene, encodes complete protein.
DQ893134 - Synthetic construct clone IMAGE:100005764; FLH194106.01X; RZPDo839F0679D exosome component 8 (EXOSC8) gene, encodes complete protein.
AF025438 - Homo sapiens Opa-interacting protein OIP2 mRNA, partial cds.
AK126602 - Homo sapiens cDNA FLJ44639 fis, clone BRACE2027382, highly similar to Homo sapiens Opa-interacting protein OIP2.
JD502939 - Sequence 483963 from Patent EP1572962.

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

Reactome (by CSHL, EBI, and GO)

Protein Q96B26 (Reactome details) participates in the following event(s):

R-HSA-450422 KSRP recruits RNA degradation activities
R-HSA-450431 ZFP36 (TTP) recruits RNA degradation activities
R-HSA-450488 BRF1 Complex recruits RNA degradation activities
R-HSA-430028 Exosome Complex hydrolyzes mRNA by 3' to 5' exoribonuclease digestion
R-HSA-450604 KSRP (KHSRP) binds and destabilizes mRNA
R-HSA-450513 Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
R-HSA-450385 Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
R-HSA-450531 Regulation of mRNA stability by proteins that bind AU-rich elements
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-429958 mRNA decay by 3' to 5' exoribonuclease
R-HSA-8953854 Metabolism of RNA
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-429914 Deadenylation-dependent mRNA decay
R-HSA-72312 rRNA processing

-  Other Names for This Gene
  Alternate Gene Symbols: EXOS8_HUMAN, NM_181503, NP_852480, O43480, OIP2, Q5TBA5, Q96B26, RRP43
UCSC ID: uc001uwa.3
RefSeq Accession: NM_181503
Protein: Q96B26 (aka EXOS8_HUMAN or RR43_HUMAN)
CCDS: CCDS31958.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_181503.2
exon count: 11CDS single in 3' UTR: no RNA size: 1427
ORF size: 831CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1788.00frame shift in genome: no % Coverage: 98.88
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.