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EXOSC9 exosome component 9 [ Homo sapiens (human) ]

Gene ID: 5393, updated on 9-Feb-2020

Summary

Official Symbol
EXOSC9provided by HGNC
Official Full Name
exosome component 9provided by HGNC
Primary source
HGNC:HGNC:9137
See related
Ensembl:ENSG00000123737 MIM:606180
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p5; p6; PCH1D; RRP45; PMSCL1; Rrp45p; PM/Scl-75
Summary
This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Expression
Broad expression in testis (RPKM 24.9), bone marrow (RPKM 19.1) and 24 other tissues See more
Orthologs

Genomic context

See EXOSC9 in Genome Data Viewer
Location:
4q27
Exon count:
14
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (121801323..121817021)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (122722445..122738176)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene annexin A5 Neighboring gene transmembrane protein 155 Neighboring gene uncharacterized LOC100192379 Neighboring gene cyclin A2 Neighboring gene Bardet-Biedl syndrome 7 Neighboring gene transient receptor potential cation channel subfamily C member 3 Neighboring gene uncharacterized LOC102724158

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

  • Homologs of the EXOSC9 gene: The EXOSC9 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
  • Orthologs from Annotation Pipeline: 308 organisms have orthologs with human gene EXOSC9

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3'-5'-exoribonuclease activity NAS
Non-traceable Author Statement
more info
PubMed 
RNA binding HDA PubMed 
RNA binding NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II activating transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
NOT exoribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
mRNA 3'-UTR AU-rich region binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
U1 snRNA 3'-end processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
U4 snRNA 3'-end processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
U5 snRNA 3'-end processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay IMP
Inferred from Mutant Phenotype
more info
PubMed 
exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay TAS
Traceable Author Statement
more info
 
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
PubMed 
immune response NAS
Non-traceable Author Statement
more info
PubMed 
nuclear mRNA surveillance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear mRNA surveillance IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear polyadenylation-dependent mRNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear polyadenylation-dependent rRNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear polyadenylation-dependent rRNA catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear polyadenylation-dependent tRNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear-transcribed mRNA catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
rRNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
rRNA processing NAS
Non-traceable Author Statement
more info
PubMed 
rRNA processing TAS
Traceable Author Statement
more info
 
regulation of mRNA stability TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic exosome (RNase complex) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
exosome (RNase complex) IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear exosome (RNase complex) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear exosome (RNase complex) IDA
Inferred from Direct Assay
more info
PubMed 
nuclear exosome (RNase complex) NAS
Non-traceable Author Statement
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
exosome complex component RRP45
Names
P75 polymyositis-scleroderma overlap syndrome associated autoantigen
PMSCL autoantigen, 75kD
autoantigen PM/Scl 1
exosome complex exonuclease RRP45
polymyositis/scleroderma autoantigen 1, 75kDa
NP_001029366.1
NP_005024.2
XP_011530337.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029848.1 RefSeqGene

    Range
    5007..20705
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001034194.2NP_001029366.1  exosome complex component RRP45 isoform 1

    See identical proteins and their annotated locations for NP_001029366.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AJ517294, BU615347
    Consensus CDS
    CCDS34057.1
    UniProtKB/Swiss-Prot
    Q06265
    Related
    ENSP00000368984.3, ENST00000379663.7
    Conserved Domains (2) summary
    cd11368
    Location:6264
    RNase_PH_RRP45; RRP45 subunit of eukaryotic exosome
    COG2123
    Location:10271
    Rrp42; Exosome complex RNA-binding protein Rrp42, RNase PH superfamily [Translation, ribosomal structure and biogenesis]
  2. NM_005033.3NP_005024.2  exosome complex component RRP45 isoform 2

    See identical proteins and their annotated locations for NP_005024.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC079341
    Consensus CDS
    CCDS3722.2
    UniProtKB/Swiss-Prot
    Q06265
    Related
    ENSP00000243498.5, ENST00000243498.9
    Conserved Domains (2) summary
    cd11368
    Location:6264
    RNase_PH_RRP45; RRP45 subunit of eukaryotic exosome
    COG2123
    Location:10271
    Rrp42; Exosome complex RNA-binding protein Rrp42, RNase PH superfamily [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    121801323..121817021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532035.3XP_011530337.1  exosome complex component RRP45 isoform X1

    See identical proteins and their annotated locations for XP_011530337.1

    UniProtKB/TrEMBL
    B4DXG8
    Conserved Domains (2) summary
    cd11368
    Location:6264
    RNase_PH_RRP45; RRP45 subunit of eukaryotic exosome
    COG2123
    Location:10271
    Rrp42; Exosome complex RNA-binding protein Rrp42, RNase PH superfamily [Translation, ribosomal structure and biogenesis]

RNA

  1. XR_001741241.2 RNA Sequence

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