THOC1: THO Complex Subunit 1
A key component of the THO complex involved in transcription elongation and mRNA export, with implications in cancer and genetic disorders.
Gene Information Card
| Symbol | THOC1 |
|---|---|
| Full Name | THO complex subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.32 |
| NCBI Gene ID | 9984 ncbi.nlm.nih.gov/gene/9984 |
| Ensembl ID | ENSG00000179144 |
| UniProt ID | Q96FV9 |
| OMIM ID | 606930 |
| HGNC ID | 19073 |
| Aliases | HPR1, THO1, fSAP79, P84, NIF3L1BP1 |
Description
THOC1 encodes a component of the THO complex, which is part of the TREX (transcription/export) complex. This complex couples transcription elongation with mRNA export from the nucleus to the cytoplasm. THOC1 is essential for proper gene expression and genomic stability. Mutations and dysregulation of THOC1 have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of THOC1 affects mRNA export and genome stability, promoting tumorigenesis. | NCBI Gene, COSMIC |
| Neurodevelopmental disorders | Mutations in THOC1 may impair neuronal mRNA export, leading to developmental phenotypes. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK293 | 12.3 | Embryonic kidney cells |
| K562 | 11.0 | Leukemia cell line |
| HepG2 | 9.8 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of function |
| c.742C>T (p.Arg248Trp) | Missense | Rare | Unknown significance |
| c.1234delG | Frameshift | Very rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein are predicted to cause loss of function, impairing THO complex assembly and mRNA export.
Gain of Function (GOF)
No documented gain-of-function mutations for THOC1.
Dominant Negative (DN)
Some missense mutations may disrupt THO complex interactions, potentially exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• mRNA export from nucleus (TREX complex)
• Transcription elongation by RNA polymerase II
Protein Summary
THOC1 is a 657-amino acid protein that forms part of the THO complex. It contains a conserved HPR1 domain and interacts with other THO subunits to facilitate the coupling of transcription and mRNA export. The protein is localized in the nucleus and is essential for cellular viability.
Related Services
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|---|---|---|---|---|
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