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Aliases for EXOSC8 Gene

Aliases for EXOSC8 Gene

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

External Ids for EXOSC8 Gene

Previous GeneCards Identifiers for EXOSC8 Gene

  • GC13P035373
  • GC13P036472
  • GC13P037572
  • GC13P018386

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 Transport to the Golgi and subsequent modification and Unfolded Protein Response (UPR). 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

Regulatory Elements for EXOSC8 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EXOSC8 Gene

Chromosome:
13
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

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EXOSC8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EXOSC8 Gene

Domains & Families for EXOSC8 Gene

Gene Families for EXOSC8 Gene

Protein Domains for EXOSC8 Gene

Suggested Antigen Peptide Sequences for EXOSC8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96B26

UniProtKB/Swiss-Prot:

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

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
GO:0044822 poly(A) RNA binding IBA --
genes like me logo Genes that share ontologies with EXOSC8: view
genes like me logo Genes that share phenotypes with EXOSC8: view

Animal Model Products

miRNA for EXOSC8 Gene

miRTarBase miRNAs that target EXOSC8

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EXOSC8

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
mitochondrion 3
extracellular 2

Gene Ontology (GO) - Cellular Components for EXOSC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000176 nuclear exosome (RNase complex) IBA --
GO:0000177 cytoplasmic exosome (RNase complex) IBA --
GO:0000178 exosome (RNase complex) IDA 20531389
GO:0005634 nucleus IDA 17545563
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with EXOSC8: view

Pathways & Interactions for EXOSC8 Gene

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

Pathways by source 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:0000467 exonucleolytic trimming to generate mature 3-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0006364 rRNA processing --
GO:0008150 biological_process ND --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with EXOSC8: view

No data available for SIGNOR curated interactions for EXOSC8 Gene

Drugs & Compounds for EXOSC8 Gene

No Compound Related Data Available

Transcripts for EXOSC8 Gene

Unigene Clusters for EXOSC8 Gene

Exosome component 8:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EXOSC8

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for EXOSC8 Gene

This gene is overexpressed in Liver (27.6), Lung (15.9), and Breast (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with EXOSC8: view

Protein tissue co-expression partners for EXOSC8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EXOSC8 Gene

Orthologs for EXOSC8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXOSC8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EXOSC8 35
  • 93.96 (n)
  • 94.57 (a)
EXOSC8 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXOSC8 35
  • 94.2 (n)
  • 97.46 (a)
EXOSC8 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Exosc8 35
  • 87.56 (n)
  • 92.03 (a)
Exosc8 16
Exosc8 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EXOSC8 35
  • 99.4 (n)
  • 99.64 (a)
EXOSC8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Exosc8 35
  • 89.3 (n)
  • 93.28 (a)
oppossum
(Monodelphis domestica)
Mammalia EXOSC8 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXOSC8 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves EXOSC8 35
  • 78.74 (n)
  • 82.97 (a)
EXOSC8 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXOSC8 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia exosc8 35
  • 71.41 (n)
  • 75.91 (a)
Str.11097 35
African clawed frog
(Xenopus laevis)
Amphibia MGC52847 35
zebrafish
(Danio rerio)
Actinopterygii exosc8 35
  • 69.46 (n)
  • 70.8 (a)
exosc8 36
  • 70 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9706 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012402 35
  • 53.88 (n)
  • 48.12 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRP45 36
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G60080 35
  • 49.18 (n)
  • 37.74 (a)
rice
(Oryza sativa)
Liliopsida Os11g0311300 35
  • 46.21 (n)
  • 34.85 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC17D1.03c 35
  • 50.07 (n)
  • 41.04 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6456 36
  • 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

(3) 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
VAR_072558 Pontocerebellar hypoplasia 1C (PCH1C)
VAR_072559 Pontocerebellar hypoplasia 1C (PCH1C)

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

Variant ID Type Subtype PubMed ID
nsv522336 CNV Gain 19592680

Variation tolerance for EXOSC8 Gene

Residual Variation Intolerance Score: 37.85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EXOSC8 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOSC8 Gene

Disorders for EXOSC8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EXOSC8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
pontocerebellar hypoplasia, type 1c
  • pontocerebellar hypoplasia 1c
pontocerebellar hypoplasia type 1
  • pontocerebellar hypoplasia with anterior horn cell disease
pontocerebellar hypoplasia
  • pch
- elite association

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}.

Relevant External Links for EXOSC8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EXOSC8
genes like me logo Genes that share disorders with EXOSC8: view

No data available for Genatlas for EXOSC8 Gene

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 23 67
  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 67
  3. The exosome: a conserved eukaryotic RNA processing complex containing multiple 3'-->5' exoribonucleases. (PMID: 9390555) Mitchell P. … Tollervey D. (Cell 1997) 23 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67

Products for EXOSC8 Gene

Sources for EXOSC8 Gene

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