TPRKB Gene - TP53RK Binding Protein
Essential component of the EKC/KEOPS complex involved in telomere maintenance and tRNA modification
Gene Information Card
| Symbol | TPRKB |
|---|---|
| Full Name | TP53RK Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 51002 ncbi.nlm.nih.gov/gene/51002 |
| Ensembl ID | ENSG00000144021 |
| UniProt ID | Q9Y2I8 |
| OMIM ID | 609175 |
| HGNC ID | 24259 |
| Aliases | C20orf64, CGI-121, HSPC147, TP53RKBP |
Description
The TPRKB gene encodes a protein that binds TP53RK and is a component of the EKC/KEOPS complex. This complex is required for telomere maintenance and proper tRNA modification, specifically the threonylcarbamoyladenosine (t6A) modification of tRNA. TPRKB is essential for cell viability and plays a role in protein translation and genome stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression or mutation may disrupt telomere maintenance and translation fidelity, contributing to oncogenesis. | COSMIC; literature |
| Gallbladder cancer | Somatic mutations in TPRKB have been identified in gallbladder cancer samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.3 | Medium expression |
| K562 | 11.0 | Medium expression |
| MCF7 | 8.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374G>A (p.Arg125Gln) | Missense | <1% | Unknown functional impact |
| c.487C>T (p.Arg163Trp) | Missense | <1% | Unknown functional impact |
| c.1A>G (p.Met1Val) | Start loss | <1% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) are predicted to abolish protein production, leading to loss of EKC/KEOPS complex function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TPRKB.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for TPRKB.
View complete mutation data：
Gene Ontology (GO)
| • tRNA threonylcarbamoyladenosine modification | • telomere maintenance |
| • protein binding | • nucleus |
| • cytoplasm |
Pathways
• EKC/KEOPS complex
• tRNA modification
• Telomere maintenance
Protein Summary
TPRKB is a 185-amino acid protein that localizes to the nucleus and cytoplasm. It interacts with TP53RK and other components of the EKC/KEOPS complex. The protein is essential for the threonylcarbamoyladenosine (t6A) modification of tRNA, which is critical for accurate protein translation. TPRKB also contributes to telomere capping and genome stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPRKB Knockout HEK293 Cell Line | EDJ-KQ10863 | Human | 51002 | Details Get a Quote |
| TPRKB Knockout HCT 116 Cell Line | EDJ-KQ38533 | Human | 51002 | Details Get a Quote |
| TPRKB Knockout HeLa Cell Line | EDJ-KQ38534 | Human | 51002 | Details Get a Quote |
| TPRKB Knockout A-549 Cell Line | EDJ-KQ64698 | Human | 51002 | Details Get a Quote |
