EXOSC4 - exosome component 4 Gene

Also Known as SKI6; p12A; RRP41; Ski6p; RRP41A; Rrp41p; hRrp41p

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54512

About EXOSC4

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,064,056-144,080,648 (from NCBI)

This gene has 3 transcripts (splice variants), 184 orthologues and 2 paralogues. Broad expression in testis (RPKM 19.8), kidney (RPKM 7.7) and 25 other tissues.

Summary

Enables mRNA 3'-UTR AU-rich region binding activity. Involved in nucleic acid metabolic process and positive regulation of cell growth. Acts upstream of or within defense response to virus. Located in cytosol; nucleoplasm; and transcriptionally active chromatin. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022]

EXOSC4 Products (1)

mRNA Protein Name
NM_019037.3 NP_061910.1 exosome complex component RRP41
Molecular Function GO Annotation Evidence Verweise Source
NOT enables RNA exonuclease activity IDA
IDA: Inferred from direct assay
17174896 GOA
enables mRNA 3'-UTR AU-rich region binding IDA
IDA: Inferred from direct assay
16912217 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11719186 GOA
Biological Process GO Annotation Evidence Verweise 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 histone mRNA catabolic process IMP
IMP: Inferred from mutant phenotype
18172165 GOA
involved in maturation of 5.8S rRNA IMP
IMP: Inferred from mutant phenotype
20368444 GOA
involved in nuclear mRNA surveillance IMP
IMP: Inferred from mutant phenotype
17545563 GOA
involved in nuclear-transcribed mRNA catabolic process IMP
IMP: Inferred from mutant phenotype
17545563 GOA
involved in positive regulation of cell growth IMP
IMP: Inferred from mutant phenotype
17545563 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in cytoplasm IDA
IDA: Inferred from direct assay
17545563 GOA
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
17545563 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

EXOSC4 Protein Structure

RNase_PH

RNase_PH: 3' exoribonuclease family, domain 1 (21 - 152)

RNase_PH_C

RNase_PH_C: 3' exoribonuclease family, domain 2 (155 - 219)

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

exosome complex component RRP41

  • exosome complex exonuclease RRP41

EXOSC4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
EXOSC4 Q9NPD3 EXOSC2 Homo sapiens Q13868
TAP
24981860
Intra
EXOSC4 Q9NPD3 EXOSC2 Homo sapiens Q13868 26496610
Intra
EXOSC4 Q9NPD3 EXOSC2 Homo sapiens Q13868 33961781
Intra
EXOSC4 Q9NPD3 EXOSC2 Homo sapiens Q13868
Y2H
12419256
Intra
EXOSC4 Q9NPD3 EXOSC2 Homo sapiens Q13868 20531386
Intra
EXOSC4 Q9NPD3 EXOSC9 Homo sapiens Q06265 30021884
Intra
EXOSC4 Q9NPD3 EXOSC9 Homo sapiens Q06265 33961781
Intra
EXOSC4 Q9NPD3 EXOSC9 Homo sapiens Q06265 26496610
Intra
EXOSC4 Q9NPD3 EXOSC9 Homo sapiens Q06265
Y2H
15231747
Intra
EXOSC4 Q9NPD3 EXOSC9 Homo sapiens Q06265 20531386
Intra
EXOSC4 Q9NPD3 EXOSC9 Homo sapiens Q06265
TAP
24981860
Intra
EXOSC4 Q9NPD3 EXOSC10 Homo sapiens Q01780 26496610
Intra
EXOSC4 Q9NPD3 EXOSC10 Homo sapiens Q01780 33961781
Intra
EXOSC4 Q9NPD3 EXOSC10 Homo sapiens Q01780
Y2H
15231747
Intra
EXOSC4 Q9NPD3 EXOSC10 Homo sapiens Q01780 20531386
Intra
EXOSC4 Q9NPD3 EXOSC10 Homo sapiens Q01780
TAP
24981860
Intra
EXOSC4 Q9NPD3 EXOSC10 Homo sapiens Q01780 21255825
Intra
EXOSC4 Q9NPD3 EXOSC7 Homo sapiens Q15024 20531386
Intra
EXOSC4 Q9NPD3 EXOSC7 Homo sapiens Q15024 33961781
Intra
EXOSC4 Q9NPD3 EXOSC7 Homo sapiens Q15024 26496610
Intra
EXOSC4 Q9NPD3 EXOSC7 Homo sapiens Q15024
TAP
24981860
Intra
EXOSC4 Q9NPD3 EXOSC7 Homo sapiens Q15024 25416956
Intra
EXOSC4 Q9NPD3 EXOSC3 Homo sapiens Q9NQT5 20531386
Intra
EXOSC4 Q9NPD3 EXOSC3 Homo sapiens Q9NQT5 21255825
Intra
EXOSC4 Q9NPD3 EXOSC3 Homo sapiens Q9NQT5
TAP
24981860
Intra
EXOSC4 Q9NPD3 EXOSC3 Homo sapiens Q9NQT5 26496610
Intra
EXOSC4 Q9NPD3 EXOSC3 Homo sapiens Q9NQT5 33961781
Intra
EXOSC4 Q9NPD3 EXOSC3 Homo sapiens Q9NQT5
Y2H
15231747
Intra
EXOSC4 Q9NPD3 EXOSC1 Homo sapiens Q9Y3B2 20531386
Intra
EXOSC4 Q9NPD3 EXOSC1 Homo sapiens Q9Y3B2
TAP
24981860
Intra
EXOSC4 Q9NPD3 EXOSC1 Homo sapiens Q9Y3B2 26496610
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Heel Spur
  • Calcaneal Spur

Lipodystrophy, Familial Partial, Type 3
  • FPLD3

  • Pparg-Related Familial Partial Lipodystrophy

  • Familial Partial Lipodystrophy Type 3

  • Familial Partial Lipodystrophy Associated With Pparg Mutations

  • Pparg-Related Fpld

  • Lipodystrophy, Familial Partial, Associated With Pparg Mutations

  • Insulin Resistance, Severe, Digenic

  • Lipodystrophy, Familial Partial, 3

  • Familial Partial Lipodystrophy, Type 3

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

  • PCH1B

  • Pontocerebellar Hypoplasia 1b

  • Hypoplasia, Pontocerebellar, Type 1b

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

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

Pontocerebellar Hypoplasia
  • Pch

  • Congenital Pontocerebellar Hypoplasia

  • Opch

  • Hypoplasia, Pontocerebellar

  • Pontoneocerebellar Hypoplasia

  • Nonsyndromic Pontocerebellar Hypoplasia

Maturity-Onset Diabetes Of The Young
  • MODY

  • Maturity Onset Diabetes Mellitus In Young

  • Mason-Type Diabetes

  • Mason Type Diabetes

  • Maturity Onset Diabetes Of The Young

  • Mody Syndrome

  • Diabetes Of The Young, Maturity-Onset

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
Felis catus EXOSC4 VGNC VGNC:81652
Macaca mulatta EXOSC4 VGNC VGNC:72294
Bos taurus EXOSC4 VGNC VGNC:28659
Mus musculus EXOSC4 MGD MGI:1923576
Canis familiaris EXOSC4 VGNC VGNC:40525
Rattus norvegicus EXOSC4 RGD RGD:1310986
Others EXOSC4 NCBI