THOC6 Gene Summary [Human]

This gene encodes 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 this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]

Details

Type
Retained Intron
Official Symbol
THOC6
Official Name
THO complex 6 [Source:HGNC Symbol;Acc:HGNC:28369]
Ensembl ID
ENSG00000131652
Bio databases IDs NCBI: 79228 Ensembl: ENSG00000131652
Aliases THO complex 6, functional spliceosome-associated protein 35
Synonyms F830014G06Rik, fSAP35, MMRFCGU, Pdrp, THO complex 6, THO complex subunit 6, TREX40, WDR58
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human THOC6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • WD40 repeats
  • WD domain, G-beta repeat
  • WD40
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • hereditary disorder
  • microcephaly, mental retardation, and distinctive facies with cardiac and genitourinary malformations
regulated by
regulates
role in cell
  • autophagy in
  • autophagy
  • alternative splicing in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • cellular membrane
  • spliceosomes
  • nucleoplasm
  • nuclear bodies
  • nuclear speckles
  • telomeres

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human THOC6 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • mRNA export from nucleus
  • RNA splicing
  • central nervous system development
  • apoptotic process
  • mRNA processing

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • chromosome, telomeric region
  • nuclear body
  • nuclear speck
  • THO complex
  • THO complex part of transcription export complex
  • transcription export complex
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • RNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.