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Overview |
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NOP10
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. Defects in NOP10 are a cause of dyskeratosis congenita autosomal recessive type 1 (DKCB1). 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. Belongs to the NOP10 family. Note: This description may include information from UniProtKB.
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Cellular Component: Cajal body; small nucleolar ribonucleoprotein complex; nucleolus
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Molecular Function: protein binding
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Biological Process: pseudouridine synthesis; rRNA processing
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Reference #:
Q9NPE3 (UniProtKB)
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| Alt. Names/Synonyms: homolog of yeast Nop10p; MGC70651; NOLA3; NOP10; NOP10 ribonucleoprotein homolog (yeast); NOP10P; nucleolar protein family A, member 3; nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs); Q9NPE3 |
| Gene Symbols: NOP10 |
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Molecular weight: 7,706 Da
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Basal Isoelectric point: 10.01
Predict pI for various phosphorylation states
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Select Structure to View Below |
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NOP10 |
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