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Aliases for EXOSC8 Gene

Aliases for EXOSC8 Gene

  • Exosome Component 8 2 3 4
  • RRP43 3 4 6
  • OIP2 3 4 6
  • Ribosomal RNA-Processing Protein 43 3 4
  • CBP-Interacting Protein 3 2 3
  • Opa Interacting Protein 2 2 3
  • Opa-Interacting Protein 2 3 4
  • OIP-2 3 4
  • P9 3 4
  • Exosome Complex Exonuclease RRP43 3
  • Exosome Complex Component RRP43 3
  • BA421P11.3 3
  • Rrp43p 3
  • PCH1C 3
  • EAP2 3
  • CIP3 3

External Ids for EXOSC8 Gene

Summaries for EXOSC8 Gene

Entrez Gene Summary for EXOSC8 Gene

  • 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]

GeneCards Summary for EXOSC8 Gene

EXOSC8 (Exosome Component 8) is a Protein Coding gene. Diseases associated with EXOSC8 include pontocerebellar hypoplasia, type 1c and pontocerebellar hypoplasia type 1. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Unfolded Protein Response. GO annotations related to this gene include AU-rich element binding and exoribonuclease activity. An important paralog of this gene is EXOSC7.

UniProtKB/Swiss-Prot for EXOSC8 Gene

  • 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.

Gene Wiki entry for EXOSC8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXOSC8 Gene

Genomics for EXOSC8 Gene

Genomic Location for EXOSC8 Gene

Start:
36,998,816 bp from pter
End:
37,009,614 bp from pter
Size:
10,799 bases
Orientation:
Plus strand

Genomic View for EXOSC8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EXOSC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOSC8 Gene

Regulatory Elements for EXOSC8 Gene

Proteins for EXOSC8 Gene

  • Protein details for EXOSC8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96B26-EXOS8_HUMAN
    Recommended name:
    Exosome complex component RRP43
    Protein Accession:
    Q96B26
    Secondary Accessions:
    • O43480
    • Q5TBA5

    Protein attributes for EXOSC8 Gene

    Size:
    276 amino acids
    Molecular mass:
    30040 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=CAI14013.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAX08581.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EXOSC8 Gene

neXtProt entry for EXOSC8 Gene

Proteomics data for EXOSC8 Gene at MOPED

Post-translational modifications for EXOSC8 Gene

No Post-translational modifications

Other Protein References for EXOSC8 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for EXOSC8 Gene

Domains for EXOSC8 Gene

Protein Domains for EXOSC8 Gene

UniProtKB/Swiss-Prot:

EXOS8_HUMAN
Family:
  • Belongs to the RNase PH family.:
    • Q96B26
genes like me logo Genes that share domains with EXOSC8: view

No data available for Gene Families for EXOSC8 Gene

Function for EXOSC8 Gene

Molecular function for EXOSC8 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for EXOSC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004532 NOT exoribonuclease activity IDA 17174896
GO:0005515 protein binding IPI 12419256
GO:0017091 AU-rich element binding IDA 16912217
genes like me logo Genes that share ontologies with EXOSC8: view

Phenotypes for EXOSC8 Gene

GenomeRNAi human phenotypes for EXOSC8:
genes like me logo Genes that share phenotypes with EXOSC8: view

miRNA for EXOSC8 Gene

miRTarBase miRNAs that target EXOSC8

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for EXOSC8 Gene

Localization for EXOSC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXOSC8 Gene

Cytoplasm. Nucleus. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EXOSC8 Gene COMPARTMENTS Subcellular localization image for EXOSC8 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 3
endoplasmic reticulum 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for EXOSC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000178 exosome (RNase complex) IDA 20531389
GO:0005634 nucleus IDA 17545563
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA 17545563
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with EXOSC8: view

Pathways for EXOSC8 Gene

genes like me logo Genes that share pathways with EXOSC8: view

Pathways by source for EXOSC8 Gene

1 KEGG pathway for EXOSC8 Gene

Gene Ontology (GO) - Biological Process for EXOSC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000288 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay TAS --
GO:0006364 rRNA processing IEA --
GO:0008150 biological_process ND --
GO:0010467 gene expression TAS --
GO:0016070 RNA metabolic process --
genes like me logo Genes that share ontologies with EXOSC8: view

Transcripts for EXOSC8 Gene

Unigene Clusters for EXOSC8 Gene

Exosome component 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - - -
SP2:
SP3: - -
SP4:
SP5: - -
SP6: -

Relevant External Links for EXOSC8 Gene

GeneLoc Exon Structure for
EXOSC8
ECgene alternative splicing isoforms for
EXOSC8

Expression for EXOSC8 Gene

mRNA expression in normal human tissues for EXOSC8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EXOSC8 Gene

SOURCE GeneReport for Unigene cluster for EXOSC8 Gene Hs.294041

genes like me logo Genes that share expressions with EXOSC8: view

Orthologs for EXOSC8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXOSC8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXOSC8 36
  • 99.4 (n)
  • 99.64 (a)
EXOSC8 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EXOSC8 36
  • 93.96 (n)
  • 94.57 (a)
EXOSC8 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXOSC8 36
  • 94.2 (n)
  • 97.46 (a)
EXOSC8 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Exosc8 36
  • 87.56 (n)
  • 92.03 (a)
Exosc8 16
Exosc8 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EXOSC8 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXOSC8 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Exosc8 36
  • 89.3 (n)
  • 93.28 (a)
chicken
(Gallus gallus)
Aves EXOSC8 36
  • 78.74 (n)
  • 82.97 (a)
EXOSC8 37
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXOSC8 37
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52847 36
tropical clawed frog
(Silurana tropicalis)
Amphibia exosc8 36
  • 71.41 (n)
  • 75.91 (a)
Str.11097 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9706 36
zebrafish
(Danio rerio)
Actinopterygii exosc8 36
  • 69.46 (n)
  • 70.8 (a)
exosc8 37
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012402 36
  • 53.88 (n)
  • 48.12 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRP45 37
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G60080 36
  • 49.18 (n)
  • 37.74 (a)
rice
(Oryza sativa)
Liliopsida Os11g0311300 36
  • 46.21 (n)
  • 34.85 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC17D1.03c 36
  • 50.07 (n)
  • 41.04 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6456 37
  • 49 (a)
OneToOne
Species with no ortholog for EXOSC8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EXOSC8 Gene

ENSEMBL:
Gene Tree for EXOSC8 (if available)
TreeFam:
Gene Tree for EXOSC8 (if available)

Paralogs for EXOSC8 Gene

Paralogs for EXOSC8 Gene

Selected SIMAP similar genes for EXOSC8 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for EXOSC8 Gene

genes like me logo Genes that share paralogs with EXOSC8: view

Variants for EXOSC8 Gene

Sequence variations from dbSNP and Humsavar for EXOSC8 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs1127446 -- 37,006,002(-) ATGAA(C/T)TGGCT synonymous-codon, reference, nc-transcript-variant
rs3819029 -- 37,002,461(+) TAATC(C/T)ATTTT intron-variant
rs7329124 -- 37,008,431(+) CTTCA(A/G)TATTT intron-variant
rs7329314 -- 37,001,629(+) agaca(C/T)gatat intron-variant
rs7982674 -- 37,003,953(+) tgcaa(C/G)ttccg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EXOSC8 Gene

Variant ID Type Subtype PubMed ID
nsv522336 CNV Gain 19592680

Relevant External Links for EXOSC8 Gene

HapMap Linkage Disequilibrium report
EXOSC8
Human Gene Mutation Database (HGMD)
EXOSC8

Disorders for EXOSC8 Gene

UniProtKB/Swiss-Prot

EXOS8_HUMAN
  • Pontocerebellar hypoplasia 1C (PCH1C) [MIM:616081]: A severe autosomal recessive neurodegenerative disease characterized by cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system, and spinal motor neuron disease. Affected individuals manifest failure to thrive, severe muscle weakness, spasticity and psychomotor retardation. Vision and hearing are impaired. {ECO:0000269 PubMed:24989451}. Note=The disease is caused by mutations affecting the gene represented in this entry. EXOSC8 dysfunction causes myelin disruption through an imbalanced supply of myelin proteins due to dysregulation of their ARE-containing mRNAs (PubMed:24989451). {ECO:0000269 PubMed:24989451}.

(1) University of Copenhagen DISEASES for EXOSC8 Gene

genes like me logo Genes that share disorders with EXOSC8: view

Publications for EXOSC8 Gene

  1. A protein subunit of human RNase P, Rpp14, and its interacting partner, OIP2, have 3'-->5' exoribonuclease activity. (PMID: 11929972) Jiang T. … Altman S. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 23
  2. Using the yeast two-hybrid system to identify human epithelial cell proteins that bind gonococcal Opa proteins: intracellular gonococci bind pyruvate kinase via their Opa proteins and require host pyruvate for growth. (PMID: 9466265) Williams J.M. … Rest R.F. (Mol. Microbiol. 1998) 2 3 4
  3. Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. (PMID: 12419256) Raijmakers R. … Pruijn G.J.M. (J. Mol. Biol. 2002) 3 4
  4. A protein interaction framework for human mRNA degradation. (PMID: 15231747) Lehner B. … Sanderson C.M. (Genome Res. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for EXOSC8 Gene

Sources for EXOSC8 Gene

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