Homo sapiens Protein: THOC6
Summary
InnateDB Protein IDBP-748865.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol THOC6
Protein Name
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000460015
InnateDB Gene IDBG-11385 (THOC6)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Nucleus {ECO:0000269PubMed:23621916}. Nucleus speckle {ECO:0000305PubMed:23621916}.
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.
Tissue Specificity
Comments
Interactions
Number of Interactions 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]
Protein-Protein 45 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0005515 protein binding
Biological Process
GO:0006397 mRNA processing
GO:0006406 mRNA export from nucleus
GO:0006915 apoptotic process
GO:0007417 central nervous system development
GO:0008380 RNA splicing
GO:0043066 negative regulation of apoptotic process
GO:0046784 intronless viral mRNA export from host nucleus
Cellular Component
GO:0000346 transcription export complex
GO:0000347 THO complex
GO:0000445 THO complex part of transcription export complex
GO:0005634 nucleus
GO:0016607 nuclear speck
Protein Structure and Domains
PDB ID
InterPro IPR001680 WD40 repeat
IPR017986 WD40-repeat-containing domain
PFAM PF00400
PRINTS
PIRSF
SMART SM00320
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q86W42
PhosphoSite PhosphoSite-Q86W42
TrEMBL
UniProt Splice Variant
Entrez Gene 79228
UniGene
RefSeq
HUGO HGNC:28369
OMIM 615403
CCDS
HPRD 14504
IMGT
EMBL AK075330 AK314086 BC003118 BC050674
GenPept AAH03118 AAH50674 BAC11552 BAG36782