TRIR Gene: Telomerase RNA Component Interacting RNase
Essential regulator of telomerase RNA processing and telomere maintenance
Gene Information Card
| Symbol | TRIR |
|---|---|
| Full Name | Telomerase RNA Component Interacting RNase |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9H6T0 |
| OMIM ID | 602072 |
| HGNC ID | 12006 |
| Aliases | DKCB5, NHP2L1, snoRNP protein |
Description
The TRIR gene encodes a protein that interacts with the telomerase RNA component (TERC) and is involved in the processing and stability of telomerase RNA. It is a component of the H/ACA small nucleolar ribonucleoprotein (snoRNP) complex, which is essential for telomere maintenance and ribosome biogenesis. Mutations in TRIR are associated with dyskeratosis congenita and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyskeratosis Congenita | Loss-of-function mutations impair telomerase RNA processing, leading to telomere shortening and bone marrow failure | ClinVar, OMIM |
| Pulmonary Fibrosis | Telomere dysfunction due to TRIR mutations contributes to idiopathic pulmonary fibrosis | ClinVar |
| Cancer (various) | Somatic mutations and altered expression in multiple cancer types, including leukemia and solid tumors | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Testis | 18.3 | High |
| Lung | 8.1 | Low |
| Liver | 6.4 | Low |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 11.2 | Moderate expression |
| K562 | 9.8 | Moderate expression |
| A549 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215A>G (p.Asn72Ser) | Missense | 0.01% | Reduced TERC binding |
| c.307C>T (p.Arg103*) | Nonsense | 0.005% | Loss of function |
| c.418_419del (p.Leu140fs) | Frameshift | 0.002% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt TERC binding or snoRNP assembly lead to telomerase deficiency and telomere shortening.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type protein function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • telomerase RNA binding |
| • H/ACA snoRNP complex | • telomere maintenance |
| • ribosome biogenesis |
Pathways
• Telomere maintenance
• H/ACA snoRNP assembly
• RNA processing
Protein Summary
The TRIR protein is a 153-amino acid component of the H/ACA snoRNP complex, essential for the pseudouridylation of ribosomal RNA and the processing of telomerase RNA. It directly binds to the telomerase RNA component (TERC) and is required for telomerase activity. The protein is localized to the nucleolus and Cajal bodies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIR Knockout HEK293 Cell Line | EDJ-KQ15938 | Human | 79002 | Details Get a Quote |
| TRIR Knockout A-549 Cell Line | EDJ-KQ46947 | Human | 79002 | Details Get a Quote |
| TRIR Knockout HCT 116 Cell Line | EDJ-KQ46948 | Human | 79002 | Details Get a Quote |
| TRIR Knockout HeLa Cell Line | EDJ-KQ46949 | Human | 79002 | Details Get a Quote |
