2. Gene
  3. EXOSC5 - exosome component 5 Gene

EXOSC5 - exosome component 5 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as p12B; CABAC; RRP46; RRP41B; Rrp46p; hRrp46p

Gene ID: 56915 | Gene type: protein coding

About EXOSC5

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:41,386,374-41,397,359 (from NCBI)

This gene has 6 transcripts (splice variants), 187 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 8.8), ovary (RPKM 8.2) and 25 other tissues.

Summary

Predicted to enable RNA binding activity. Involved in DNA deamination and exonucleolytic catabolism of deadenylated mRNA. Acts upstream of or within defense response to virus. Located in nucleolus; nucleoplasm; and transcriptionally active chromatin. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022]

EXOSC5 Products(1)

mRNA Protein Name
NM_020158.4 NP_064543.3 exosome complex component RRP46
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
NOT enables RNA exonuclease activity IDA
IDA: Inferred from direct assay
17174896 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11812149 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA deamination IDA
IDA: Inferred from direct assay
21255825 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
acts upstream of or within defense response to virus IMP
IMP: Inferred from mutant phenotype
21791617 GOA
involved in mRNA catabolic process IMP
IMP: Inferred from mutant phenotype
11782436 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytosol IDA
IDA: Inferred from direct assay
20531386 GOA
located in euchromatin IMP
IMP: Inferred from mutant phenotype
20699273 GOA
part of exosome (RNase complex) IDA
IDA: Inferred from direct assay
20531389 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
20531386 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

EXOSC5 Protein Structure

RNase_PH

RNase_PH: 3' exoribonuclease family, domain 1 (28 - 147)

RNase_PH_C

RNase_PH_C: 3' exoribonuclease family, domain 2 (151 - 215)

  • 0
  • 100
  • 200
  • 235 a.a.
Protein Preferred Names Protein Names

exosome complex component RRP46

chronic myelogenous leukemia tumor antigen 28

Related Diseases

Diseases Alias
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects

CABAC
Cerebellar Hypoplasia
Pontocerebellar Hypoplasia, Type 1c

PCH1C

Hypomyelination With Spinal Muscular Atrophy And Cerebellar Hypoplasia

Pontocerebellar Hypoplasia Type 1c

Pontocerebellar Hypoplasia 1c

Doid:0112334

Hypoplasia, Pontocerebellar, Type 1c
Cat-Scratch Disease

Cat Scratch Disease

Benign Lymphoreticulosis

Cat Scratch Fever

Debre'S Syndrome

Bartonellosis Due To Bartonella Henselae Infection

Debre-Mollaret Syndrome

Foshay-Mollaret Cat Scratch Fever

Oroya Fever

Cat-Scratch Fever

Benign Inoculation Lymphoreticulosis

Catscratch Disease Or Fever

Csd - [Cat Scratch Disease]

Nonbacterial Regional Lymphadenitis

Rochalimaea Henselae Infection
Pontocerebellar Hypoplasia, Type 1b

Pontocerebellar Hypoplasia Type 1b

PCH1B

Pontocerebellar Hypoplasia 1b

Hypoplasia, Pontocerebellar, Type 1b
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
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
Bartonellosis

Bartonella Infections

Bartonella Infectious Disease

Bartonelliasis

Rochalimaea Infection

Bartonellosis, Unspecified
Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04601 EXOSC5 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus EXOSC5 VGNC VGNC:28660
Rattus norvegicus EXOSC5 RGD RGD:1307861
Canis familiaris EXOSC5 VGNC VGNC:40526
Macaca mulatta EXOSC5 VGNC VGNC:72331
Mus musculus EXOSC5 MGD MGI:107889
Others EXOSC5 NCBI