TTC5 (Tetratricopeptide Repeat Domain 5)
A gene encoding a tetratricopeptide repeat-containing protein involved in stress response and transcriptional regulation.
Gene Information Card
| Symbol | TTC5 |
|---|---|
| Full Name | Tetratricopeptide Repeat Domain 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 91875 ncbi.nlm.nih.gov/gene/91875 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N3Z6 |
| OMIM ID | 615432 |
| HGNC ID | 29189 |
| Aliases | TPR repeat protein 5, TPR5, STRIP1 |
Description
TTC5 encodes a protein containing tetratricopeptide repeats (TPR), which mediate protein-protein interactions. The protein is involved in cellular stress responses, including the unfolded protein response (UPR) and DNA damage signaling. It interacts with heat shock proteins and transcription factors to regulate gene expression under stress conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered TTC5 expression may affect stress response pathways, potentially influencing tumor progression. | COSMIC; PMID: 23535731 |
| Colorectal cancer | Mutations in TTC5 have been identified in colorectal cancer samples, suggesting a role in tumorigenesis. | COSMIC; PMID: 26619011 |
| Neurodevelopmental disorders | Rare variants in TTC5 have been associated with intellectual disability and developmental delay. | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.0 | Embryonic kidney cells; moderate expression |
| HeLa | 7.5 | Cervical cancer cells; low expression |
| K562 | 6.8 | Leukemia cells; low expression |
| MCF7 | 9.2 | Breast cancer cells; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.832G>A (p.Glu278Lys) | Missense | <0.01% | Unknown; reported in COSMIC in colorectal cancer |
| c.1120_1121insA (p.Thr374Asnfs*2) | Frameshift | <0.01% | Loss-of-function; predicted to cause nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to lead to loss of TTC5 protein function, impairing stress response pathways.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TTC5.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for TTC5.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • protein folding (GO:0006457) |
| • cellular response to unfolded protein (GO:0034620) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• Unfolded Protein Response (UPR) – TTC5 interacts with HSP70 and HSP90 to modulate stress signaling.
• DNA Damage Response – TTC5 is involved in p53-dependent transcriptional regulation after genotoxic stress.
Protein Summary
The TTC5 protein (UniProt Q8N3Z6) is a 480-amino acid polypeptide containing multiple tetratricopeptide repeats. It localizes to the cytoplasm and nucleus, where it participates in protein-protein interactions critical for stress signaling. TTC5 binds to heat shock proteins (HSP70/HSP90) and transcription factors such as p53, facilitating proper folding and transcriptional activation under cellular stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTC5 Knockout HEK293 Cell Line | EDJ-KQ10801 | Human | 91875 | Details Get a Quote |
| TTC5 Knockout A-549 Cell Line | EDJ-KQ38441 | Human | 91875 | Details Get a Quote |
| TTC5 Knockout HCT 116 Cell Line | EDJ-KQ38442 | Human | 91875 | Details Get a Quote |
| TTC5 Knockout HeLa Cell Line | EDJ-KQ38443 | Human | 91875 | Details Get a Quote |
