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    EXOSC7 exosome component 7 [ Homo sapiens (human) ]

    Gene ID: 23016, updated on 28-Oct-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, Oct 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 11.2), skin (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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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)

    Genotypes

    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

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

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