Version 5.4
Homo sapiens Protein: NOP10
Summary
InnateDB Protein IDBP-5503.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NOP10
Protein Name NOP10 ribonucleoprotein homolog (yeast)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000332198
InnateDB Gene IDBG-5501 (NOP10)
Protein Structure
UniProt Annotation
Function Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. {ECO:0000269PubMed:15044956}.
Subcellular Localization Nucleus, nucleolus {ECO:0000269PubMed:11074001}. Nucleus, Cajal body {ECO:0000269PubMed:11074001}. Note=Also localized to Cajal bodies (coiled bodies).
Disease Associations Dyskeratosis congenita, autosomal recessive, 1 (DKCB1) [MIM:224230]: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269PubMed:17507419}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated
Total 17 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0030515 snoRNA binding
Biological Process
GO:0001522 pseudouridine synthesis
GO:0006364 rRNA processing
GO:0042254 ribosome biogenesis
Cellular Component
GO:0005730 nucleolus
GO:0005732 small nucleolar ribonucleoprotein complex
GO:0015030 Cajal body
GO:0072588 box H/ACA RNP complex
Protein Structure and Domains
PDB ID
InterPro IPR007264 H/ACA ribonucleoprotein complex, subunit Nop10
PFAM PF04135
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NPE3
PhosphoSite PhosphoSite-Q9NPE3
TrEMBL
UniProt Splice Variant
Entrez Gene 55505
UniGene
RefSeq NP_061118
HUGO HGNC:14378
OMIM 606471
CCDS CCDS10037
HPRD 07571
IMGT
EMBL AB043103 AB043104 BC008886 BC063023
GenPept AAH08886 AAH63023 BAA96107 BAA96133

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca