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

Gene ID: 115752, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (66293309..66333898)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (64114976..64155634)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  4. 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
  5. Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. Li L, et al. BMC Genomics, 2014 Feb 1. PMID 24483146, Free PMC Article

See all (30) 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_2023_10

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

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