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Aliases for EXOSC5 Gene

Aliases for EXOSC5 Gene

  • Exosome Component 5 2 3 4 5
  • Chronic Myelogenous Leukemia Tumor Antigen 28 3 4
  • Ribosomal RNA-Processing Protein 46 3 4
  • Exosome Component Rrp46 2 3
  • RRP46 3 4
  • P12B 3 4
  • Exosome Complex Exonuclease RRP46 3
  • Exosome Complex Component RRP46 3
  • HRrp46p 3
  • RRP41B 3
  • Rrp46p 3
  • CML28 4

External Ids for EXOSC5 Gene

Previous GeneCards Identifiers for EXOSC5 Gene

  • GC19M046585
  • GC19M046586
  • GC19M041892
  • GC19M038324

Summaries for EXOSC5 Gene

GeneCards Summary for EXOSC5 Gene

EXOSC5 (Exosome Component 5) is a Protein Coding gene. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Gene Expression. Gene Ontology (GO) annotations related to this gene include RNA binding and exoribonuclease activity.

UniProtKB/Swiss-Prot for EXOSC5 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.

Gene Wiki entry for EXOSC5 Gene

Additional gene information for EXOSC5 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXOSC5 Gene

Genomics for EXOSC5 Gene

GeneHancer (GH) Regulatory Elements for EXOSC5 Gene

Promoters and enhancers for EXOSC5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I041394 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 569.6 +0.5 514 4.9 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 EXOSC5 BCKDHA TMEM91 ZNF526 HNRNPUL1 SNRPA CCDC97 ENSG00000269843 ENSG00000268366 SERTAD3
GH19I041424 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 31.1 -29.5 -29533 5 HDGF FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZNF766 GLIS2 B3GNT8 ENSG00000268475 TMEM91 EXOSC5 DMAC2 ZNF574 SPTBN4 BCKDHA TGFB1 MEGF8
GH19I041438 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 29.1 -42.2 -42196 1.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B DMAC2 GC19M041438 EXOSC5 CCDC97 SNRPA ZNF526 ENSG00000269843 HNRNPUL1 SERTAD3 BCKDHA
GH19I041430 Enhancer 1.5 VISTA ENCODE dbSUPER 31 -34.3 -34323 2.4 HDAC1 HDGF ATF1 ARNT ZSCAN4 ZNF133 GLI4 RAD21 YY1 TCF12 SNRPA CCDC97 ZNF526 EXOSC5 HNRNPUL1 ENSG00000269843 ITPKC ZNF574 B9D2 TGFB1
GH19I041406 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 18.8 -11.3 -11261 4.3 FOXA2 FOS ZNF362 CEBPB ZEB2 CEBPA MYC PRDM1 CTCF DRAP1 TMEM91 DMAC2 EXOSC5 TGFB1 B9D2 ERICH4 CCDC97 C19orf54 HNRNPUL1 ARHGEF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EXOSC5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EXOSC5 gene promoter:

Genomic Locations for EXOSC5 Gene

Genomic Locations for EXOSC5 Gene
chr19:41,386,370-41,397,479
(GRCh38/hg38)
Size:
11,110 bases
Orientation:
Minus strand
chr19:41,892,275-41,903,384
(GRCh37/hg19)

Genomic View for EXOSC5 Gene

Genes around EXOSC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXOSC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXOSC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOSC5 Gene

Proteins for EXOSC5 Gene

  • Protein details for EXOSC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQT4-EXOS5_HUMAN
    Recommended name:
    Exosome complex component RRP46
    Protein Accession:
    Q9NQT4
    Secondary Accessions:
    • Q32Q81
    • Q8NG16
    • Q96I89

    Protein attributes for EXOSC5 Gene

    Size:
    235 amino acids
    Molecular mass:
    25249 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 EXOSC1. Interacts with GTPBP1. Interacts with ZC3HAV1. Interacts with DDX17 only in the presence of ZC3HAV1 in an RNA-independent manner.
    SequenceCaution:
    • Sequence=AAM75154.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EXOSC5 Gene

neXtProt entry for EXOSC5 Gene

Post-translational modifications for EXOSC5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EXOSC5 Gene

No data available for DME Specific Peptides for EXOSC5 Gene

Domains & Families for EXOSC5 Gene

Gene Families for EXOSC5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EXOSC5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQT4

UniProtKB/Swiss-Prot:

EXOS5_HUMAN :
  • Belongs to the RNase PH family.
Family:
  • Belongs to the RNase PH family.
genes like me logo Genes that share domains with EXOSC5: view

Function for EXOSC5 Gene

Molecular function for EXOSC5 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.

Phenotypes From GWAS Catalog for EXOSC5 Gene

Gene Ontology (GO) - Molecular Function for EXOSC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000175 3-5-exoribonuclease activity NAS 11110791
GO:0003723 RNA binding IEA --
GO:0004532 NOT exoribonuclease activity IDA 17174896
GO:0005515 protein binding IPI 11812149
genes like me logo Genes that share ontologies with EXOSC5: view
genes like me logo Genes that share phenotypes with EXOSC5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for EXOSC5

miRNA for EXOSC5 Gene

miRTarBase miRNAs that target EXOSC5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EXOSC5 Gene

Localization for EXOSC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXOSC5 Gene

Nucleus, nucleolus. Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EXOSC5 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
plasma membrane 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXOSC5 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,IEA 20531389
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with EXOSC5: view

Pathways & Interactions for EXOSC5 Gene

genes like me logo Genes that share pathways with EXOSC5: view

Pathways by source for EXOSC5 Gene

Gene Ontology (GO) - Biological Process for EXOSC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing TAS --
GO:0006401 RNA catabolic process IEA --
GO:0016075 rRNA catabolic process IBA --
GO:0031125 rRNA 3-end processing IBA --
GO:0034427 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3-5 IBA --
genes like me logo Genes that share ontologies with EXOSC5: view

No data available for SIGNOR curated interactions for EXOSC5 Gene

Drugs & Compounds for EXOSC5 Gene

No Compound Related Data Available

Transcripts for EXOSC5 Gene

Unigene Clusters for EXOSC5 Gene

Exosome component 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for EXOSC5 Gene

GeneLoc Exon Structure for
EXOSC5
ECgene alternative splicing isoforms for
EXOSC5

Expression for EXOSC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EXOSC5 Gene

Protein differential expression in normal tissues from HIPED for EXOSC5 Gene

This gene is overexpressed in Lung (19.2) and Liver (16.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EXOSC5 Gene



Protein tissue co-expression partners for EXOSC5 Gene

NURSA nuclear receptor signaling pathways regulating expression of EXOSC5 Gene:

EXOSC5

SOURCE GeneReport for Unigene cluster for EXOSC5 Gene:

Hs.283741

mRNA Expression by UniProt/SwissProt for EXOSC5 Gene:

Q9NQT4-EXOS5_HUMAN
Tissue specificity: Highly expressed in a variety of hematopoietic and epithelial tumor cell lines, but not in normal hematopoietic tissues or other normal tissue, with the exception of testis.
genes like me logo Genes that share expression patterns with EXOSC5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXOSC5 Gene

Orthologs for EXOSC5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXOSC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXOSC5 33 34
  • 98.87 (n)
dog
(Canis familiaris)
Mammalia EXOSC5 33 34
  • 88.65 (n)
cow
(Bos Taurus)
Mammalia EXOSC5 33 34
  • 87.66 (n)
mouse
(Mus musculus)
Mammalia Exosc5 33 16 34
  • 84.68 (n)
rat
(Rattus norvegicus)
Mammalia Exosc5 33
  • 84.54 (n)
oppossum
(Monodelphis domestica)
Mammalia EXOSC5 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves EXOSC5 33 34
  • 72.73 (n)
lizard
(Anolis carolinensis)
Reptilia EXOSC5 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia exosc5 33
  • 66.35 (n)
Str.1521 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9395 33
zebrafish
(Danio rerio)
Actinopterygii exosc5 33 34
  • 60.71 (n)
Dr.17708 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002177 33
  • 49.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rrp46 33 34
  • 46.96 (n)
worm
(Caenorhabditis elegans)
Secernentea crn-5 33 34
  • 42.08 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR035C 33
  • 48.95 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRP46 34 36
  • 26 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G46210 33
  • 48.56 (n)
rice
(Oryza sativa)
Liliopsida Os03g0854200 33
  • 49.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6933 34
  • 37 (a)
OneToOne
Species where no ortholog for EXOSC5 was found in the sources mined by GeneCards:
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 EXOSC5 Gene

ENSEMBL:
Gene Tree for EXOSC5 (if available)
TreeFam:
Gene Tree for EXOSC5 (if available)

Paralogs for EXOSC5 Gene

No data available for Paralogs for EXOSC5 Gene

Variants for EXOSC5 Gene

Sequence variations from dbSNP and Humsavar for EXOSC5 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs140322984 likely-benign, uncertain-significance, not specified, Maple syrup urine disease 41,397,890(-) C/G/T upstream_transcript_variant
rs202084220 uncertain-significance, Maple syrup urine disease 41,397,803(-) G/C upstream_transcript_variant
rs34541442 conflicting-interpretations-of-pathogenicity, benign, not specified, Maple syrup urine disease 41,397,861(-) C/A upstream_transcript_variant
rs398123494 pathogenic, not provided, Maple syrup urine disease 41,397,841(-) T/ upstream_transcript_variant
rs45500792 conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Maple syrup urine disease 41,397,794(-) T/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EXOSC5 Gene

Variant ID Type Subtype PubMed ID
nsv828551 CNV gain 20364138

Variation tolerance for EXOSC5 Gene

Residual Variation Intolerance Score: 69.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXOSC5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXOSC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOSC5 Gene

Disorders for EXOSC5 Gene

Additional Disease Information for EXOSC5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for EXOSC5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EXOSC5 Gene

Publications for EXOSC5 Gene

  1. Protein-protein interactions of hCsl4p with other human exosome subunits. (PMID: 11812149) Raijmakers R … Pruijn GJ (Journal of molecular biology 2002) 2 3 4 22 58
  2. Three novel components of the human exosome. (PMID: 11110791) Brouwer R … Pruijn GJ (The Journal of biological chemistry 2001) 2 3 4 58
  3. The RNA exosome targets the AID cytidine deaminase to both strands of transcribed duplex DNA substrates. (PMID: 21255825) Basu U … Alt FW (Cell 2011) 3 4 58
  4. Dis3-like 1: a novel exoribonuclease associated with the human exosome. (PMID: 20531389) Staals RH … Pruijn GJ (The EMBO journal 2010) 3 4 58
  5. p72 DEAD box RNA helicase is required for optimal function of the zinc-finger antiviral protein. (PMID: 18334637) Chen G … Gao G (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 58

Products for EXOSC5 Gene

Sources for EXOSC5 Gene

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