Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EXOSC3 Gene

Aliases for EXOSC3 Gene

  • Exosome Component 3 2 3 4
  • RRP40 3 4 6
  • Ribosomal RNA-Processing Protein 40 3 4
  • PCH1B 3 6
  • P10 3 4
  • Exosome Complex Exonuclease RRP40 3
  • Exosome Complex Component RRP40 3
  • Exosome Component Rrp40 2
  • CGI-102 Protein 2
  • BA3J10.7 3
  • CGI-102 3
  • HRrp-40 3
  • Rrp40p 3

External Ids for EXOSC3 Gene

Summaries for EXOSC3 Gene

Entrez Gene Summary for EXOSC3 Gene

  • This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]

GeneCards Summary for EXOSC3 Gene

EXOSC3 (Exosome Component 3) is a Protein Coding gene. Diseases associated with EXOSC3 include pontocerebellar hypoplasia, type 1b 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 RNA binding and 3-5-exoribonuclease activity.

UniProtKB/Swiss-Prot for EXOSC3 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. EXOSC3 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC9 and EXOSC5.

Gene Wiki entry for EXOSC3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXOSC3 Gene

Genomics for EXOSC3 Gene

Genomic Location for EXOSC3 Gene

Start:
37,766,978 bp from pter
End:
37,801,437 bp from pter
Size:
34,460 bases
Orientation:
Minus strand

Genomic View for EXOSC3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EXOSC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOSC3 Gene

Regulatory Elements for EXOSC3 Gene

Proteins for EXOSC3 Gene

  • Protein details for EXOSC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQT5-EXOS3_HUMAN
    Recommended name:
    Exosome complex component RRP40
    Protein Accession:
    Q9NQT5
    Secondary Accessions:
    • A8K0K6
    • Q5QP85
    • Q9Y3A8

    Protein attributes for EXOSC3 Gene

    Size:
    275 amino acids
    Molecular mass:
    29572 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. Interacts with GTPBP1. Interacts with ZC3HAV1. Interacts with DDX17 only in the presence of ZC3HAV1 in an RNA-independent manner.

    Three dimensional structures from OCA and Proteopedia for EXOSC3 Gene

    Alternative splice isoforms for EXOSC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXOSC3 Gene

Proteomics data for EXOSC3 Gene at MOPED

Post-translational modifications for EXOSC3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys113

Other Protein References for EXOSC3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for EXOSC3 Gene

Domains for EXOSC3 Gene

Protein Domains for EXOSC3 Gene

UniProtKB/Swiss-Prot:

EXOS3_HUMAN
Family:
  • Belongs to the RRP40 family.:
    • Q9NQT5
genes like me logo Genes that share domains with EXOSC3: view

No data available for Gene Families for EXOSC3 Gene

Function for EXOSC3 Gene

Molecular function for EXOSC3 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. EXOSC3 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC9 and EXOSC5.

Gene Ontology (GO) - Molecular Function for EXOSC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000175 3-5-exoribonuclease activity NAS 11110791
GO:0003723 RNA binding IBA --
GO:0004532 NOT exoribonuclease activity IDA 17174896
GO:0005515 protein binding IPI 11719186
genes like me logo Genes that share ontologies with EXOSC3: view

Phenotypes for EXOSC3 Gene

genes like me logo Genes that share phenotypes with EXOSC3: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for EXOSC3 Gene

Localization for EXOSC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXOSC3 Gene

Cytoplasm. Nucleus, nucleolus. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EXOSC3 Gene COMPARTMENTS Subcellular localization image for EXOSC3 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 2

Gene Ontology (GO) - Cellular Components for EXOSC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000176 nuclear exosome (RNase complex) IDA 11110791
GO:0000177 cytoplasmic exosome (RNase complex) IDA 11110791
GO:0000178 exosome (RNase complex) IDA 20531389
GO:0005634 nucleus IDA 17545563
GO:0005730 nucleolus IDA 20531389
genes like me logo Genes that share ontologies with EXOSC3: view

Pathways for EXOSC3 Gene

genes like me logo Genes that share pathways with EXOSC3: view

Pathways by source for EXOSC3 Gene

1 KEGG pathway for EXOSC3 Gene

Gene Ontology (GO) - Biological Process for EXOSC3 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 IDA 11110791
GO:0010467 gene expression TAS --
GO:0016070 RNA metabolic process --
genes like me logo Genes that share ontologies with EXOSC3: view

Transcripts for EXOSC3 Gene

Unigene Clusters for EXOSC3 Gene

Exosome component 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - -
SP2: - - -
SP3: -
SP4: - -

Relevant External Links for EXOSC3 Gene

GeneLoc Exon Structure for
EXOSC3
ECgene alternative splicing isoforms for
EXOSC3

Expression for EXOSC3 Gene

mRNA expression in normal human tissues for EXOSC3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EXOSC3 Gene

SOURCE GeneReport for Unigene cluster for EXOSC3 Gene Hs.602571

genes like me logo Genes that share expressions with EXOSC3: view

Orthologs for EXOSC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXOSC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXOSC3 36
  • 99.15 (n)
  • 98.91 (a)
EXOSC3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EXOSC3 36
  • 89.33 (n)
  • 94.18 (a)
EXOSC3 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXOSC3 36
  • 90.67 (n)
  • 92.73 (a)
EXOSC3 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Exosc3 36
  • 84.67 (n)
  • 87.59 (a)
Exosc3 16
Exosc3 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EXOSC3 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXOSC3 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Exosc3 36
  • 85.58 (n)
  • 86.54 (a)
chicken
(Gallus gallus)
Aves EXOSC3 36
  • 70.18 (n)
  • 73.05 (a)
EXOSC3 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXOSC3 37
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24761 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491278 36
  • 68.71 (n)
  • 69.39 (a)
Str.7004 36
zebrafish
(Danio rerio)
Actinopterygii exosc3 36
  • 66.23 (n)
  • 67.25 (a)
exosc3 37
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010247 36
  • 55.05 (n)
  • 45.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rrp40 36
  • 52.2 (n)
  • 48.68 (a)
Rrp40 37
  • 43 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea exos-3 36
  • 48.78 (n)
  • 40 (a)
exos-3 37
  • 38 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL196W 36
  • 47.14 (n)
  • 36.72 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRP40 36
  • 46.99 (n)
  • 36.61 (a)
RRP40 37
  • 32 (a)
OneToOne
RRP40 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E02091g 36
  • 48.13 (n)
  • 35.96 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G25355 36
  • 49.17 (n)
  • 40 (a)
rice
(Oryza sativa)
Liliopsida Os01g0661400 36
  • 50.83 (n)
  • 40 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00693 36
  • 46.47 (n)
  • 36.45 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC22A12.12c 36
  • 49.65 (n)
  • 35.94 (a)
Species with no ortholog for EXOSC3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for EXOSC3 Gene

ENSEMBL:
Gene Tree for EXOSC3 (if available)
TreeFam:
Gene Tree for EXOSC3 (if available)

Paralogs for EXOSC3 Gene

Selected SIMAP similar genes for EXOSC3 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for EXOSC3 Gene

genes like me logo Genes that share paralogs with EXOSC3: view

No data available for Paralogs for EXOSC3 Gene

Variants for EXOSC3 Gene

Sequence variations from dbSNP and Humsavar for EXOSC3 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs7158 Likely benign 37,782,114(+) ACAAA(C/T)TGGCC intron-variant, synonymous-codon, reference
rs1059059 -- 37,780,561(+) ACTTT(A/C)GGACT utr-variant-3-prime
rs2274322 -- 37,783,728(-) TTATT(A/T)TTTTT intron-variant
rs2281871 -- 37,780,315(-) TATAA(A/G)GCAGC utr-variant-3-prime
rs2296551 -- 37,781,894(-) GTAAC(A/G)TTTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EXOSC3 Gene

Variant ID Type Subtype PubMed ID
nsv831552 CNV Gain 17160897
nsv893062 CNV Gain 21882294
nsv469814 CNV Gain 16826518

Relevant External Links for EXOSC3 Gene

HapMap Linkage Disequilibrium report
EXOSC3
Human Gene Mutation Database (HGMD)
EXOSC3

Disorders for EXOSC3 Gene

(1) OMIM Diseases for EXOSC3 Gene (606489)

UniProtKB/Swiss-Prot

EXOS3_HUMAN
  • Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]: A severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. {ECO:0000269 PubMed:22544365}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EXOSC3

Genetic Association Database (GAD)
EXOSC3
Human Genome Epidemiology (HuGE) Navigator
EXOSC3
genes like me logo Genes that share disorders with EXOSC3: view

Publications for EXOSC3 Gene

  1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3 4
  2. Three novel components of the human exosome. (PMID: 11110791) Brouwer R. … Pruijn G.J.M. (J. Biol. Chem. 2001) 2 3 4
  3. AU binding proteins recruit the exosome to degrade ARE-containing mRNAs. (PMID: 11719186) Chen C.-Y. … Karin M. (Cell 2001) 3 4
  4. The mammalian exosome mediates the efficient degradation of mRNAs that contain AU-rich elements. (PMID: 11782436) Mukherjee D. … Wilusz J. (EMBO J. 2002) 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 EXOSC3 Gene

Sources for EXOSC3 Gene

Back to Top

Content