NOP10 Ribonucleoprotein
Essential component of H/ACA snoRNP complex and telomerase
Gene Information Card
| Symbol | NOP10 |
|---|---|
| Full Name | NOP10 ribonucleoprotein |
| Gene Type | protein-coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 55505 ncbi.nlm.nih.gov/gene/55505 |
| Ensembl ID | ENSG00000151365 |
| UniProt ID | Q9H3Y6 |
| OMIM ID | 606471 |
| HGNC ID | 14378 |
| Aliases | NOLA3, snoRNP protein NOP10, H/ACA ribonucleoprotein complex subunit 3 |
Description
NOP10 encodes a core component of the H/ACA small nucleolar ribonucleoprotein (snoRNP) complex, which catalyzes pseudouridylation of ribosomal RNA and is essential for ribosome biogenesis. NOP10 also forms part of the telomerase holoenzyme, where it contributes to telomere maintenance. Mutations in NOP10 cause dyskeratosis congenita, a bone marrow failure syndrome characterized by abnormal telomere shortening.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyskeratosis congenita, autosomal recessive | Loss-of-function mutations impair telomerase activity leading to telomere shortening | OMIM #224230; ClinVar; PMID: 15173231 |
| Pulmonary fibrosis | Telomere dysfunction due to NOP10 variants | ClinVar; PMID: 25848746 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Bone marrow | 11.8 | Medium |
| Lymph node | 10.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 12.4 | Leukemia cell line |
| HeLa | 10.1 | Cervical carcinoma |
| HEK293 | 9.7 | Embryonic kidney |
| A549 | 8.5 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | Rare | Reduced telomerase activity; associated with dyskeratosis congenita |
| c.139G>A (p.Gly47Arg) | Missense | Rare | Impaired H/ACA snoRNP assembly; telomere shortening |
Mutation functional classification
Loss of Function (LOF)
NOP10 missense mutations (e.g., p.Arg34Trp, p.Gly47Arg) reduce telomerase activity and snoRNP function, leading to telomere shortening.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • nucleolus (GO:0005730) |
| • rRNA processing (GO:0006364) | • telomere maintenance via telomerase (GO:0007004) |
| • box H/ACA snoRNP complex (GO:0031429) | • pseudouridine synthesis (GO:0001522) |
Pathways
• Telomere maintenance (telomerase)
• rRNA pseudouridylation (H/ACA snoRNP)
Protein Summary
NOP10 is a 64-amino acid protein that forms a heterotrimeric core with NHP2 and GAR1 within the H/ACA snoRNP complex. It binds RNA and is essential for pseudouridylation of ribosomal RNA. In telomerase, NOP10 stabilizes the complex and is required for telomere elongation. The protein is highly conserved and ubiquitously expressed.
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