THOC6

THOC6 is a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in THOC6 is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome.

Full Name

THO Complex 6

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.

Biological Process

Biological Process apoptotic processSource:UniProtKB-KW
Biological Process central nervous system developmentSource:UniProtKB1 Publication
Biological Process mRNA export from nucleusSource:UniProtKB1 Publication
Biological Process mRNA processingSource:UniProtKB-KW
Biological Process negative regulation of apoptotic processSource:UniProtKB1 Publication
Biological Process RNA splicingSource:UniProtKB-KW
Biological Process viral mRNA export from host cell nucleusSource:UniProtKB1 Publication

Cellular Location

Nucleus
Nucleus speckle

Involvement in disease

Beaulieu-Boycott-Innes syndrome (BBIS):
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.