TCOF1
Treacle Ribosome Biogenesis Factor 1
Gene Information Card
| Symbol | TCOF1 |
|---|---|
| Full Name | Treacle Ribosome Biogenesis Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q32-q33.1 |
| NCBI Gene ID | 6949 ncbi.nlm.nih.gov/gene/6949 |
| Ensembl ID | ENSG00000070814 |
| UniProt ID | Q13428 |
| OMIM ID | 606847 |
| HGNC ID | 11654 |
| Aliases | TCS, MFD1, treacle |
Description
TCOF1 encodes treacle, a nucleolar phosphoprotein that plays a critical role in ribosome biogenesis by regulating rRNA transcription and processing. Treacle interacts with upstream binding factor (UBF) and RNA polymerase I to facilitate ribosomal DNA transcription. Mutations in TCOF1 cause Treacher Collins syndrome (TCS), a craniofacial developmental disorder, due to haploinsufficiency leading to reduced ribosome production and neural crest cell apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Treacher Collins syndrome (TCS) | Haploinsufficiency of treacle impairs ribosome biogenesis, leading to reduced proliferation and increased apoptosis of neural crest cells during craniofacial development. | OMIM #154500; ClinVar; multiple studies confirm pathogenic loss-of-function mutations. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Low |
| Heart | 6.5 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.3 | Low |
| Testis | 12.1 | Medium |
| Lung | 7.0 | Low |
| Spleen | 6.8 | Low |
| Pancreas | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.5 | Cervical adenocarcinoma; moderate expression |
| K562 | 7.8 | Chronic myeloid leukemia; low expression |
| HEK293 | 8.1 | Embryonic kidney; low expression |
| SH-SY5Y | 10.2 | Neuroblastoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4369_4373delAAGAA | Frameshift deletion | Common in TCS | Loss of function; premature termination |
| c.2619C>G (p.Tyr873*) | Nonsense | Rare | Loss of function; truncated protein |
| c.754_755insC | Frameshift insertion | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Majority of TCOF1 mutations are loss-of-function (nonsense, frameshift, splice-site) leading to haploinsufficiency and reduced treacle protein levels.
Gain of Function (GOF)
No evidence of gain-of-function mutations in TCOF1.
Dominant Negative (DN)
Not reported; mechanism is primarily haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • ribosome biogenesis (GO:0042254) | • nucleoplasm (GO:0005654) |
| • protein binding (GO:0005515) |
Pathways
• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)
• RNA polymerase I transcription (Reactome: R-HSA-73762)
Protein Summary
Treacle is a 1488-amino-acid nucleolar phosphoprotein with multiple LIS1 homology domains and a coiled-coil region. It shuttles between the nucleolus and nucleoplasm, interacting with UBF and RNA polymerase I to promote rRNA transcription. Treacle also participates in pre-rRNA processing and methylation. Its C-terminal domain is essential for nucleolar localization. Loss of treacle function disrupts ribosome production, triggering p53-dependent apoptosis in neural crest cells, which underlies the craniofacial defects in Treacher Collins syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TCOF1 Knockout HEK293 Cell Line | EDJ-KQ5166 | Human | 6949 | Details Get a Quote |
| TCOF1 Knockout A-549 Cell Line | EDJ-KQ29416 | Human | 6949 | Details Get a Quote |
| TCOF1 Knockout HCT 116 Cell Line | EDJ-KQ29418 | Human | 6949 | Details Get a Quote |
| TCOF1 Knockout HeLa Cell Line | EDJ-KQ29419 | Human | 6949 | Details Get a Quote |
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