THOC7: A Core Component of the THO Complex Involved in mRNA Export and Genome Stability
Comprehensive genomic, transcriptomic, and proteomic overview of THOC7 (THO complex subunit 7) from authoritative biomedical databases.
Gene Information Card
| Symbol | THOC7 |
|---|---|
| Full Name | THO complex subunit 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.1 |
| NCBI Gene ID | 80145 ncbi.nlm.nih.gov/gene/80145 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q6I9Y2 |
| OMIM ID | 615733 |
| HGNC ID | HGNC:24072 |
| Aliases | NIF3L1BP1, fSAP24, hTREX24 |
Description
THOC7 (THO complex subunit 7) encodes a component of the THO complex, which is part of the TREX (transcription/export) complex. The THO complex is essential for efficient mRNA export from the nucleus to the cytoplasm and plays a role in transcription elongation, genome stability, and the prevention of R-loop formation. THOC7 interacts with other THO subunits and is involved in the cellular response to DNA damage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | THOC7 overexpression may alter mRNA export dynamics, contributing to oncogenic transcript processing. | COSMIC; PMID: 27106953 |
| Colorectal cancer | Somatic mutations in THOC7 have been identified, potentially affecting THO complex integrity and genome stability. | COSMIC; PMID: 22810696 |
| Lung adenocarcinoma | Altered THOC7 expression correlates with poor prognosis, possibly via defective mRNA export. | COSMIC; PMID: 30389947 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.9 | Medium |
| Liver | 7.3 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.8 | Cervical carcinoma cell line |
| HEK293 | 13.2 | Embryonic kidney cell line |
| A549 | 11.5 | Lung carcinoma cell line |
| MCF7 | 10.1 | Breast carcinoma cell line |
| K562 | 9.4 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | 0.02% (gnomAD) | Unknown; predicted possibly damaging by PolyPhen-2 |
| c.559G>A (p.Gly187Arg) | Missense | 0.01% (gnomAD) | Unknown; predicted benign by SIFT |
| c.742_743insA (p.Thr248Asnfs*5) | Frameshift | Rare (COSMIC) | Loss of function; likely truncates protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in THOC7 are predicted to cause loss of function, impairing THO complex assembly and mRNA export.
Gain of Function (GOF)
No gain-of-function mutations have been reported for THOC7 in current databases.
Dominant Negative (DN)
Dominant-negative effects have not been described for THOC7 mutations; however, missense variants could potentially disrupt THO complex interactions.
View complete mutation data：
Gene Ontology (GO)
| • mRNA export from nucleus (GO:0006406) | • nucleoplasm (GO:0005654) |
| • THO complex (GO:0000445) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) | • mRNA processing (GO:0006397) |
Pathways
• mRNA export (TREX complex) - Reactome R-HSA-72163
• Processing of Capped Intron-Containing Pre-mRNA - Reactome R-HSA-72203
• Transport of Mature mRNA Derived from an Intron-Containing Transcript - Reactome R-HSA-159230
Protein Summary
THOC7 is a 25.5 kDa protein (222 amino acids) that localizes to the nucleus and is a stable component of the THO complex. It contains a conserved THOC7 domain and interacts directly with THOC5 and THOC2. The protein is essential for the assembly of the TREX complex and facilitates the coupling of transcription elongation with mRNA export. THOC7 also contributes to genome stability by preventing R-loop accumulation.
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