DIS3 - DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease Gene

Also Known as RRP44; dis3p; EXOSC11; KIAA1008; 2810028N01Rik

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 22894

About DIS3

Cytogenetic location: 13q21.33 Genomic coordinates (GRCh38): 13:72,752,169-72,781,900 (from NCBI)

This gene has 5 transcripts (splice variants), 238 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 10.1), lymph node (RPKM 7.2) and 25 other tissues.

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]

DIS3 Products (4)

mRNA Protein Name
NM_001128226.3 NP_001121698.1 exosome complex exonuclease RRP44 isoform b
NM_001322348.2 NP_001309277.1 exosome complex exonuclease RRP44 isoform c
NM_001322349.2 NP_001309278.1 exosome complex exonuclease RRP44 isoform d
NM_014953.5 NP_055768.3 exosome complex exonuclease RRP44 isoform a
Molecular Function GO Annotation Evidence References Source
enables 3'-5'-RNA exonuclease activity IMP
IMP: Inferred from mutant phenotype
20531386 GOA
enables endonuclease activity IMP
IMP: Inferred from mutant phenotype
20531386 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
9562621 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15231747 GOA
Biological Process GO Annotation Evidence References Source
involved in CUT catabolic process IMP
IMP: Inferred from mutant phenotype
19056938 GOA
involved in RNA catabolic process IDA
IDA: Inferred from direct assay
17174896 GOA
involved in RNA processing IDA
IDA: Inferred from direct assay
17174896 GOA
involved in rRNA catabolic process IMP
IMP: Inferred from mutant phenotype
20368444 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IDA
IDA: Inferred from direct assay
20531386 GOA
part of nuclear exosome (RNase complex) IDA
IDA: Inferred from direct assay
20531386 GOA
NOT located in nucleolus IDA
IDA: Inferred from direct assay
20531386 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
20531389 GOA
located in nucleus IDA
IDA: Inferred from direct assay
20531386 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DIS3 Protein Structure

PIN_4

PIN_4: PIN domain (68 - 194)

RNB

RNB: RNB domain (467 - 792)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 958 a.a.
Protein Preferred Names Protein Names

exosome complex exonuclease RRP44

  • DIS3 exosome endoribonuclease and 3'-5' exoribonuclease

DIS3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DIS3 Q9Y2L1 EXOSC2 Homo sapiens Q13868 20531386
Intra
DIS3 Q9Y2L1 EXOSC2 Homo sapiens Q13868 33961781
Intra
DIS3 Q9Y2L1 EXOSC2 Homo sapiens Q13868
TAP
20531386
Intra
DIS3 Q9Y2L1 EXOSC10 Homo sapiens Q01780 20531386
Intra
DIS3 Q9Y2L1 EXOSC10 Homo sapiens Q01780 21255825
Intra
DIS3 Q9Y2L1 EXOSC10 Homo sapiens Q01780 23756462
Intra
DIS3 Q9Y2L1 EXOSC3 Homo sapiens Q9NQT5 21255825
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Plasma Cell Neoplasm
  • Plasma Cell Dyscrasia

  • Paraproteinemias

  • Plasma Cell Tumour

  • Plasmacytic Tumor

  • Multiple Myeloma

  • Plasmacytoma

  • Plasma Cell Tumours

  • Plasma Cells Dyscrasia

Myeloma, Multiple
  • Multiple Myeloma

  • Plasma Cell Myeloma

  • Kahler Disease

  • Myelomatosis

  • Medullary Plasmacytoma

  • Multiple Myeloma, Resistance To

  • Myeloma

  • Plasma Cell Dyscrasia

  • Kahler'S Disease

  • Multiple Myeloma, Susceptibility To

  • Myeloma - Multiple

  • Kahler-Bozzolo Disease

  • Plasma Cell Myelomas

  • MM

  • Plasma Cell Neoplasm

  • Primary Systemic Amyloidosis

  • Primary Amyloidosis

  • Immunoglobulin Deposition Disease

  • Plasmacytic Myeloma

  • Multiple Myelomata

  • Multiple Myeloma Nos

  • Multiple Myeloma Without Mention Of Remission

  • Monostotic Plasma Cell Myeloma

  • Mm - [Multiple Myeloma]

Axenfeld-Rieger Syndrome, Type 2
  • Axenfeld-Rieger Syndrome Type 2

  • RIEG2

  • Rieger Syndrome, Type 2

  • Rieger Syndrome Type 2

  • Rieger Syndrome 2

Perlman Syndrome
  • Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor

  • PRLMNS

  • Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism

  • Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor

  • Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor

  • Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor

  • Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism

  • Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome

  • Renal Hamartomas Nephroblastomatosis And Fetal Gigantism

  • Nephroblastoma

  • Fetal Macrosomia

Pontocerebellar Hypoplasia, Type 1b
  • Pontocerebellar Hypoplasia Type 1b

  • PCH1B

  • Pontocerebellar Hypoplasia 1b

  • Hypoplasia, Pontocerebellar, Type 1b

Monoclonal Gammopathy Of Uncertain Significance
  • Monoclonal Gammopathy Of Undetermined Significance

  • Mgus

  • Mgus - [Monoclonal Gammopathy Of Undetermined Significance]

  • Monoclonal Gammopathy Nos

  • Iga Gammopathy

  • Monoclonal Gammoglobulinopathy

Trichohepatoenteric Syndrome 1
  • Trichohepatoenteric Syndrome

  • Syndromic Diarrhea

  • Tricho-Hepato-Enteric Syndrome

  • Sd/The

  • Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

  • THES1

  • Phenotypic Diarrhea

  • Thes

  • Phenotypic Diarrhea Of Infancy

  • Diarrhea, Syndromic

  • Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

  • Intractable Diarrhea With Phenotypic Anomalies

  • Syndromatic Diarrhea

  • Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Smoldering Myeloma
Blood Protein Disease
  • Blood Protein Disorders

  • Blood Protein Disorder

Colon Leiomyoma
  • Colonic Leiomyoma

Plasma Cell Leukemia
  • Plasma Cell Leukaemia

  • Leukemia, Plasma Cell

  • Plasmacytic Leukaemia

  • Plasmacytic Leukemia

  • Pcl

  • Plasma Cell Leukaemia, Nos

  • Leukemic Plasma Cell

  • Plasma Cell Leukaemia Without Mention Of Remission

Pontocerebellar Hypoplasia, Type 1e
  • Pontocerebellar Hypoplasia Type 1

  • PCH1E

  • Norman Disease

  • Pch1

  • Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

  • Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

  • Pontocerebellar Hypoplasia Type 1e

  • Pontocerebellar Hypoplasia 1e

  • Doid:0112322

  • Doid:0112330

Nodular Malignant Melanoma
  • Nodular Melanoma

Pontocerebellar Hypoplasia
  • Pch

  • Congenital Pontocerebellar Hypoplasia

  • Opch

  • Hypoplasia, Pontocerebellar

  • Pontoneocerebellar Hypoplasia

  • Nonsyndromic Pontocerebellar Hypoplasia

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DIS3 RGD RGD:1304646
Canis familiaris DIS3 VGNC VGNC:39962
Mus musculus DIS3 MGD MGI:1919912
Bos taurus DIS3 VGNC VGNC:28072
Felis catus DIS3 VGNC VGNC:61499
Macaca mulatta DIS3 VGNC VGNC:71687