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EXOSC7 exosome component 7 [ Homo sapiens (human) ]

Gene ID: 23016, updated on 2-Nov-2024

Summary

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Official Symbol
EXOSC7provided by HGNC
Official Full Name
exosome component 7provided by HGNC
Primary source
HGNC:HGNC:28112
See related
Ensembl:ENSG00000075914 MIM:606488; AllianceGenome:HGNC:28112
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
p8; EAP1; RRP42; Rrp42p; hRrp42p
Summary
Predicted to enable mRNA 3'-UTR AU-rich region binding activity. Involved in RNA catabolic process and RNA processing. Part of cytosol; exosome (RNase complex); and nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in adrenal (RPKM 11.2), skin (RPKM 10.6) and 25 other tissues See more
Orthologs
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Genomic context

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See EXOSC7 in Genome Data Viewer
Location:
3p21.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (44976244..45012668)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (44991986..45028405)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (45017736..45054160)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:44925386-44926063 Neighboring gene Sharpr-MPRA regulatory region 3821 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:44940040-44940581 Neighboring gene transglutaminase 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:44975255-44976082 Neighboring gene zinc finger DHHC-type palmitoyltransferase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:44981025-44981526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:44981527-44982026 Neighboring gene ribosomal protein L12 pseudogene 44 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:45000471-45001670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:45016646-45017190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45068175-45068676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45068677-45069176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45075939-45076588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:45076589-45077236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14277 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14278 Neighboring gene C-type lectin domain family 3 member B Neighboring gene RNA, U5B small nuclear 3, pseudogene Neighboring gene uncharacterized LOC124906233 Neighboring gene CUB domain containing protein 1

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 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. The yin and yang of the exosome. Butler JS. Trends Cell Biol, 2002 Feb. PMID 11849973
  2. Autoantibodies directed to novel components of the PM/Scl complex, the human exosome. Brouwer R, et al. Arthritis Res, 2002. PMID 11879549, Free PMC Article
  3. Zinc-finger antiviral protein inhibits HIV-1 infection by selectively targeting multiply spliced viral mRNAs for degradation. Zhu Y, et al. Proc Natl Acad Sci U S A, 2011 Sep 20. PMID 21876179, Free PMC Article
  4. The association of the human PM/Scl-75 autoantigen with the exosome is dependent on a newly identified N terminus. Raijmakers R, et al. J Biol Chem, 2003 Aug 15. PMID 12788944
  5. Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication. Moll T, et al. Life Sci Alliance, 2023 Jan. PMID 36241425, Free PMC Article

See all (92) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EXOSC7 gene expression is decreased in both classic and follicular variants of papillary thyroid carcinoma.
    Title: Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma.
  2. The association of hCsl4p with the exosome is mediated by protein-protein interactions with hRrp42p and hRrp46p.
    Title: Protein-protein interactions of hCsl4p with other human exosome subunits.
  3. 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

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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
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
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)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, exosome component 7 (EXOSC7), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ26543, KIAA0116

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3'-5'-RNA exonuclease activity TAS
Traceable Author Statement
more info
 PubMed 
enables RNA binding TAS
Traceable Author Statement
more info
 PubMed 
NOT enables RNA exonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables mRNA 3'-UTR AU-rich region binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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 catabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in RNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in TRAMP-dependent tRNA surveillance pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in U1 snRNA 3'-end processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in U4 snRNA 3'-end processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in U5 snRNA 3'-end processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nuclear mRNA surveillance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nuclear polyadenylation-dependent rRNA 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 processing TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
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 exosome (RNase complex) IDA
Inferred from Direct Assay
more info
 PubMed 
part_of exosome (RNase complex) NAS
Non-traceable Author Statement
more info
 PubMed 
part_of exosome (RNase complex) TAS
Traceable Author Statement
more info
 PubMed 
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 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
exosome complex component RRP42
Names
exosome complex exonuclease RRP42
ribosomal RNA-processing protein 42
NP_055819.2
XP_016861419.1
XP_047303704.1
XP_047303705.1
XP_054201727.1
XP_054201728.1
XP_054201729.1

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.

mRNA and Protein(s)

  1. NM_015004.4 → NP_055819.2  exosome complex component RRP42

    See identical proteins and their annotated locations for NP_055819.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the protein.
    Source sequence(s)
    AC104165, AK315741, BC012831
    Consensus CDS
    CCDS2725.1
    UniProtKB/Swiss-Prot
    Q15024, Q96E72
    UniProtKB/TrEMBL
    B2RDZ9
    Related
    ENSP00000265564.7, ENST00000265564.8
    Conserved Domains (2) summary
    cd11367
    Location:6 → 276
    RNase_PH_RRP42; RRP42 subunit of eukaryotic exosome
    COG2123
    Location:1 → 273
    Rrp42; Exosome complex RNA-binding protein Rrp42, RNase PH superfamily [Translation, ribosomal structure and biogenesis]

RNA

  1. NR_023353.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) omits two coding exons resulting in a frameshift and prematurely truncated open reading frame. The transcript is a candidate for nonsense-mediated decay.
    Source sequence(s)
    AC104165, AK130053, AK315741, BC012831, BU153856

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    44976244..45012668
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447748.1 → XP_047303704.1  exosome complex component RRP42 isoform X1

    UniProtKB/Swiss-Prot
    Q15024, Q96E72
    Related
    ENST00000491476.5

  2. XM_047447749.1 → XP_047303705.1  exosome complex component RRP42 isoform X2

  3. XM_017005930.3 → XP_016861419.1  exosome complex component RRP42 isoform X2

    Related
    ENST00000468667.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    44991986..45028405
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345752.1 → XP_054201727.1  exosome complex component RRP42 isoform X1

    UniProtKB/Swiss-Prot
    Q15024, Q96E72

  2. XM_054345754.1 → XP_054201729.1  exosome complex component RRP42 isoform X2

  3. XM_054345753.1 → XP_054201728.1  exosome complex component RRP42 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15024.3 GenPept UniProtKB/Swiss-Prot:Q15024

Gene LinkOut

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