Exosc3 exosome component 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Exosc3provided by MGI
Official Full Name: exosome component 3provided by MGI
Primary source: MGI:MGI:1913612
See related: Ensembl:ENSMUSG00000028322 AllianceGenome:MGI:1913612
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rrp40; 2310005D06Rik
Summary: Predicted to enable RNA binding activity. Involved in isotype switching. Acts upstream of or within positive regulation of isotype switching. Predicted to be located in cytosol; euchromatin; and nuclear lumen. Predicted to be part of cytoplasmic exosome (RNase complex) and nuclear exosome (RNase complex). Is expressed in several structures, including cerebral cortex; gonad; liver; metanephros; and muscle tissue. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 1B. Orthologous to human EXOSC3 (exosome component 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 24.3), liver E14 (RPKM 19.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 B1; 4 23.84 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (45316613..45320616, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (45316613..45320616, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EXOSC3 mutations account for 30%-40% of patients with PCH1 with variability in survival and clinical severity that is correlated with the genotype.
Title: Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables exonuclease activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in CUT catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in CUT catabolic process	IEA Inferred from Electronic Annotation more info
involved_in CUT catabolic process	ISO Inferred from Sequence Orthology more info
involved_in DNA deamination	IEA Inferred from Electronic Annotation more info
involved_in DNA deamination	ISO Inferred from Sequence Orthology more info
involved_in RNA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in RNA processing	ISO Inferred from Sequence Orthology more info
involved_in TRAMP-dependent tRNA surveillance pathway	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 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 isotype switching	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA catabolic process	IEA Inferred from Electronic Annotation more info
involved_in mRNA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in nuclear polyadenylation-dependent rRNA catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear-transcribed mRNA catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in poly(A)-dependent snoRNA 3'-end processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of isotype switching	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info
involved_in rRNA processing	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
part_of cytoplasmic exosome (RNase complex)	IBA Inferred from Biological aspect of Ancestor more info
part_of cytoplasmic exosome (RNase complex)	ISO Inferred from Sequence Orthology more info
part_of cytoplasmic exosome (RNase complex)	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in euchromatin	IEA Inferred from Electronic Annotation more info
located_in euchromatin	ISO Inferred from Sequence Orthology more info
part_of exosome (RNase complex)	ISO Inferred from Sequence Orthology more info
part_of exosome (RNase complex)	ISS Inferred from Sequence or Structural Similarity more info
part_of exosome (RNase complex)	NAS Non-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)	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: exosome complex component RRP40

Names: exosome complex exonuclease RRP40; ribosomal RNA-processing protein 40

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)

NM_001362788.1 → NP_001349717.1 exosome complex component RRP40 isoform 2

Status: VALIDATED

Source sequence(s)

AL772285

Conserved Domains (2) summary

cd05790
Location:22 → 107

S1_Rrp40; Rrp40 S1-like RNA-binding domain. S1-like RNA-binding domains are found in a wide variety of RNA-associated proteins. Rrp4 protein is a subunit of the exosome complex. The exosome plays a central role in 3' to 5' RNA processing and degradation in ...

pfam15985
Location:111 → 157

KH_6; KH domain
NM_025513.4 → NP_079789.1 exosome complex component RRP40 isoform 1

See identical proteins and their annotated locations for NP_079789.1

Status: VALIDATED

Source sequence(s)

AL772285

Consensus CDS

CCDS18136.1

UniProtKB/Swiss-Prot

Q7TQK4, Q9CV81, Q9CVW2

UniProtKB/TrEMBL

A0A1S6GWI6

Related

ENSMUSP00000030003.4, ENSMUST00000030003.10

Conserved Domains (2) summary

cd05790
Location:107 → 192

S1_Rrp40; S1_Rrp40: Rrp40 S1-like RNA-binding domain. S1-like RNA-binding domains are found in a wide variety of RNA-associated proteins. Rrp4 protein is a subunit of the exosome complex. The exosome plays a central role in 3' to 5' RNA processing and degradation ...

pfam15985
Location:196 → 242

KH_6; KH domain