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    DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease [ Homo sapiens (human) ]

    Gene ID: 22894, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DIS3provided by HGNC
    Official Full Name
    DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonucleaseprovided by HGNC
    Primary source
    HGNC:HGNC:20604
    See related
    Ensembl:ENSG00000083520 MIM:607533; AllianceGenome:HGNC:20604
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RRP44; dis3p; EXOSC11; KIAA1008; 2810028N01Rik
    Summary
    Enables 3'-5'-RNA exonuclease activity; endonuclease activity; and guanyl-nucleotide exchange factor activity. Involved in CUT catabolic process; RNA processing; and rRNA catabolic process. Located in cytosol and nucleoplasm. Part of nuclear exosome (RNase complex). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 10.1), lymph node (RPKM 7.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DIS3 in Genome Data Viewer
    Location:
    13q21.33
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (72752169..72781900, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (71973643..72003383, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (73326307..73356038, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 80, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr13:73301228-73301409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7814 Neighboring gene mitotic spindle organizing protein 1 Neighboring gene BORA aurora kinase A activator Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:73355230-73356144 Neighboring gene progesterone immunomodulatory binding factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:73426017-73426548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:73426549-73427078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7816 Neighboring gene RNA, U6 small nuclear 79, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr13:73509249-73509443 Neighboring gene NANOG hESC enhancer GRCh37_chr13:73534622-73535123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:73610339-73611015 Neighboring gene proteasome 26S subunit, non-ATPase, 10 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. DIS3 isoforms vary in their endoribonuclease activity and are differentially expressed within haematological cancers. Robinson SR, et al. Biochem J, 2018 Jun 29. PMID 29802118, Free PMC Article
    2. Functional characterization of a chr13q22.1 pancreatic cancer risk locus reveals long-range interaction and allele-specific effects on DIS3 expression. Hoskins JW, et al. Hum Mol Genet, 2016 Nov 1. PMID 28172817, Free PMC Article
    3. Loss of ribonuclease DIS3 hampers genome integrity in myeloma by disrupting DNA:RNA hybrid metabolism. Gritti I, et al. EMBO J, 2022 Nov 17. PMID 36215697, Free PMC Article
    4. DIS3 depletion in multiple myeloma causes extensive perturbation in cell cycle progression and centrosome amplification. Favasuli VK, et al. Haematologica, 2024 Jan 1. PMID 37439377, Free PMC Article
    5. DIS3 mutations in multiple myeloma impact the transcriptional signature and clinical outcome. Todoerti K, et al. Haematologica, 2022 Apr 1. PMID 33951891, Free PMC Article

    See all (142) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DIS3 depletion in multiple myeloma causes extensive perturbation in cell cycle progression and centrosome amplification.
      Title: DIS3 depletion in multiple myeloma causes extensive perturbation in cell cycle progression and centrosome amplification.
    2. DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis.
      Title: DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis.
    3. DIS3: The Enigmatic Gene in Multiple Myeloma.
      Title: DIS3: The Enigmatic Gene in Multiple Myeloma.
    4. Loss of ribonuclease DIS3 hampers genome integrity in myeloma by disrupting DNA:RNA hybrid metabolism.
      Title: Loss of ribonuclease DIS3 hampers genome integrity in myeloma by disrupting DNA:RNA hybrid metabolism.
    5. MPP6 stimulates both RRP6 and DIS3 to degrade a specified subset of MTR4-sensitive substrates in the human nucleus.
      Title: MPP6 stimulates both RRP6 and DIS3 to degrade a specified subset of MTR4-sensitive substrates in the human nucleus.
    6. MicroRNA-125a/b-5p promotes malignant behavior in multiple myeloma cells and xenograft tumor growth by targeting DIS3.
      Title: MicroRNA-125a/b-5p promotes malignant behavior in multiple myeloma cells and xenograft tumor growth by targeting DIS3.
    7. DIS3 mutations in multiple myeloma impact the transcriptional signature and clinical outcome.
      Title: DIS3 mutations in multiple myeloma impact the transcriptional signature and clinical outcome.
    8. RNA-regulatory exosome complex confers cellular survival to promote erythropoiesis.
      Title: RNA-regulatory exosome complex confers cellular survival to promote erythropoiesis.
    9. BRAF and DIS3 Mutations Associate with Adverse Outcome in a Long-term Follow-up of Patients with Multiple Myeloma.
      Title: BRAF and DIS3 Mutations Associate with Adverse Outcome in a Long-term Follow-up of Patients with Multiple Myeloma.
    10. Authors engineered cells in which the 3'-->5' exoribonucleases of the exosome complex, DIS3 and EXOSC10, can be rapidly eliminated to assess their immediate roles in nuclear RNA biology. The loss of DIS3 has the greatest impact, causing the substantial accumulation of thousands of transcripts within 60 min.
      Title: Rapid Depletion of DIS3, EXOSC10, or XRN2 Reveals the Immediate Impact of Exoribonucleolysis on Nuclear RNA Metabolism and Transcriptional Control.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10484, MGC33035, DKFZp667L1817

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5'-RNA exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3'-5'-RNA exonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables 3'-5'-RNA exonuclease activity TAS
    Traceable Author Statement
    more info
    		  
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables endonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CUT catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in RNA catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in RNA processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nuclear mRNA surveillance of mRNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay TAS
    Traceable Author Statement
    more info
    		  
    involved_in rRNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in rRNA catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in rRNA processing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of cytoplasmic exosome (RNase complex) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of exosome (RNase complex) NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of exosome (RNase complex) TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    part_of nuclear exosome (RNase complex) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of nuclear exosome (RNase complex) IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear exosome (RNase complex) NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    NOT located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    exosome complex exonuclease RRP44
    Names
    DIS3 exosome endoribonuclease and 3'-5' exoribonuclease
    DIS3 mitotic control homolog
    exosome component 11
    mitotic control protein dis3 homolog
    ribosomal RNA-processing protein 44

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001128226.3 → NP_001121698.1  exosome complex exonuclease RRP44 isoform b

      See identical proteins and their annotated locations for NP_001121698.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon and contains an alternate exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AB023225, AL080158, AL138695, AL832266, U79246
      Consensus CDS
      CCDS45057.1
      UniProtKB/TrEMBL
      A8QI98
      Related
      ENSP00000367011.4, ENST00000377780.8
      Conserved Domains (3) summary
      COG0557
      Location:192 → 900
      VacB; Exoribonuclease R [Transcription]
      pfam00773
      Location:437 → 765
      RNB; RNB domain
      cl14812
      Location:9 → 167
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    2. NM_001322348.2 → NP_001309277.1  exosome complex exonuclease RRP44 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL138695, AL391384
      UniProtKB/TrEMBL
      Q49AG4
      Conserved Domains (3) summary
      COG0557
      Location:99 → 807
      VacB; Exoribonuclease R [Transcription]
      pfam00773
      Location:344 → 672
      RNB; RNB domain
      cl14812
      Location:6 → 74
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    3. NM_001322349.2 → NP_001309278.1  exosome complex exonuclease RRP44 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL138695, AL391384
      Consensus CDS
      CCDS81772.1
      UniProtKB/TrEMBL
      G3V1J5, Q49AG4
      Related
      ENSP00000440058.1, ENST00000545453.5
      Conserved Domains (3) summary
      COG0557
      Location:60 → 768
      VacB; Exoribonuclease R [Transcription]
      pfam00773
      Location:305 → 633
      RNB; RNB domain
      cl14812
      Location:3 → 35
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    4. NM_014953.5 → NP_055768.3  exosome complex exonuclease RRP44 isoform a

      See identical proteins and their annotated locations for NP_055768.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL080158, AL138695, AL832266, BC056143, U79246
      Consensus CDS
      CCDS9447.1
      UniProtKB/Swiss-Prot
      A6NI21, B2RBL2, Q5W0P7, Q5W0P8, Q658Z7, Q7Z481, Q8WWI2, Q9UG36, Q9Y2L1
      UniProtKB/TrEMBL
      A8QI98
      Related
      ENSP00000366997.4, ENST00000377767.9
      Conserved Domains (3) summary
      cd09862
      Location:9 → 197
      PIN_Rrp44; PIN domain of yeast exosome subunit Rrp44 endoribonuclease and other eukaryotic homologs
      COG0557
      Location:222 → 930
      VacB; Exoribonuclease R [Transcription]
      pfam00773
      Location:467 → 795
      RNB; RNB domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      72752169..72781900 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      71973643..72003383 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2L1.2 GenPept UniProtKB/Swiss-Prot:Q9Y2L1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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