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Aliases for EXOSC9 Gene

Aliases for EXOSC9 Gene

  • Exosome Component 9 2 3 4
  • PMSCL1 3 4 6
  • P75 Polymyositis-Scleroderma Overlap Syndrome-Associated Autoantigen 3 4
  • Polymyositis/Scleroderma Autoantigen 1, 75kDa 2 3
  • Autoantigen PM/Scl 1 3 4
  • PM/Scl-75 3 4
  • P75 Polymyositis-Scleroderma Overlap Syndrome Associated Autoantigen 3
  • Polymyositis/Scleroderma Autoantigen 1 (75kD) 2
  • Polymyositis/Scleroderma Autoantigen 75 KDa 4
  • Polymyositis/Scleroderma Autoantigen 1 4
  • Exosome Complex Exonuclease RRP45 3
  • Exosome Complex Component RRP45 3
  • PMSCL Autoantigen, 75kD 3
  • EC 3.1.13 64
  • Rrp45p 3
  • RRP45 3
  • P5 3
  • P6 3

External Ids for EXOSC9 Gene

Previous Symbols for EXOSC9 Gene

  • PMSCL1

Summaries for EXOSC9 Gene

Entrez Gene Summary for EXOSC9 Gene

  • This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

GeneCards Summary for EXOSC9 Gene

EXOSC9 (Exosome Component 9) is a Protein Coding gene. Diseases associated with EXOSC9 include scleroderma and polymyositis. 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 AU-rich element binding. An important paralog of this gene is EXOSC7.

UniProtKB/Swiss-Prot for EXOSC9 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. EXOSC9 binds to ARE-containing RNAs.

Gene Wiki entry for EXOSC9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXOSC9 Gene

Genomics for EXOSC9 Gene

Genomic Location for EXOSC9 Gene

Start:
121,801,290 bp from pter
End:
121,817,021 bp from pter
Size:
15,732 bases
Orientation:
Plus strand

Genomic View for EXOSC9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EXOSC9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOSC9 Gene

Regulatory Elements for EXOSC9 Gene

Proteins for EXOSC9 Gene

  • Protein details for EXOSC9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06265-EXOS9_HUMAN
    Recommended name:
    Exosome complex component RRP45
    Protein Accession:
    Q06265
    Secondary Accessions:
    • Q12883
    • Q4W5P5
    • Q86Y41
    • Q86Y48

    Protein attributes for EXOSC9 Gene

    Size:
    439 amino acids
    Molecular mass:
    48949 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 (PubMed:11719186, PubMed:12788944, PubMed:20531389). Interacts (via C-terminus region) with SETX (via N-terminus domain); the interaction enhances SETX sumoylation (PubMed:24105744).

    Three dimensional structures from OCA and Proteopedia for EXOSC9 Gene

    Alternative splice isoforms for EXOSC9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXOSC9 Gene

Proteomics data for EXOSC9 Gene at MOPED

Selected DME Specific Peptides for EXOSC9 Gene

Post-translational modifications for EXOSC9 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys52, Lys67, Lys101, Lys244, and Lys281

Other Protein References for EXOSC9 Gene

Domains for EXOSC9 Gene

Protein Domains for EXOSC9 Gene

UniProtKB/Swiss-Prot:

EXOS9_HUMAN
Family:
  • Belongs to the RNase PH family.:
    • Q06265
genes like me logo Genes that share domains with EXOSC9: view

No data available for Gene Families for EXOSC9 Gene

Function for EXOSC9 Gene

Molecular function for EXOSC9 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. EXOSC9 binds to ARE-containing RNAs.

Enzyme Numbers (IUBMB) for EXOSC9 Gene

Gene Ontology (GO) - Molecular Function for EXOSC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000175 3-5-exoribonuclease activity NAS 11879549
GO:0003723 RNA binding NAS 11879549
GO:0004532 NOT exoribonuclease activity IDA 17174896
GO:0005515 protein binding IPI 12788944
GO:0017091 AU-rich element binding IDA 11782436
genes like me logo Genes that share ontologies with EXOSC9: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for EXOSC9 Gene

Localization for EXOSC9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXOSC9 Gene

Cytoplasm. Nucleus. Nucleus, nucleolus. Nucleus, nucleoplasm. Note=Colocalizes with SETX in nuclear foci upon induction of transcription-related DNA damage at the S phase (PubMed:24105744). {ECO:0000269 PubMed:24105744}.
Isoform 1: Nucleus, nucleolus.
Isoform 2: Nucleus, nucleolus.
Isoform 3: Nucleus. Note=Excluded from the nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EXOSC9 Gene COMPARTMENTS Subcellular localization image for EXOSC9 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for EXOSC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000176 nuclear exosome (RNase complex) NAS 11879549
GO:0000178 exosome (RNase complex) IDA 20531389
GO:0000228 nuclear chromosome IDA 24105744
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA 24105744
genes like me logo Genes that share ontologies with EXOSC9: view

Pathways for EXOSC9 Gene

genes like me logo Genes that share pathways with EXOSC9: view

Pathways by source for EXOSC9 Gene

1 KEGG pathway for EXOSC9 Gene

Gene Ontology (GO) - Biological Process for EXOSC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000288 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay TAS --
GO:0000956 nuclear-transcribed mRNA catabolic process IMP 17545563
GO:0006364 rRNA processing NAS 11879549
GO:0006955 immune response NAS 11879549
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with EXOSC9: view

Transcripts for EXOSC9 Gene

Unigene Clusters for EXOSC9 Gene

Exosome component 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC9 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b ^ 14
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - - - - -
SP7: - - - -
SP8:

Relevant External Links for EXOSC9 Gene

GeneLoc Exon Structure for
EXOSC9
ECgene alternative splicing isoforms for
EXOSC9

Expression for EXOSC9 Gene

mRNA expression in normal human tissues for EXOSC9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EXOSC9 Gene

SOURCE GeneReport for Unigene cluster for EXOSC9 Gene Hs.91728

genes like me logo Genes that share expressions with EXOSC9: view

Orthologs for EXOSC9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXOSC9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXOSC9 36
  • 99.63 (n)
  • 99.34 (a)
cow
(Bos Taurus)
Mammalia EXOSC9 36
  • 92.26 (n)
  • 93.62 (a)
EXOSC9 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXOSC9 36
  • 91.8 (n)
  • 94.99 (a)
EXOSC9 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Exosc9 36
  • 88.07 (n)
  • 92.43 (a)
Exosc9 16
Exosc9 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EXOSC9 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXOSC9 37
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Exosc9 36
  • 88.69 (n)
  • 92.89 (a)
chicken
(Gallus gallus)
Aves EXOSC9 36
  • 75.43 (n)
  • 80.57 (a)
EXOSC9 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXOSC9 37
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16470 36
tropical clawed frog
(Silurana tropicalis)
Amphibia exosc9 36
  • 71.7 (n)
  • 76.73 (a)
Str.10876 36
zebrafish
(Danio rerio)
Actinopterygii Dr.18150 36
exosc9 36
  • 69.16 (n)
  • 73.71 (a)
exosc9 37
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002348 36
  • 49.28 (n)
  • 43.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rrp45 37
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea exos-9 36
  • 48.51 (n)
  • 36.3 (a)
exos-9 37
  • 30 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL124W 36
  • 47.11 (n)
  • 36.81 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRP45 36
  • 48.86 (n)
  • 36.46 (a)
RRP45 37
  • 33 (a)
OneToMany
RRP45 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11099g 36
  • 48.38 (n)
  • 37.18 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons CER7 36
  • 51.19 (n)
  • 44.53 (a)
rice
(Oryza sativa)
Liliopsida Os02g0550700 36
  • 52.89 (n)
  • 44.88 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00334 36
  • 49.7 (n)
  • 44.09 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC757.08 36
  • 52.04 (n)
  • 44.6 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 36 (a)
OneToOne
Species with no ortholog for EXOSC9:
  • 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 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 EXOSC9 Gene

ENSEMBL:
Gene Tree for EXOSC9 (if available)
TreeFam:
Gene Tree for EXOSC9 (if available)

Paralogs for EXOSC9 Gene

Paralogs for EXOSC9 Gene

Selected SIMAP similar genes for EXOSC9 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with EXOSC9: view

Variants for EXOSC9 Gene

Sequence variations from dbSNP and Humsavar for EXOSC9 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs1803183 - 121,813,987(+) AAGCT(A/G)TCATT reference, missense, nc-transcript-variant
rs2661552 -- 121,814,481(-) GGAAT(A/C)AGATC intron-variant
rs3811742 -- 121,801,538(+) CGGGT(C/G)TCAAG intron-variant
rs3811743 -- 121,813,223(+) AAACC(C/T)CCACA intron-variant
rs3828485 -- 121,801,213(+) CCAAA(A/G)CCGCA upstream-variant-2KB

Relevant External Links for EXOSC9 Gene

HapMap Linkage Disequilibrium report
EXOSC9

No data available for Structural Variations from Database of Genomic Variants (DGV) for EXOSC9 Gene

Disorders for EXOSC9 Gene

(2) MalaCards Diseases for EXOSC9 Gene

Search for EXOSC9 Gene in MalaCards »
genes like me logo Genes that share disorders with EXOSC9: view

No data available for UniProtKB/Swiss-Prot for EXOSC9 Gene

Publications for EXOSC9 Gene

  1. Molecular characterization of an autoantigen of PM-Scl in the polymyositis/scleroderma overlap syndrome: a unique and complete human cDNA encoding an apparent 75-kD acidic protein of the nucleolar complex. (PMID: 2007859) Alderuccio F. … Tan E.M. (J. Exp. Med. 1991) 3 4
  2. The yeast exosome and human PM-Scl are related complexes of 3'-->5' exonucleases. (PMID: 10465791) Allmang C. … Mitchell P. (Genes Dev. 1999) 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 association of the human PM/Scl-75 autoantigen with the exosome is dependent on a newly identified N terminus. (PMID: 12788944) Raijmakers R. … Pruijn G.J. (J. Biol. Chem. 2003) 3 4

Products for EXOSC9 Gene

Sources for EXOSC9 Gene

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