NOP10 Gene Summary [Human]
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NOP10 |
| Official Name | NOP10 ribonucleoprotein [Source:HGNC Symbol;Acc:HGNC:14378] |
| Ensembl ID | ENSG00000182117 |
| Bio databases IDs | |
| Aliases | NOP10 ribonucleoprotein, homolog of yeast Nop10p |
| Synonyms | 1110036B12Rik, CHINE2, DKCB1, LOC687899, NOLA3, NOP10P, NOP10 ribonucleoprotein, PFBMFT9 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NOP10 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- snoRNA binding
- protein binding
- Nucleolar RNA-binding protein, Nop10p family
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- telomere-related pulmonary fibrosis and/or bone marrow failure syndrome type 9
- autosomal recessive dyskeratosis congenita type 1
- cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
role in cell
- telomere-length maintenance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- interchromatin granule cluster fractions
- dense fibrillar component
- nucleoplasm
- nucleoli
- nuclear bodies
- Cajal bodies
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NOP10 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pseudouridine synthesis
- rRNA pseudouridine synthesis
- snRNA pseudouridine synthesis
- telomere maintenance via telomerase
Cellular Component
Where in the cell the gene product is active
- box H/ACA snoRNP complex
- nuclear body
- box H/ACA scaRNP complex
- telomerase holoenzyme complex
- small nucleolar ribonucleoprotein complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA binding
- protein binding
- telomeric RNA binding
- box H/ACA snoRNA binding