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Aliases for DIS3 Gene

Aliases for DIS3 Gene

  • DIS3 Exosome Endoribonuclease And 3'-5' Exoribonuclease 2
  • KIAA1008 2 3 4 6
  • DIS3 Exosome Endoribonuclease And 3-5 Exoribonuclease 2 3
  • Ribosomal RNA-Processing Protein 44 3 4
  • Exosome Component 11 2 3
  • RRP44 3 4
  • DIS3 Mitotic Control Homolog (S. Cerevisiae) 2
  • Mitotic Control Protein Dis3 Homolog 3
  • Exosome Complex Exonuclease RRP44 3
  • DIS3 Mitotic Control Homolog 3
  • Protein DIS3 Homolog 4
  • 2810028N01Rik 3
  • EC 3.1.13.- 4
  • EC 3.1.26.- 4
  • EC 3.1.13 64
  • EXOSC11 3
  • Dis3p 3

External Ids for DIS3 Gene

Previous Symbols for DIS3 Gene

  • KIAA1008

Summaries for DIS3 Gene

GeneCards Summary for DIS3 Gene

DIS3 (DIS3 Exosome Endoribonuclease And 3'-5' Exoribonuclease) is a Protein Coding gene. 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 endonuclease activity. An important paralog of this gene is DIS3L.

UniProtKB/Swiss-Prot for DIS3 Gene

  • Putative 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. DIS3 has both 3-5 exonuclease and endonuclease activities.

Gene Wiki entry for DIS3 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIS3 Gene

Genomics for DIS3 Gene

Genomic Location for DIS3 Gene

Start:
72,752,169 bp from pter
End:
72,782,153 bp from pter
Size:
29,985 bases
Orientation:
Minus strand

Genomic View for DIS3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DIS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIS3 Gene

Regulatory Elements for DIS3 Gene

Proteins for DIS3 Gene

  • Protein details for DIS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2L1-RRP44_HUMAN
    Recommended name:
    Exosome complex exonuclease RRP44
    Protein Accession:
    Q9Y2L1
    Secondary Accessions:
    • A6NI21
    • B2RBL2
    • Q5W0P7
    • Q5W0P8
    • Q658Z7
    • Q7Z481
    • Q8WWI2
    • Q9UG36

    Protein attributes for DIS3 Gene

    Size:
    958 amino acids
    Molecular mass:
    109003 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Component of the RNA exosome complex. The catalytically inactive RNA exosome core (Exo-9) complex is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms
    Miscellaneous:
    • The association of DIS3 with the RNA exosome complex appears to be weak explaining its absence in some complex purifications
    SequenceCaution:
    • Sequence=BAA76852.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for DIS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIS3 Gene

Proteomics data for DIS3 Gene at MOPED

Selected DME Specific Peptides for DIS3 Gene

Post-translational modifications for DIS3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys118, Lys199, Lys236, Lys242, Lys462, Lys815, and Lys922

Other Protein References for DIS3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for DIS3 Gene

UniProtKB/Swiss-Prot:

RRP44_HUMAN
Domain:
  • Contains 1 PINc domain.:
    • Q9Y2L1
Family:
  • Belongs to the RNR ribonuclease family.:
    • Q9Y2L1
genes like me logo Genes that share domains with DIS3: view

No data available for Gene Families for DIS3 Gene

Function for DIS3 Gene

Molecular function for DIS3 Gene

UniProtKB/Swiss-Prot Function: Putative 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. DIS3 has both 3-5 exonuclease and endonuclease activities.

Enzyme Numbers (IUBMB) for DIS3 Gene

Gene Ontology (GO) - Molecular Function for DIS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000175 3-5-exoribonuclease activity IMP 20531386
GO:0003723 RNA binding IEA --
GO:0004519 endonuclease activity IMP 20531386
GO:0005085 guanyl-nucleotide exchange factor activity IDA 9562621
GO:0005515 protein binding IPI 15231747
genes like me logo Genes that share ontologies with DIS3: view

Phenotypes for DIS3 Gene

GenomeRNAi human phenotypes for DIS3:
genes like me logo Genes that share phenotypes with DIS3: view

miRNA for DIS3 Gene

miRTarBase miRNAs that target DIS3

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for DIS3 Gene

Localization for DIS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIS3 Gene

Cytoplasm. Nucleus, nucleolus. Nucleus, nucleoplasm. Nucleus. Note=Predominantly located in the nucleus. According to PubMed:12429849, found in the nucleolus and according to PubMed:20531386, excluded from nucleolus supporting the existence of a nucleolar RNA exosome complex devoid of DIS3.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DIS3 Gene COMPARTMENTS Subcellular localization image for DIS3 gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for DIS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000176 nuclear exosome (RNase complex) IDA 20531386
GO:0000177 cytoplasmic exosome (RNase complex) IBA --
GO:0000178 exosome (RNase complex) TAS 9562621
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA 20531389
genes like me logo Genes that share ontologies with DIS3: view

Pathways for DIS3 Gene

genes like me logo Genes that share pathways with DIS3: view

Pathways by source for DIS3 Gene

1 KEGG pathway for DIS3 Gene

Gene Ontology (GO) - Biological Process for DIS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000288 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay TAS --
GO:0006364 rRNA processing TAS 9562621
GO:0006402 mRNA catabolic process IBA --
GO:0010467 gene expression TAS --
GO:0016070 RNA metabolic process --
genes like me logo Genes that share ontologies with DIS3: view

Transcripts for DIS3 Gene

Unigene Clusters for DIS3 Gene

DIS3 mitotic control homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DIS3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^
SP1: - - -
SP2: -
SP3:
SP4: -
SP5: -
SP6: -

ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for DIS3 Gene

GeneLoc Exon Structure for
DIS3
ECgene alternative splicing isoforms for
DIS3

Expression for DIS3 Gene

mRNA expression in normal human tissues for DIS3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DIS3 Gene

SOURCE GeneReport for Unigene cluster for DIS3 Gene Hs.744104

mRNA Expression by UniProt/SwissProt for DIS3 Gene

Q9Y2L1-RRP44_HUMAN
Tissue specificity: Widely expressed
genes like me logo Genes that share expressions with DIS3: view

Orthologs for DIS3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DIS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DIS3 36
  • 99.58 (n)
  • 99.48 (a)
DIS3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DIS3 36
  • 90.91 (n)
  • 93.4 (a)
DIS3 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DIS3 36
  • 91.8 (n)
  • 94.87 (a)
DIS3 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dis3 36
  • 86.62 (n)
  • 91.46 (a)
Dis3 16
Dis3 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DIS3 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIS3 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dis3 36
  • 88.57 (n)
  • 92.51 (a)
chicken
(Gallus gallus)
Aves DIS3 36
  • 76.86 (n)
  • 82.17 (a)
DIS3 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIS3 37
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32649 36
tropical clawed frog
(Silurana tropicalis)
Amphibia dis3 36
  • 73.89 (n)
  • 80.15 (a)
Str.18497 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11258 36
zebrafish
(Danio rerio)
Actinopterygii dis3 36
  • 68.11 (n)
  • 74.42 (a)
dis3 37
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005191 36
  • 55.25 (n)
  • 58.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta Dis3 36
  • 55.92 (n)
  • 56.88 (a)
Dis3 37
  • 54 (a)
OneToOne
CG16940 38
  • 31 (a)
Dis3 38
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea dis-3 36
  • 53.51 (n)
  • 47.26 (a)
dis-3 37
  • 44 (a)
OneToOne
C04G2.6 38
  • 45 (a)
F48E8.6 38
  • 31 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL031C 36
  • 51.79 (n)
  • 46.84 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIS3 36
  • 53.57 (n)
  • 46.87 (a)
DIS3 37
  • 42 (a)
OneToMany
DIS3 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10835g 36
  • 53.5 (n)
  • 47.09 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2763 36
  • 54.08 (n)
  • 50.61 (a)
rice
(Oryza sativa)
Liliopsida Os03g0129200 36
  • 54.13 (n)
  • 50.58 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03065 36
  • 52.19 (n)
  • 48.73 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dis3 36
  • 54.05 (n)
  • 48.31 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.125 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 62 (a)
OneToOne
Species with no ortholog for DIS3:
  • 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)
  • 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 DIS3 Gene

ENSEMBL:
Gene Tree for DIS3 (if available)
TreeFam:
Gene Tree for DIS3 (if available)

Paralogs for DIS3 Gene

Paralogs for DIS3 Gene

Selected SIMAP similar genes for DIS3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DIS3: view

Variants for DIS3 Gene

Sequence variations from dbSNP and Humsavar for DIS3 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs12837 -- 72,759,231(-) TGGGA(A/T)TTGGT utr-variant-3-prime
rs765496 -- 72,779,961(+) TATAA(C/T)GTAAT intron-variant
rs765497 -- 72,779,882(+) AATAT(A/C/G)TATAA intron-variant
rs1060841 -- 72,758,790(-) GTAAA(C/T)TATCT utr-variant-3-prime, downstream-variant-500B
rs1318737 -- 72,767,073(+) ACTTA(C/T)CACAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DIS3 Gene

Variant ID Type Subtype PubMed ID
esv2626867 CNV Deletion 19546169

Relevant External Links for DIS3 Gene

HapMap Linkage Disequilibrium report
DIS3

Disorders for DIS3 Gene

No disorders were found for DIS3 Gene.

No data available for UniProtKB/Swiss-Prot for DIS3 Gene

Publications for DIS3 Gene

  1. Human dis3p, which binds to either GTP- or GDP-Ran, complements Saccharomyces cerevisiae dis3. (PMID: 9562621) Shiomi T. … Nishimoto T. (J. Biochem. 1998) 2 3 4
  2. A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes. (PMID: 11935316) Rozenblum E. … Kallioniemi O.-P. (Hum. Genet. 2002) 2 3 4
  3. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A. … Diaz J.-J. (Mol. Biol. Cell 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 DIS3 Gene

Sources for DIS3 Gene

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