EXOSC7 exosome component 7 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000003.12 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

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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 EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S2978 (e-PCR)
- UniSTS:42254

G20351 (e-PCR)
- UniSTS:50714

A005N25 (e-PCR)
- UniSTS:50715

RH25340 (e-PCR)
- UniSTS:45958

WI-22458 (e-PCR)
- UniSTS:24970

D3S4208 (e-PCR)
- UniSTS:15826

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

EC 3.1.13.-

XP_016861419.1

EC 3.1.13.-

XP_047303704.1

EC 3.1.13.-

XP_047303705.1

EC 3.1.13.-

XP_054201727.1

EC 3.1.13.-

XP_054201728.1

EC 3.1.13.-

XP_054201729.1

EC 3.1.13.-

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_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

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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

44976244..45012668

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q15024, Q96E72

Related

ENST00000491476.5
XM_047447749.1 → XP_047303705.1 exosome complex component RRP42 isoform X2
XM_017005930.3 → XP_016861419.1 exosome complex component RRP42 isoform X2

Related

ENST00000468667.5

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

44991986..45028405

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q15024, Q96E72
XM_054345754.1 → XP_054201729.1 exosome complex component RRP42 isoform X2
XM_054345753.1 → XP_054201728.1 exosome complex component RRP42 isoform X2