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Aliases for DIS3 Gene

Aliases for DIS3 Gene

  • DIS3 Homolog, Exosome Endoribonuclease And 3'-5' Exoribonuclease 2
  • DIS3 Homolog, Exosome Endoribonuclease And 3-5 Exoribonuclease 2 3 5
  • KIAA1008 2 3 4
  • Ribosomal RNA-Processing Protein 44 3 4
  • Exosome Component 11 2 3
  • RRP44 3 4
  • DIS3 Exosome Endoribonuclease And 3-5 Exoribonuclease 3
  • 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 61
  • EXOSC11 3
  • Dis3p 3

External Ids for DIS3 Gene

Previous HGNC Symbols for DIS3 Gene

  • KIAA1008

Previous GeneCards Identifiers for DIS3 Gene

  • GC13M071296
  • GC13M067324
  • GC13M072266
  • GC13M071127
  • GC13M073329
  • GC13M054026

Summaries for DIS3 Gene

GeneCards Summary for DIS3 Gene

DIS3 (DIS3 Homolog, Exosome Endoribonuclease And 3'-5' Exoribonuclease) is a Protein Coding gene. Diseases associated with DIS3 include Perlman Syndrome and Rieger Syndrome, Type 2. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Deadenylation-dependent mRNA decay. 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 , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIS3 Gene

Genomics for DIS3 Gene

Regulatory Elements for DIS3 Gene

Enhancers for DIS3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G072821 0.6 ENCODE 10.4 -38.7 -38675 0.1 ZBTB21 ATF2 ZSCAN21 ZNF664 OSR2 ZNF629 PRDM10 SP7 TRIM28 PIBF1 DIS3 GC13M072882 RNU6-79P
GH13G072820 0.5 ENCODE 10.4 -38.8 -38788 0.0 PRDM10 SP7 TRIM28 PIBF1 DIS3 GC13M072882 RNU6-79P
GH13G072780 1.1 ENCODE 0.7 +0.0 21 3.3 HDGF PKNOX1 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 PIBF1 DIS3
GH13G072863 0.5 ENCODE 0.2 -82.7 -82680 2.1 ZBED1 JUNB RELB CREM PIBF1 RNU6-79P GC13M072882 DIS3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DIS3 on UCSC Golden Path with GeneCards custom track

Promoters for DIS3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000063587 53 2601 HDGF PKNOX1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1

Genomic Location for DIS3 Gene

Chromosome:
13
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

Genes around DIS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for DIS3 Gene

Q9Y2L1:
  • NKEKAIE
  • GVHIADV
  • YTHFTSPIRRY
  • PTGRVVGI
  • NDRNDRAIR
  • FHHYGLA
  • VREHYLR
  • EEFMLLAN

Post-translational modifications for DIS3 Gene

  • Ubiquitination at Lys118, Lys199, isoforms=2236, isoforms=2242, Lys462, and Lys815
  • Modification sites at PhosphoSitePlus

Other Protein References for DIS3 Gene

Domains & Families for DIS3 Gene

Gene Families for DIS3 Gene

Suggested Antigen Peptide Sequences for DIS3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2L1

UniProtKB/Swiss-Prot:

RRP44_HUMAN :
  • Belongs to the RNR ribonuclease family.
Family:
  • Belongs to the RNR ribonuclease family.
genes like me logo Genes that share domains with DIS3: view

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 TAS --
GO:0003723 RNA binding IEA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IMP 20531386
GO:0004527 exonuclease activity IEA --
genes like me logo Genes that share ontologies with DIS3: view
genes like me logo Genes that share phenotypes with DIS3: view

Animal Models for DIS3 Gene

MGI Knock Outs for DIS3:
  • Dis3 tm1e.1(EUCOMM)Hmgu

Animal Model Products

  • Taconic Biosciences Mouse Models for DIS3

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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 (PubMed:20531386). According to PubMed:12429849, found in the nucleolus (PubMed:12429849). According to PubMed:20531386, excluded from nucleolus supporting the existence of a nucleolar RNA exosome complex devoid of DIS3 (PubMed:20531386). {ECO:0000269 PubMed:12429849, ECO:0000269 PubMed:20531386}.

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 DIS3 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2

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:0000178 exosome (RNase complex) TAS 9562621
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA,IEA 20531389
GO:0005730 NOT nucleolus IDA 20531386
genes like me logo Genes that share ontologies with DIS3: view

Pathways & Interactions for DIS3 Gene

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

Pathways by source for DIS3 Gene

Gene Ontology (GO) - Biological Process for DIS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing TAS 9562621
GO:0016075 rRNA catabolic process IMP 20368444
GO:0043488 regulation of mRNA stability TAS --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0043928 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay TAS --
genes like me logo Genes that share ontologies with DIS3: view

No data available for SIGNOR curated interactions for DIS3 Gene

Drugs & Compounds for DIS3 Gene

No Compound Related Data Available

Transcripts for DIS3 Gene

Unigene Clusters for DIS3 Gene

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

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for DIS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DIS3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.1) and Lymph node (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DIS3 Gene



Protein tissue co-expression partners for DIS3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DIS3 Gene:

DIS3

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.

Evidence on tissue expression from TISSUES for DIS3 Gene

  • Nervous system(4.7)
  • Blood(4.3)
  • Lymph node(4.2)
genes like me logo Genes that share expression patterns with DIS3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DIS3 Gene

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 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia DIS3 34 35
  • 91.8 (n)
cow
(Bos Taurus)
Mammalia DIS3 34 35
  • 90.91 (n)
rat
(Rattus norvegicus)
Mammalia Dis3 34
  • 88.57 (n)
oppossum
(Monodelphis domestica)
Mammalia DIS3 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dis3 34 16 35
  • 86.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DIS3 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves DIS3 34 35
  • 76.86 (n)
lizard
(Anolis carolinensis)
Reptilia DIS3 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dis3 34
  • 73.89 (n)
Str.18497 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.32649 34
zebrafish
(Danio rerio)
Actinopterygii dis3 34 35
  • 68.11 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11258 34
fruit fly
(Drosophila melanogaster)
Insecta Dis3 36 34 35
  • 55.92 (n)
CG16940 36
  • 31 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005191 34
  • 55.25 (n)
worm
(Caenorhabditis elegans)
Secernentea dis-3 34 35
  • 53.51 (n)
C04G2.6 36
  • 45 (a)
F48E8.6 36
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIS3 34 35 37
  • 53.57 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10835g 34
  • 53.5 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL031C 34
  • 51.79 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2763 34
  • 54.08 (n)
rice
(Oryza sativa)
Liliopsida Os03g0129200 34
  • 54.13 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 62 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dis3 34
  • 54.05 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03065 34
  • 52.19 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.125 34
Species where no ortholog for DIS3 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)
  • 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

(2) 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
rs1000033807 -- 72,768,077(+) TTTTA(A/G)TTGCC intron-variant
rs1000158630 -- 72,754,915(+) CACTA(C/T)GTTGC intron-variant, downstream-variant-500B
rs1000314667 -- 72,778,883(+) GTAGA(C/G)ACTGA intron-variant
rs1000487398 -- 72,767,141(+) TACTT(C/T)AGAAG intron-variant
rs1000495450 -- 72,756,482(+) AAAGT(C/T)AAGAA intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2626867 CNV deletion 19546169
esv3580764 CNV loss 25503493
nsv1049859 CNV loss 25217958
nsv476290 CNV novel sequence insertion 20440878

Variation tolerance for DIS3 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.23; 88.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DIS3 Gene

Human Gene Mutation Database (HGMD)
DIS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIS3 Gene

Disorders for DIS3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DIS3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
perlman syndrome
  • nephroblastomatosis - fetal ascites - macrosomia - wilms tumor
rieger syndrome, type 2
  • axenfeld-rieger syndrome type 2
- elite association - COSMIC cancer census association via MalaCards
Search DIS3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DIS3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DIS3
genes like me logo Genes that share disorders with DIS3: view

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

Publications for DIS3 Gene

  1. 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 64
  2. 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 64
  3. The human core exosome interacts with differentially localized processive RNases: hDIS3 and hDIS3L. (PMID: 20531386) Tomecki R. … Jensen T.H. (EMBO J. 2010) 3 4 64
  4. Dis3-like 1: a novel exoribonuclease associated with the human exosome. (PMID: 20531389) Staals R.H. … Pruijn G.J. (EMBO J. 2010) 3 4 64
  5. RNA exosome depletion reveals transcription upstream of active human promoters. (PMID: 19056938) Preker P. … Jensen T.H. (Science 2008) 3 4 64

Products for DIS3 Gene

Sources for DIS3 Gene

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