Human Gene DIS3 (ENST00000377767.9_7) from GENCODE V47lift37
  Description: DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease, transcript variant 1 (from RefSeq NM_014953.5)
Gencode Transcript: ENST00000377767.9_7
Gencode Gene: ENSG00000083520.15_9
Transcript (Including UTRs)
   Position: hg19 chr13:73,326,307-73,356,038 Size: 29,732 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg19 chr13:73,333,933-73,355,970 Size: 22,038 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:73,326,307-73,356,038)mRNA (may differ from genome)Protein (958 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RRP44_HUMAN
DESCRIPTION: RecName: Full=Exosome complex exonuclease RRP44; EC=3.1.13.-; EC=3.1.26.-; AltName: Full=Protein DIS3 homolog; AltName: Full=Ribosomal RNA-processing protein 44;
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.
COFACTOR: Magnesium and manganese.
SUBUNIT: 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.
INTERACTION: Q9NQT5:EXOSC3; NbExp=2; IntAct=EBI-373539, EBI-371866;
SUBCELLULAR LOCATION: 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.
TISSUE SPECIFICITY: Widely expressed.
MISCELLANEOUS: The association of DIS3 with the RNA exosome complex appears to be weak explaining its absence in some complex purifications.
SIMILARITY: Belongs to the RNR ribonuclease family.
SIMILARITY: Contains 1 PINc domain.
SEQUENCE CAUTION: Sequence=BAA76852.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DIS3
Diseases sorted by gene-association score: combat disorder (16), acute stress disorder (11), rieger syndrome, type 2 (10), perlman syndrome (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.62 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 469.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.9068-0.263 Picture PostScript Text
3' UTR -2006.207626-0.263 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006596 - PINc_nuc-bd
IPR001900 - RNase_II/R
IPR022966 - RNase_II/R_CS

Pfam Domains:
PF00773 - RNB domain
PF13638 - PIN domain
PF17215 - S1 domain
PF17216 - Rrp44-like cold shock domain
PF17849 - Dis3-like cold-shock domain 2 (CSD2)
PF17876 - Cold shock domain

SCOP Domains:
50249 - Nucleic acid-binding proteins
88723 - PIN domain-like
52833 - Thioredoxin-like

ModBase Predicted Comparative 3D Structure on Q9Y2L1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000175 3'-5'-exoribonuclease activity
GO:0003723 RNA binding
GO:0004518 nuclease activity
GO:0004519 endonuclease activity
GO:0004527 exonuclease activity
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0016787 hydrolase activity

Biological Process:
GO:0006364 rRNA processing
GO:0016075 rRNA catabolic process
GO:0043488 regulation of mRNA stability
GO:0043928 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay
GO:0071034 CUT catabolic process
GO:0090305 nucleic acid phosphodiester bond hydrolysis
GO:0090503 RNA phosphodiester bond hydrolysis, exonucleolytic

Cellular Component:
GO:0000176 nuclear exosome (RNase complex)
GO:0000178 exosome (RNase complex)
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0005730 nucleolus


-  Descriptions from all associated GenBank mRNAs
  AK095410 - Homo sapiens cDNA FLJ38091 fis, clone CTONG2026770.
JD149215 - Sequence 130239 from Patent EP1572962.
JD149213 - Sequence 130237 from Patent EP1572962.
JD452585 - Sequence 433609 from Patent EP1572962.
JD452584 - Sequence 433608 from Patent EP1572962.
AF035310 - Homo sapiens clone 23811 mRNA sequence.
U79246 - Human clone 23799 mRNA sequence.
AF330044 - Homo sapiens KIAA1008 protein mRNA, complete cds.
JD491070 - Sequence 472094 from Patent EP1572962.
JD299228 - Sequence 280252 from Patent EP1572962.
JD307675 - Sequence 288699 from Patent EP1572962.
JD311169 - Sequence 292193 from Patent EP1572962.
JD307696 - Sequence 288720 from Patent EP1572962.
JD564660 - Sequence 545684 from Patent EP1572962.
JD556512 - Sequence 537536 from Patent EP1572962.
JD324751 - Sequence 305775 from Patent EP1572962.
JD270982 - Sequence 252006 from Patent EP1572962.
JD292193 - Sequence 273217 from Patent EP1572962.
JD087802 - Sequence 68826 from Patent EP1572962.
JD492500 - Sequence 473524 from Patent EP1572962.
JD066929 - Sequence 47953 from Patent EP1572962.
JD176595 - Sequence 157619 from Patent EP1572962.
JD372433 - Sequence 353457 from Patent EP1572962.
JD307284 - Sequence 288308 from Patent EP1572962.
JD156916 - Sequence 137940 from Patent EP1572962.
JD142081 - Sequence 123105 from Patent EP1572962.
JD235226 - Sequence 216250 from Patent EP1572962.
JD344871 - Sequence 325895 from Patent EP1572962.
JD088049 - Sequence 69073 from Patent EP1572962.
JD081268 - Sequence 62292 from Patent EP1572962.
JD146502 - Sequence 127526 from Patent EP1572962.
JD352150 - Sequence 333174 from Patent EP1572962.
JD134560 - Sequence 115584 from Patent EP1572962.
JD106020 - Sequence 87044 from Patent EP1572962.
JD517841 - Sequence 498865 from Patent EP1572962.
JD219915 - Sequence 200939 from Patent EP1572962.
JD366631 - Sequence 347655 from Patent EP1572962.
JD230741 - Sequence 211765 from Patent EP1572962.
JD081406 - Sequence 62430 from Patent EP1572962.
JD496921 - Sequence 477945 from Patent EP1572962.
JD551844 - Sequence 532868 from Patent EP1572962.
JD356964 - Sequence 337988 from Patent EP1572962.
AB023225 - Homo sapiens KIAA1008 mRNA for KIAA1008 protein.
JD109488 - Sequence 90512 from Patent EP1572962.
JD287850 - Sequence 268874 from Patent EP1572962.
JD364655 - Sequence 345679 from Patent EP1572962.
JD534449 - Sequence 515473 from Patent EP1572962.
JD292416 - Sequence 273440 from Patent EP1572962.
JD092028 - Sequence 73052 from Patent EP1572962.
JD183859 - Sequence 164883 from Patent EP1572962.
JD333758 - Sequence 314782 from Patent EP1572962.
JD176396 - Sequence 157420 from Patent EP1572962.
JD138401 - Sequence 119425 from Patent EP1572962.
JD401652 - Sequence 382676 from Patent EP1572962.
JD322975 - Sequence 303999 from Patent EP1572962.
JD307096 - Sequence 288120 from Patent EP1572962.
JD434928 - Sequence 415952 from Patent EP1572962.
JD529715 - Sequence 510739 from Patent EP1572962.
JD307095 - Sequence 288119 from Patent EP1572962.
JD169947 - Sequence 150971 from Patent EP1572962.
JD434927 - Sequence 415951 from Patent EP1572962.
JD529714 - Sequence 510738 from Patent EP1572962.
JD557539 - Sequence 538563 from Patent EP1572962.
JD434929 - Sequence 415953 from Patent EP1572962.
JD529716 - Sequence 510740 from Patent EP1572962.
JD557540 - Sequence 538564 from Patent EP1572962.
JD430480 - Sequence 411504 from Patent EP1572962.
JD395436 - Sequence 376460 from Patent EP1572962.
JD425087 - Sequence 406111 from Patent EP1572962.
JD395435 - Sequence 376459 from Patent EP1572962.
JD401650 - Sequence 382674 from Patent EP1572962.
JD306646 - Sequence 287670 from Patent EP1572962.
JD395434 - Sequence 376458 from Patent EP1572962.
JD401649 - Sequence 382673 from Patent EP1572962.
JD169946 - Sequence 150970 from Patent EP1572962.
JD434926 - Sequence 415950 from Patent EP1572962.
JD063173 - Sequence 44197 from Patent EP1572962.
JD407281 - Sequence 388305 from Patent EP1572962.
JD280021 - Sequence 261045 from Patent EP1572962.
JD426658 - Sequence 407682 from Patent EP1572962.
JD545108 - Sequence 526132 from Patent EP1572962.
JD411800 - Sequence 392824 from Patent EP1572962.
JD417580 - Sequence 398604 from Patent EP1572962.
JD275712 - Sequence 256736 from Patent EP1572962.
JD112007 - Sequence 93031 from Patent EP1572962.
JD158872 - Sequence 139896 from Patent EP1572962.
JD138936 - Sequence 119960 from Patent EP1572962.
JD561272 - Sequence 542296 from Patent EP1572962.
JD379049 - Sequence 360073 from Patent EP1572962.
JD347995 - Sequence 329019 from Patent EP1572962.
JD566568 - Sequence 547592 from Patent EP1572962.
JD239108 - Sequence 220132 from Patent EP1572962.
JD452640 - Sequence 433664 from Patent EP1572962.
JD474987 - Sequence 456011 from Patent EP1572962.
JD316088 - Sequence 297112 from Patent EP1572962.
JD306697 - Sequence 287721 from Patent EP1572962.
JD131155 - Sequence 112179 from Patent EP1572962.
JD500815 - Sequence 481839 from Patent EP1572962.
JD243918 - Sequence 224942 from Patent EP1572962.
JD162098 - Sequence 143122 from Patent EP1572962.
JD563542 - Sequence 544566 from Patent EP1572962.
JD201588 - Sequence 182612 from Patent EP1572962.
JD286972 - Sequence 267996 from Patent EP1572962.
JD261086 - Sequence 242110 from Patent EP1572962.
JD419523 - Sequence 400547 from Patent EP1572962.
JD490644 - Sequence 471668 from Patent EP1572962.
JD412485 - Sequence 393509 from Patent EP1572962.
JD287980 - Sequence 269004 from Patent EP1572962.
AK001346 - Homo sapiens cDNA FLJ10484 fis, clone NT2RP2000161, highly similar to Exosome complex exonuclease RRP44 (EC 3.1.13.-).
BC056143 - Homo sapiens DIS3 mitotic control homolog (S. cerevisiae), mRNA (cDNA clone MGC:64876 IMAGE:5505671), complete cds.
BC038101 - Homo sapiens DIS3 mitotic control homolog (S. cerevisiae), mRNA (cDNA clone MGC:33035 IMAGE:4827328), complete cds.
JD557611 - Sequence 538635 from Patent EP1572962.
AB001743 - Homo sapiens mRNA for DIS3, complete cds.
AL080158 - Homo sapiens mRNA; cDNA DKFZp434L194 (from clone DKFZp434L194).
JD516242 - Sequence 497266 from Patent EP1572962.
AL832266 - Homo sapiens mRNA; cDNA DKFZp667L1817 (from clone DKFZp667L1817).
JD087624 - Sequence 68648 from Patent EP1572962.
KJ902250 - Synthetic construct Homo sapiens clone ccsbBroadEn_11644 DIS3 gene, encodes complete protein.
AK314715 - Homo sapiens cDNA, FLJ95573, Homo sapiens mitotic control protein dis3 homolog (DIS3), mRNA.
AB385417 - Synthetic construct DNA, clone: pF1KA1008, Homo sapiens DIS3 gene for exosome complex exonuclease RRP44, complete cds, without stop codon, in Flexi system.
AK025634 - Homo sapiens cDNA: FLJ21981 fis, clone HEP06123.
BC012468 - Homo sapiens KIAA1008, mRNA (cDNA clone IMAGE:4509136), with apparent retained intron.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y2L1 (Reactome details) participates in the following event(s):

R-HSA-450422 KSRP recruits RNA degradation activities
R-HSA-450431 ZFP36 (TTP) recruits RNA degradation activities
R-HSA-450488 BRF1 Complex recruits RNA degradation activities
R-HSA-430028 Exosome Complex hydrolyzes mRNA by 3' to 5' exoribonuclease digestion
R-HSA-450604 KSRP (KHSRP) binds and destabilizes mRNA
R-HSA-450513 Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
R-HSA-450385 Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
R-HSA-450531 Regulation of mRNA stability by proteins that bind AU-rich elements
R-HSA-429958 mRNA decay by 3' to 5' exoribonuclease
R-HSA-8953854 Metabolism of RNA
R-HSA-429914 Deadenylation-dependent mRNA decay

-  Other Names for This Gene
  Alternate Gene Symbols: A6NI21, B2RBL2, ENST00000377767.1, ENST00000377767.2, ENST00000377767.3, ENST00000377767.4, ENST00000377767.5, ENST00000377767.6, ENST00000377767.7, ENST00000377767.8, KIAA1008, NM_014953, Q5W0P7, Q5W0P8, Q658Z7, Q7Z481, Q8WWI2, Q9UG36, Q9Y2L1, RRP44, RRP44_HUMAN, uc318nvi.1, uc318nvi.2
UCSC ID: ENST00000377767.9_7
RefSeq Accession: NM_014953.5
Protein: Q9Y2L1 (aka RRP44_HUMAN or RR44_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.