InnateDB Protein
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IDBP-748865.3
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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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THOC6
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Protein Name
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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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ENSP00000460015
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InnateDB Gene
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IDBG-11385 (THOC6)
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Protein Structure
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Function |
Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Plays a role in apoptosis negative control involved in brain development. {ECO:0000269PubMed:15833825, ECO:0000269PubMed:15998806, ECO:0000269PubMed:17190602, ECO:0000269PubMed:18974867, ECO:0000269PubMed:23621916}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:23621916}. Nucleus speckle {ECO:0000305PubMed:23621916}.
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Disease Associations |
Beaulieu-Boycott-Innes syndrome (BBIS) [MIM:613680]: An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur. {ECO:0000269PubMed:23621916}. 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 46 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
46
[view]
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Protein-Protein |
45
[view]
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Protein-DNA |
1
[view]
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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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Predicted by orthology |
Total |
1 [view]
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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 |
IPR001680
WD40 repeat
IPR017986
WD40-repeat-containing domain
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PFAM |
PF00400
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PRINTS |
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PIRSF |
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SMART |
SM00320
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TIGRFAMs |
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Modification |
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SwissProt |
Q86W42
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PhosphoSite |
PhosphoSite-Q86W42
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
79228
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UniGene |
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RefSeq |
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HUGO |
HGNC:28369
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OMIM |
615403
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CCDS |
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HPRD |
14504
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IMGT |
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EMBL |
AK075330
AK314086
BC003118
BC050674
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GenPept |
AAH03118
AAH50674
BAC11552
BAG36782
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