NOP58 Ribonucleoprotein
Key component of the C/D box small nucleolar ribonucleoprotein complex involved in rRNA processing and ribosome biogenesis
Gene Information Card
| Symbol | NOP58 |
|---|---|
| Full Name | NOP58 ribonucleoprotein |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 51602 ncbi.nlm.nih.gov/gene/51602 |
| Ensembl ID | ENSG00000163041 |
| UniProt ID | Q9Y2X3 |
| OMIM ID | 606464 |
| HGNC ID | 29926 |
| Aliases | NOP5, NOP5/NOP58, HSPC120, MGC104231 |
Description
NOP58 encodes a core component of the C/D box small nucleolar ribonucleoprotein (snoRNP) complex, which is essential for 2'-O-methylation of ribosomal RNA (rRNA) and pre-rRNA processing. The protein interacts with other snoRNP proteins such as NOP56, fibrillarin, and SNU13 to guide site-specific methylation of rRNA. NOP58 is required for proper ribosome biogenesis and cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of ribosome biogenesis via altered NOP58 expression may promote uncontrolled cell growth. | COSMIC; multiple cancer types show somatic mutations and copy number alterations. |
| Intellectual disability (candidate) | Disruption of snoRNP function can impair rRNA processing, potentially affecting neuronal development. | ClinVar; rare missense variants reported in individuals with neurodevelopmental phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 22.1 | High |
| Lymph node | 18.7 | Medium |
| Brain | 12.3 | Medium |
| Liver | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.4 | High expression in embryonic kidney cells |
| K562 | 25.1 | High expression in leukemia cell line |
| HeLa | 20.6 | Medium expression in cervical cancer cells |
| HepG2 | 15.3 | Medium expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Unknown; rare variant in ClinVar |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown; reported in neurodevelopmental disorder |
| Amplification | Copy number gain | ~2% in breast cancer | Potential oncogenic effect via increased ribosome biogenesis |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in human disease; likely essential for cell viability.
Gain of Function (GOF)
Amplification observed in some cancers may lead to increased snoRNP activity and enhanced ribosome production.
Dominant Negative (DN)
Not described for NOP58.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • small nucleolar ribonucleoprotein complex (GO:0030529) |
| • rRNA processing (GO:0006364) | • RNA binding (GO:0003723) |
| • rRNA methyltransferase activity (GO:0008649) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing (Reactome: R-HSA-72312)
Protein Summary
NOP58 is a 529-amino acid protein localized to the nucleolus. It contains a coiled-coil domain and a KKD/E motif important for snoRNP assembly. As part of the C/D box snoRNP complex, NOP58 binds directly to the C/D box snoRNA and facilitates the recruitment of fibrillarin for site-specific 2'-O-methylation of rRNA. The protein is highly conserved across eukaryotes and is essential for cell growth and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
