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    DIS3L DIS3 like exosome 3'-5' exoribonuclease [ Homo sapiens (human) ]

    Gene ID: 115752, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DIS3Lprovided by HGNC
    Official Full Name
    DIS3 like exosome 3'-5' exoribonucleaseprovided by HGNC
    Primary source
    HGNC:HGNC:28698
    See related
    Ensembl:ENSG00000166938 MIM:614183; AllianceGenome:HGNC:28698
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DIS3L1
    Summary
    The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.4), testis (RPKM 7.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DIS3L in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (66293309..66333898)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (64114976..64155634)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (66585647..66626236)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene multiple EGF like domains 11 Neighboring gene uncharacterized LOC105370867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66315774-66316274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66316275-66316775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66340493-66341368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66349054-66349554 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:66357857-66358057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66358200-66358762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66365553-66366053 Neighboring gene microRNA 4311 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:66371850-66372818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:66372819-66373785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66388655-66389435 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:66408056-66408295 Neighboring gene Sharpr-MPRA regulatory region 9514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66435333-66436223 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66460026-66460820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66461585-66462085 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:66472833-66473489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6562 Neighboring gene DIS3L antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66591355-66591855 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:66630872-66631107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9611 Neighboring gene small Cajal body-specific RNA 14 Neighboring gene TIMELESS interacting protein Neighboring gene ribosomal protein L9 pseudogene 25

    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 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. HELZ2: a new, interferon-regulated, human 3'-5' exoribonuclease of the RNB family is expressed from a non-canonical initiation codon. Huntzinger E, et al. Nucleic Acids Res, 2023 Sep 22. PMID 37602378, Free PMC Article
    2. Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans. Lee JY, et al. J Genet, 2017 Dec. PMID 29321365
    3. Exonuclease hDIS3L2 specifies an exosome-independent 3'-5' degradation pathway of human cytoplasmic mRNA. Lubas M, et al. EMBO J, 2013 Jul 3. PMID 23756462, Free PMC Article
    4. Addition of poly(A) and poly(A)-rich tails during RNA degradation in the cytoplasm of human cells. Slomovic S, et al. Proc Natl Acad Sci U S A, 2010 Apr 20. PMID 20368444, Free PMC Article
    5. Dis3-like 1: a novel exoribonuclease associated with the human exosome. Staals RH, et al. EMBO J, 2010 Jul 21. PMID 20531389, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. we screened the susceptibility loci for Myocardial infarction (MI) using exome sequencing and validated candidate variants in replication sets. We identified that three genes (GYG1, DIS3L and DDRGK1) were associated with MI at the discovery and replication stages.
      Title: Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans.
    2. Data indicate that hDis3L1 is a novel exosome-associated exoribonuclease in the cytoplasm of human cells.
      Title: Dis3-like 1: a novel exoribonuclease associated with the human exosome.
    3. Data show that hDIS3 and hDIS3L are active exonucleases, but only hDIS3 has retained endonucleolytic activity, and suggest that three different ribonucleases can serve as catalytic subunits for the exosome in human cells.
      Title: The human core exosome interacts with differentially localized processive RNases: hDIS3 and hDIS3L.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4562, FLJ38088, KIAA1955

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3'-5'-RNA exonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables exoribonuclease II 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 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 mRNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in rRNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in rRNA catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in rRNA catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    part_of cytoplasmic exosome (RNase complex) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytoplasmic exosome (RNase complex) IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of cytoplasmic exosome (RNase complex) NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    DIS3-like exonuclease 1
    Names
    DIS3 mitotic control homolog-like
    NP_001137160.1
    NP_001310865.1
    NP_001310866.1
    NP_001310867.1
    NP_001310868.1
    NP_001310869.1
    NP_001310870.1
    NP_001310872.1
    NP_001310873.1
    NP_001310874.1
    NP_001310875.1
    NP_001310877.1
    NP_588616.1
    XP_005254203.1
    XP_054233228.1

    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.

    Genomic

    1. NG_050688.1 RefSeqGene

      Range
      5313..45643
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001143688.3 → NP_001137160.1  DIS3-like exonuclease 1 isoform 1

      See identical proteins and their annotated locations for NP_001137160.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC055855
      Consensus CDS
      CCDS45286.1
      UniProtKB/Swiss-Prot
      Q8N1N8, Q8TF46, Q8WTU9, Q96CM7
      Related
      ENSP00000321711.4, ENST00000319212.9
      Conserved Domains (2) summary
      COG0557
      Location:265 → 955
      VacB; Exoribonuclease R [Transcription]
      cd09862
      Location:11 → 188
      PIN_Rrp44-like; VapC-like PIN domain of yeast exosome subunit Rrp44 endoribonuclease and other eukaryotic homologs

    2. NM_001323936.2 → NP_001310865.1  DIS3-like exonuclease 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC055855
      Consensus CDS
      CCDS10214.1
      UniProtKB/Swiss-Prot
      Q8TF46
      Conserved Domains (2) summary
      COG0557
      Location:182 → 872
      VacB; Exoribonuclease R [Transcription]
      cl14812
      Location:2 → 105
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    3. NM_001323937.2 → NP_001310866.1  DIS3-like exonuclease 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC055855
      Conserved Domains (2) summary
      COG0557
      Location:139 → 829
      VacB; Exoribonuclease R [Transcription]
      pfam00773
      Location:339 → 689
      RNB; RNB domain

    4. NM_001323938.2 → NP_001310867.1  DIS3-like exonuclease 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC055855
      UniProtKB/Swiss-Prot
      Q8TF46
      Conserved Domains (2) summary
      COG0557
      Location:131 → 821
      VacB; Exoribonuclease R [Transcription]
      pfam00773
      Location:331 → 681
      RNB; RNB domain

    5. NM_001323939.2 → NP_001310868.1  DIS3-like exonuclease 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC055855
      UniProtKB/Swiss-Prot
      Q8TF46
      Conserved Domains (2) summary
      COG0557
      Location:131 → 821
      VacB; Exoribonuclease R [Transcription]
      pfam00773
      Location:331 → 681
      RNB; RNB domain

    6. NM_001323940.2 → NP_001310869.1  DIS3-like exonuclease 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC055855

    7. NM_001323941.2 → NP_001310870.1  DIS3-like exonuclease 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC055855
      UniProtKB/Swiss-Prot
      Q8TF46
      Conserved Domains (2) summary
      COG0557
      Location:131 → 821
      VacB; Exoribonuclease R [Transcription]
      pfam00773
      Location:331 → 681
      RNB; RNB domain

    8. NM_001323943.2 → NP_001310872.1  DIS3-like exonuclease 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC055855

    9. NM_001323944.2 → NP_001310873.1  DIS3-like exonuclease 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC055855
      Conserved Domains (3) summary
      COG0557
      Location:248 → 938
      VacB; Exoribonuclease R [Transcription]
      pfam00773
      Location:448 → 798
      RNB; RNB domain
      cl14812
      Location:14 → 171
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    10. NM_001323945.2 → NP_001310874.1  DIS3-like exonuclease 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC055855
      Consensus CDS
      CCDS10214.1
      UniProtKB/Swiss-Prot
      Q8TF46
      Conserved Domains (2) summary
      COG0557
      Location:182 → 872
      VacB; Exoribonuclease R [Transcription]
      cl14812
      Location:2 → 105
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    11. NM_001323946.2 → NP_001310875.1  DIS3-like exonuclease 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC055855
      UniProtKB/Swiss-Prot
      Q8TF46
      Conserved Domains (2) summary
      COG0557
      Location:131 → 821
      VacB; Exoribonuclease R [Transcription]
      pfam00773
      Location:331 → 681
      RNB; RNB domain

    12. NM_001323948.2 → NP_001310877.1  DIS3-like exonuclease 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC055855

    13. NM_133375.5 → NP_588616.1  DIS3-like exonuclease 1 isoform 2

      See identical proteins and their annotated locations for NP_588616.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents an alternate first exon and the transcript has a smaller open reading frame compared to variant 1. The resulting protein isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC055855
      Consensus CDS
      CCDS10214.1
      UniProtKB/Swiss-Prot
      Q8TF46
      Related
      ENSP00000321583.5, ENST00000319194.9
      Conserved Domains (2) summary
      COG0557
      Location:182 → 872
      VacB; Exoribonuclease R [Transcription]
      cl14812
      Location:2 → 105
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      66293309..66333898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254146.5 → XP_005254203.1  DIS3-like exonuclease 1 isoform X1

      Conserved Domains (3) summary
      COG0557
      Location:265 → 843
      VacB; Exoribonuclease R [Transcription]
      pfam00773
      Location:465 → 815
      RNB; RNB domain
      cl14812
      Location:12 → 188
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      64114976..64155634
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377253.1 → XP_054233228.1  DIS3-like exonuclease 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TF46.2 GenPept UniProtKB/Swiss-Prot:Q8TF46

    Gene LinkOut

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

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