NOP10
entrez
55505
canonical
uniprot
Q9NPE3
canonical
ensembl
ENSG00000182117
resolver
ensembl
ENSG00000291996
resolver
ensp
ENSP00000332198
resolver
ensp
ENSP00000517739
resolver
enst
ENST00000328848
resolver
enst
ENST00000709520
resolver
genesymbol
NOP10
resolver
genesymbol_syn
NOLA3
resolver
hgnc
HGNC:14378
resolver
uniprot_entry
NOP10_HUMAN
resolver
amino_acid_sequence
MFLQYYLNEQGDRVYTLKKFDPMGQQTCSAHPARFSPDDKYSRHRITIKKRFKVLMTQQPRPVL
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:17507419}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 (CHINE2) [MIM:620425]: An autosomal recessive disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. It results in death in early childhood. {ECO:0000269|PubMed:32554502}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 9 (PFBMFT9) [MIM:620400]: An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT9 is characterized by the development of pulmonary fibrosis or hematologic abnormalities in adulthood. Liver disease may also be present. There is incomplete penetrance and evidence of genetic anticipation. {ECO:0000269|PubMed:32139460}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (PubMed:32554502). 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:0000269|PubMed:15044956, ECO:0000269|PubMed:32554502}.
uniprot
proteins
mass_dalton
7706
uniprot
proteins
protein_family
NOP10 family
uniprot
proteins
pubmed
11074001
uniprot
proteins
pubmed
15044956
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16601202
uniprot
proteins
pubmed
17507419
uniprot
proteins
pubmed
19179534
uniprot
proteins
pubmed
20351177
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
29695869
uniprot
proteins
pubmed
32139460
uniprot
proteins
pubmed
32554502
uniprot
proteins
sequence_length
64
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11074001}. Nucleus, Cajal body {ECO:0000269|PubMed:11074001}. Note=Also localized to Cajal bodies (coiled bodies).
uniprot
proteins