U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 22894, updated on 11-Apr-2024

Summary

Go to the top of the page Help
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'-exoribonuclease activity; endonuclease activity; and guanyl-nucleotide exchange factor activity. Involved in CUT catabolic process and rRNA catabolic process. Located in cytosol and nucleoplasm. Part of nuclear exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 10.1), lymph node (RPKM 7.2) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
13q21.33
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (72752169..72781900, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (71973643..72003383, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. DIS3: The Enigmatic Gene in Multiple Myeloma. Ohguchi Y, et al. Int J Mol Sci, 2023 Feb 17. PMID 36835493, Free PMC Article
  2. 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
  3. 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
  4. Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma. Pertesi M, et al. Leukemia, 2019 Sep. PMID 30967618, Free PMC Article
  5. 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

See all (124) 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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous