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Entry version 176 (13 Feb 2019)
Sequence version 3 (23 Jan 2007)
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Protein

Exosome complex component RRP40

Gene

EXOSC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC3 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC9 and EXOSC5.4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • 3'-5'-exoribonuclease activity Source: UniProtKB
  • RNA binding Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionRNA-binding
Biological processrRNA processing

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-380994 ATF4 activates genes
R-HSA-429958 mRNA decay by 3' to 5' exoribonuclease
R-HSA-450385 Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
R-HSA-450513 Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
R-HSA-450604 KSRP (KHSRP) binds and destabilizes mRNA
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Exosome complex component RRP40
Alternative name(s):
Exosome component 3
Ribosomal RNA-processing protein 40
p10
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EXOSC3
Synonyms:RRP40
ORF Names:CGI-102
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000107371.12

Human Gene Nomenclature Database

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HGNCi
HGNC:17944 EXOSC3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606489 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9NQT5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Exosome, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Pontocerebellar hypoplasia 1B (PCH1B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement.
See also OMIM:614678
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06850531G → A in PCH1B. 1 PublicationCorresponds to variant dbSNP:rs387907196EnsemblClinVar.1
Natural variantiVAR_068506132D → A in PCH1B. 1 PublicationCorresponds to variant dbSNP:rs141138948EnsemblClinVar.1
Natural variantiVAR_068507139A → P in PCH1B. 1 PublicationCorresponds to variant dbSNP:rs387907195EnsemblClinVar.1
Natural variantiVAR_068508238W → R in PCH1B. 1 PublicationCorresponds to variant dbSNP:rs672601332EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

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DisGeNETi
51010

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
EXOSC3

MalaCards human disease database

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MalaCardsi
EXOSC3
MIMi614678 phenotype

Open Targets

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OpenTargetsi
ENSG00000107371

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
2254 Pontocerebellar hypoplasia type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134926550

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
EXOSC3

Domain mapping of disease mutations (DMDM)

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DMDMi
14285758

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000871312 – 275Exosome complex component RRP40Add BLAST274

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki151Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NQT5

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NQT5

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NQT5

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9NQT5

PeptideAtlas

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PeptideAtlasi
Q9NQT5

PRoteomics IDEntifications database

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PRIDEi
Q9NQT5

ProteomicsDB human proteome resource

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ProteomicsDBi
82184
82185 [Q9NQT5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9NQT5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NQT5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000107371 Expressed in 192 organ(s), highest expression level in oocyte

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NQT5 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA020485

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the RNA exosome complex. Specifically part of the catalytically inactive RNA exosome core (Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. Exo-9 is formed by a hexameric ring of RNase PH domain-containing subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure. Interacts with GTPBP1. Interacts with ZC3HAV1. Interacts with DDX17 only in the presence of ZC3HAV1 in an RNA-independent manner. Interacts with DHX36; this interaction occurs in a RNase-insensitive manner (PubMed:14731398).6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119217, 35 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-476 Nuclear exosome complex, DIS3-EXOSC10 variant
CPX-591 Nucleolar exosome complex, EXOSC10 variant
CPX-592 Cytoplasmic exosome complex, DIS3L variant
CPX-593 Exosome complex, DIS3 variant
CPX-600 Cytoplasmic exosome complex, DIS3L-EXOSC10 variant

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9NQT5

Database of interacting proteins

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DIPi
DIP-29847N

Protein interaction database and analysis system

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IntActi
Q9NQT5, 27 interactors

Molecular INTeraction database

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MINTi
Q9NQT5

STRING: functional protein association networks

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STRINGi
9606.ENSP00000323046

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1275
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2NN6X-ray3.35G1-275[»]
6D6Qelectron microscopy3.45G1-275[»]
6D6Relectron microscopy3.45G1-275[»]
6H25electron microscopy3.80G1-275[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9NQT5

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9NQT5

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q9NQT5

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RRP40 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1004 Eukaryota
COG1097 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153596

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000012998

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051518

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NQT5

KEGG Orthology (KO)

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KOi
K03681

Identification of Orthologs from Complete Genome Data

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OMAi
ISYLAFE

Database of Orthologous Groups

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OrthoDBi
1097566at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NQT5

TreeFam database of animal gene trees

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TreeFami
TF314927

Family and domain databases

Conserved Domains Database

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CDDi
cd05790 S1_Rrp40, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.1370.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026699 Exosome_RNA_bind1/RRP40/RRP4
IPR004088 KH_dom_type_1
IPR036612 KH_dom_type_1_sf
IPR012340 NA-bd_OB-fold
IPR037319 Rrp40_S1

The PANTHER Classification System

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PANTHERi
PTHR21321 PTHR21321, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF15985 KH_6, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50249 SSF50249, 1 hit
SSF54791 SSF54791, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NQT5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAEPASVAAE SLAGSRARAA RTVLGQVVLP GEELLLPEQE DAEGPGGAVE
60 70 80 90 100
RPLSLNARAC SRVRVVCGPG LRRCGDRLLV TKCGRLRHKE PGSGSGGGVY
110 120 130 140 150
WVDSQQKRYV PVKGDHVIGI VTAKSGDIFK VDVGGSEPAS LSYLSFEGAT
160 170 180 190 200
KRNRPNVQVG DLIYGQFVVA NKDMEPEMVC IDSCGRANGM GVIGQDGLLF
210 220 230 240 250
KVTLGLIRKL LAPDCEIIQE VGKLYPLEIV FGMNGRIWVK AKTIQQTLIL
260 270
ANILEACEHM TSDQRKQIFS RLAES
Length:275
Mass (Da):29,572
Last modified:January 23, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i264322144A199166
GO
Isoform 2 (identifier: Q9NQT5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-275: VGDLIYGQFV...KQIFSRLAES → AISSRL

Note: No experimental confirmation available.
Show »
Length:164
Mass (Da):17,248
Checksum:i51C07B44337D0076
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti56 – 65NARACSRVRV → MLERARGCAF in AAD34097 (PubMed:10810093).Curated10
Sequence conflicti95S → G in AAD34097 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06850531G → A in PCH1B. 1 PublicationCorresponds to variant dbSNP:rs387907196EnsemblClinVar.1
Natural variantiVAR_07416980V → F1 PublicationCorresponds to variant dbSNP:rs374550999EnsemblClinVar.1
Natural variantiVAR_068506132D → A in PCH1B. 1 PublicationCorresponds to variant dbSNP:rs141138948EnsemblClinVar.1
Natural variantiVAR_068507139A → P in PCH1B. 1 PublicationCorresponds to variant dbSNP:rs387907195EnsemblClinVar.1
Natural variantiVAR_054098225Y → H. Corresponds to variant dbSNP:rs3208406EnsemblClinVar.1
Natural variantiVAR_068508238W → R in PCH1B. 1 PublicationCorresponds to variant dbSNP:rs672601332EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_043457159 – 275VGDLI…RLAES → AISSRL in isoform 2. 1 PublicationAdd BLAST117

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF281132 mRNA Translation: AAF82133.1
AK289571 mRNA Translation: BAF82260.1
AK290864 mRNA Translation: BAF83553.1
AL138752 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58264.1
BC002437 mRNA Translation: AAH02437.1
BC008880 mRNA Translation: AAH08880.1
AF151860 mRNA Translation: AAD34097.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS35016.1 [Q9NQT5-1]
CCDS43805.1 [Q9NQT5-2]

NCBI Reference Sequences

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RefSeqi
NP_001002269.1, NM_001002269.2 [Q9NQT5-2]
NP_057126.2, NM_016042.3 [Q9NQT5-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.602571
Hs.713483

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000327304; ENSP00000323046; ENSG00000107371 [Q9NQT5-1]
ENST00000396521; ENSP00000379775; ENSG00000107371 [Q9NQT5-2]
ENST00000465229; ENSP00000418422; ENSG00000107371 [Q9NQT5-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51010

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51010

UCSC genome browser

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UCSCi
uc004aal.4 human [Q9NQT5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF281132 mRNA Translation: AAF82133.1
AK289571 mRNA Translation: BAF82260.1
AK290864 mRNA Translation: BAF83553.1
AL138752 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58264.1
BC002437 mRNA Translation: AAH02437.1
BC008880 mRNA Translation: AAH08880.1
AF151860 mRNA Translation: AAD34097.1
CCDSiCCDS35016.1 [Q9NQT5-1]
CCDS43805.1 [Q9NQT5-2]
RefSeqiNP_001002269.1, NM_001002269.2 [Q9NQT5-2]
NP_057126.2, NM_016042.3 [Q9NQT5-1]
UniGeneiHs.602571
Hs.713483

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2NN6X-ray3.35G1-275[»]
6D6Qelectron microscopy3.45G1-275[»]
6D6Relectron microscopy3.45G1-275[»]
6H25electron microscopy3.80G1-275[»]
ProteinModelPortaliQ9NQT5
SMRiQ9NQT5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119217, 35 interactors
ComplexPortaliCPX-476 Nuclear exosome complex, DIS3-EXOSC10 variant
CPX-591 Nucleolar exosome complex, EXOSC10 variant
CPX-592 Cytoplasmic exosome complex, DIS3L variant
CPX-593 Exosome complex, DIS3 variant
CPX-600 Cytoplasmic exosome complex, DIS3L-EXOSC10 variant
CORUMiQ9NQT5
DIPiDIP-29847N
IntActiQ9NQT5, 27 interactors
MINTiQ9NQT5
STRINGi9606.ENSP00000323046

PTM databases

iPTMnetiQ9NQT5
PhosphoSitePlusiQ9NQT5

Polymorphism and mutation databases

BioMutaiEXOSC3
DMDMi14285758

Proteomic databases

EPDiQ9NQT5
jPOSTiQ9NQT5
MaxQBiQ9NQT5
PaxDbiQ9NQT5
PeptideAtlasiQ9NQT5
PRIDEiQ9NQT5
ProteomicsDBi82184
82185 [Q9NQT5-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
51010
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000327304; ENSP00000323046; ENSG00000107371 [Q9NQT5-1]
ENST00000396521; ENSP00000379775; ENSG00000107371 [Q9NQT5-2]
ENST00000465229; ENSP00000418422; ENSG00000107371 [Q9NQT5-2]
GeneIDi51010
KEGGihsa:51010
UCSCiuc004aal.4 human [Q9NQT5-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51010
DisGeNETi51010
EuPathDBiHostDB:ENSG00000107371.12

GeneCards: human genes, protein and diseases

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GeneCardsi
EXOSC3
GeneReviewsiEXOSC3
HGNCiHGNC:17944 EXOSC3
HPAiHPA020485
MalaCardsiEXOSC3
MIMi606489 gene
614678 phenotype
neXtProtiNX_Q9NQT5
OpenTargetsiENSG00000107371
Orphaneti2254 Pontocerebellar hypoplasia type 1
PharmGKBiPA134926550

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1004 Eukaryota
COG1097 LUCA
GeneTreeiENSGT00940000153596
HOGENOMiHOG000012998
HOVERGENiHBG051518
InParanoidiQ9NQT5
KOiK03681
OMAiISYLAFE
OrthoDBi1097566at2759
PhylomeDBiQ9NQT5
TreeFamiTF314927

Enzyme and pathway databases

ReactomeiR-HSA-380994 ATF4 activates genes
R-HSA-429958 mRNA decay by 3' to 5' exoribonuclease
R-HSA-450385 Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
R-HSA-450513 Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
R-HSA-450604 KSRP (KHSRP) binds and destabilizes mRNA
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
EXOSC3 human
EvolutionaryTraceiQ9NQT5

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Exosome_component_3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
51010

Protein Ontology

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PROi
PR:Q9NQT5

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000107371 Expressed in 192 organ(s), highest expression level in oocyte
GenevisibleiQ9NQT5 HS

Family and domain databases

CDDicd05790 S1_Rrp40, 1 hit
Gene3Di3.30.1370.10, 1 hit
InterProiView protein in InterPro
IPR026699 Exosome_RNA_bind1/RRP40/RRP4
IPR004088 KH_dom_type_1
IPR036612 KH_dom_type_1_sf
IPR012340 NA-bd_OB-fold
IPR037319 Rrp40_S1
PANTHERiPTHR21321 PTHR21321, 1 hit
PfamiView protein in Pfam
PF15985 KH_6, 1 hit
SUPFAMiSSF50249 SSF50249, 1 hit
SSF54791 SSF54791, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEXOS3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NQT5
Secondary accession number(s): A8K0K6, Q5QP85, Q9Y3A8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: January 23, 2007
Last modified: February 13, 2019
This is version 176 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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