THOC1


Description

The THOC1 (THO complex subunit 1) is a protein-coding gene located on chromosome 18.

THO complex subunit 1 is a protein that in humans is encoded by the THOC1 gene. HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 606390).[supplied by OMIM] THOC1 has been shown to interact with Retinoblastoma protein.

THOC1 is essential for efficient export of polyadenylated RNA. As a component of the THO subcomplex within the TREX complex, it couples mRNA transcription, processing, and nuclear export. THOC1 specifically interacts with spliced mRNA, not unspliced pre-mRNA. TREX binds to mRNA upstream of the exon-junction complex (EJC) and is recruited near the 5' end of the mRNA, facilitating mRNA export to the cytoplasm through the TAP/NFX1 pathway. THOC1 is critical for exporting intronless mRNAs of Kaposi's sarcoma-associated herpesvirus (KSHV), thus impacting viral production. It also regulates transcriptional elongation of certain genes and contributes to genome stability by preventing co-transcriptional R-loop formation. Additionally, THOC1 may be involved in hair cell formation, suggesting a potential role in hearing.

THOC1 is also known as DFNA86, HPR1, P84, P84N5.

Associated Diseases



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