InnateDB Protein
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IDBP-237319.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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EXOSC3
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Protein Name
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exosome component 3
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000379775
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InnateDB Gene
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IDBG-66000 (EXOSC3)
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Protein Structure
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Function |
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. {ECO:0000269PubMed:11782436, ECO:0000269PubMed:17545563, ECO:0000269PubMed:19056938, ECO:0000269PubMed:21255825}.
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Subcellular Localization |
Cytoplasm. Nucleus, nucleolus. Nucleus.
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Disease Associations |
Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]: A 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. {ECO:0000269PubMed:22544365}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
45
[view]
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Protein-Protein |
45
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NQT5
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PhosphoSite |
PhosphoSite-Q9NQT5
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TrEMBL |
Q9NYS3
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UniProt Splice Variant |
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Entrez Gene |
51010
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UniGene |
Hs.713483
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RefSeq |
NP_001002269
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HUGO |
HGNC:17944
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OMIM |
606489
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CCDS |
CCDS43805
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HPRD |
16220
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IMGT |
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EMBL |
AF151860
AF229833
AF281132
AK289571
AK290864
AL138752
BC002437
BC008880
CH471071
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GenPept |
AAD34097
AAF42918
AAF82133
AAH02437
AAH08880
BAF82260
BAF83553
CAI13880
EAW58264
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