U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

EXOSC4 exosome component 4 [ Homo sapiens (human) ]

Gene ID: 54512, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
EXOSC4provided by HGNC
Official Full Name
exosome component 4provided by HGNC
Primary source
HGNC:HGNC:18189
See related
Ensembl:ENSG00000178896 MIM:606491; AllianceGenome:HGNC:18189
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SKI6; p12A; RRP41; Ski6p; RRP41A; Rrp41p; hRrp41p
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]
Expression
Broad expression in testis (RPKM 19.8), kidney (RPKM 7.7) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See EXOSC4 in Genome Data Viewer
Location:
8q24.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144064056..144080648)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145239523..145241499)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145133575..145135551)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145106761-145107658 Neighboring gene 5-oxoprolinase, ATP-hydrolysing Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:145115803-145116323 Neighboring gene microRNA 6846 Neighboring gene uncharacterized LOC124902038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19654 Neighboring gene microRNA 6847 Neighboring gene glycosylphosphatidylinositol anchor attachment 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145144930-145145430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145145431-145145931 Neighboring gene Sharpr-MPRA regulatory region 12380 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145150053-145150248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28088 Neighboring gene cytochrome c1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. EXOSC4 functions as a potential oncogene in development and progression of colorectal cancer. Pan Y, et al. Mol Carcinog, 2018 Dec. PMID 30155936
  2. RNA Exosome Component EXOSC4 Amplified in Multiple Cancer Types Is Required for the Cancer Cell Survival. Taniue K, et al. Int J Mol Sci, 2022 Jan 2. PMID 35008922, Free PMC Article
  3. Sequence-specific RNA binding mediated by the RNase PH domain of components of the exosome. Anderson JR, et al. RNA, 2006 Oct. PMID 16912217, Free PMC Article
  4. Osteopetrosis-Associated Transmembrane Protein 1 Recruits RNA Exosome To Restrict Hepatitis B Virus Replication. Ma C, et al. J Virol, 2020 May 18. PMID 32188736, Free PMC Article
  5. A link between nuclear RNA surveillance, the human exosome and RNA polymerase II transcriptional termination. de Almeida SF, et al. Nucleic Acids Res, 2010 Dec. PMID 20699273, Free PMC Article

See all (100) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RNA Exosome Component EXOSC4 Amplified in Multiple Cancer Types Is Required for the Cancer Cell Survival.
    Title: RNA Exosome Component EXOSC4 Amplified in Multiple Cancer Types Is Required for the Cancer Cell Survival.
  2. Findings show that EXOSC4 is highly expressed in colorectal cancer (CRC) tumors and cell lines and demonstrate its oncogenic role in development and progression of CRC.
    Title: EXOSC4 functions as a potential oncogene in development and progression of colorectal cancer.
  3. Knock-down of hRrp41p or hRrp4p but not PM/Scl-100 or PM/Scl-75 leads to codepletion of other subunits.
    Title: Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways.
  4. Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.
    Title: Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ20591

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3'-5'-RNA exonuclease activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT enables RNA exonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables mRNA 3'-UTR AU-rich region binding 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 DNA deamination IDA
Inferred from Direct Assay
more info
 PubMed 
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 U4 snRNA 3'-end processing IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within defense response to virus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in histone mRNA catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in maturation of 5.8S rRNA IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nuclear mRNA surveillance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nuclear mRNA surveillance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nuclear-transcribed mRNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nuclear-transcribed mRNA catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in poly(A)-dependent snoRNA 3'-end processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in rRNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in rRNA processing NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
part_of cytoplasmic exosome (RNase complex) IBA
Inferred from Biological aspect of Ancestor
more info
  
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 cytosol TAS
Traceable Author Statement
more info
  
part_of euchromatin IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of exosome (RNase complex) IDA
Inferred from Direct Assay
more info
 PubMed 
part_of exosome (RNase complex) NAS
Non-traceable Author Statement
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
part_of nuclear exosome (RNase complex) IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of nuclear exosome (RNase complex) NAS
Non-traceable Author Statement
more info
 PubMed 
part_of nucleolar exosome (RNase complex) NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus NAS
Non-traceable Author Statement
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
exosome complex component RRP41
Names
exosome complex exonuclease RRP41
exosome component Rrp41
ribosomal RNA-processing protein 41

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_019037.3 → NP_061910.1  exosome complex component RRP41

    See identical proteins and their annotated locations for NP_061910.1

    Status: VALIDATED

    Source sequence(s)
    AK000598, BC002777, BM839994
    Consensus CDS
    CCDS6414.1
    UniProtKB/Swiss-Prot
    Q9NPD3
    Related
    ENSP00000315476.4, ENST00000316052.6
    Conserved Domains (1) summary
    cd11370
    Location:11 → 237
    RNase_PH_RRP41; RRP41 subunit of eukaryotic exosome

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    144064056..144080648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517134.4 → XP_011515436.1  exosome complex component RRP41 isoform X1

    Conserved Domains (1) summary
    cl03114
    Location:1 → 139
    RNase_PH; RNase PH-like 3'-5' exoribonucleases

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    145239523..145241499
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NPD3.3 GenPept UniProtKB/Swiss-Prot:Q9NPD3

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous