Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55505
Gene name	NOP10 ribonucleoprotein
Gene symbol	NOP10
Synonyms (NCBI Gene)	CHINE2DKCB1NOLA3NOP10PPFBMFT9
Chromosome	15
Chromosome location	15q14
Summary	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 incl

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029941	hsa-miR-26b-5p	Microarray	19088304
MIRT031870	hsa-miR-16-5p	Proteomics	18668040
MIRT038200	hsa-miR-151a-5p	CLASH	23622248
MIRT1189297	hsa-miR-105	CLIP-seq
MIRT1189298	hsa-miR-194	CLIP-seq
MIRT1189299	hsa-miR-377	CLIP-seq
MIRT1189300	hsa-miR-409-5p	CLIP-seq
MIRT1189301	hsa-miR-4294	CLIP-seq
MIRT1189302	hsa-miR-4517	CLIP-seq
MIRT1189303	hsa-miR-4712-3p	CLIP-seq
MIRT1189304	hsa-miR-4731-3p	CLIP-seq
MIRT1189305	hsa-miR-4788	CLIP-seq
MIRT1189306	hsa-miR-4801	CLIP-seq
MIRT1189307	hsa-miR-539	CLIP-seq
MIRT1189308	hsa-miR-552	CLIP-seq
MIRT1189309	hsa-miR-659	CLIP-seq
MIRT1556739	hsa-miR-1243	CLIP-seq
MIRT1556740	hsa-miR-4463	CLIP-seq
MIRT1556739	hsa-miR-1243	CLIP-seq
MIRT2054826	hsa-miR-1262	CLIP-seq
MIRT2054827	hsa-miR-3115	CLIP-seq
MIRT1189300	hsa-miR-409-5p	CLIP-seq
MIRT1556740	hsa-miR-4463	CLIP-seq
MIRT2054828	hsa-miR-4671-5p	CLIP-seq
MIRT2054829	hsa-miR-4701-3p	CLIP-seq
MIRT2054830	hsa-miR-4715-3p	CLIP-seq
MIRT1189305	hsa-miR-4788	CLIP-seq
MIRT1189309	hsa-miR-659	CLIP-seq
MIRT1556739	hsa-miR-1243	CLIP-seq
MIRT2283856	hsa-miR-342-3p	CLIP-seq
MIRT1189299	hsa-miR-377	CLIP-seq
MIRT1189300	hsa-miR-409-5p	CLIP-seq
MIRT1189301	hsa-miR-4294	CLIP-seq
MIRT1556740	hsa-miR-4463	CLIP-seq
MIRT1189304	hsa-miR-4731-3p	CLIP-seq
MIRT1189305	hsa-miR-4788	CLIP-seq
MIRT1189306	hsa-miR-4801	CLIP-seq
MIRT1556739	hsa-miR-1243	CLIP-seq
MIRT2582026	hsa-miR-128	CLIP-seq
MIRT2582027	hsa-miR-135a	CLIP-seq
MIRT2582028	hsa-miR-135b	CLIP-seq
MIRT1189298	hsa-miR-194	CLIP-seq
MIRT2582029	hsa-miR-27a	CLIP-seq
MIRT2582030	hsa-miR-27b	CLIP-seq
MIRT2582031	hsa-miR-3127-5p	CLIP-seq
MIRT2582032	hsa-miR-3128	CLIP-seq
MIRT2582033	hsa-miR-3617	CLIP-seq
MIRT2582034	hsa-miR-3652	CLIP-seq
MIRT1189299	hsa-miR-377	CLIP-seq
MIRT2582035	hsa-miR-3910	CLIP-seq
MIRT2582036	hsa-miR-3913-3p	CLIP-seq
MIRT2582037	hsa-miR-3918	CLIP-seq
MIRT1189300	hsa-miR-409-5p	CLIP-seq
MIRT2582038	hsa-miR-4284	CLIP-seq
MIRT1189301	hsa-miR-4294	CLIP-seq
MIRT2582039	hsa-miR-4328	CLIP-seq
MIRT2582040	hsa-miR-4430	CLIP-seq
MIRT2582041	hsa-miR-4437	CLIP-seq
MIRT1556740	hsa-miR-4463	CLIP-seq
MIRT2582042	hsa-miR-4470	CLIP-seq
MIRT2582043	hsa-miR-4475	CLIP-seq
MIRT2582044	hsa-miR-4477b	CLIP-seq
MIRT2582045	hsa-miR-4505	CLIP-seq
MIRT2054828	hsa-miR-4671-5p	CLIP-seq
MIRT2582046	hsa-miR-4711-5p	CLIP-seq
MIRT1189304	hsa-miR-4731-3p	CLIP-seq
MIRT1189305	hsa-miR-4788	CLIP-seq
MIRT1189306	hsa-miR-4801	CLIP-seq
MIRT2582047	hsa-miR-548an	CLIP-seq
MIRT1189308	hsa-miR-552	CLIP-seq
MIRT2582048	hsa-miR-641	CLIP-seq
MIRT1189309	hsa-miR-659	CLIP-seq
MIRT1556739	hsa-miR-1243	CLIP-seq
MIRT2582026	hsa-miR-128	CLIP-seq
MIRT2582027	hsa-miR-135a	CLIP-seq
MIRT2582028	hsa-miR-135b	CLIP-seq
MIRT1189298	hsa-miR-194	CLIP-seq
MIRT2582029	hsa-miR-27a	CLIP-seq
MIRT2582030	hsa-miR-27b	CLIP-seq
MIRT2582031	hsa-miR-3127-5p	CLIP-seq
MIRT2582032	hsa-miR-3128	CLIP-seq
MIRT2582033	hsa-miR-3617	CLIP-seq
MIRT2582034	hsa-miR-3652	CLIP-seq
MIRT1189299	hsa-miR-377	CLIP-seq
MIRT2582035	hsa-miR-3910	CLIP-seq
MIRT2582036	hsa-miR-3913-3p	CLIP-seq
MIRT2582037	hsa-miR-3918	CLIP-seq
MIRT1189300	hsa-miR-409-5p	CLIP-seq
MIRT2582038	hsa-miR-4284	CLIP-seq
MIRT1189301	hsa-miR-4294	CLIP-seq
MIRT2582039	hsa-miR-4328	CLIP-seq
MIRT2582040	hsa-miR-4430	CLIP-seq
MIRT2582041	hsa-miR-4437	CLIP-seq
MIRT1556740	hsa-miR-4463	CLIP-seq
MIRT2582042	hsa-miR-4470	CLIP-seq
MIRT2582043	hsa-miR-4475	CLIP-seq
MIRT2582044	hsa-miR-4477b	CLIP-seq
MIRT2582045	hsa-miR-4505	CLIP-seq
MIRT2054828	hsa-miR-4671-5p	CLIP-seq
MIRT2582046	hsa-miR-4711-5p	CLIP-seq
MIRT1189304	hsa-miR-4731-3p	CLIP-seq
MIRT1189305	hsa-miR-4788	CLIP-seq
MIRT1189306	hsa-miR-4801	CLIP-seq
MIRT2582047	hsa-miR-548an	CLIP-seq
MIRT1189308	hsa-miR-552	CLIP-seq
MIRT2582048	hsa-miR-641	CLIP-seq
MIRT1189309	hsa-miR-659	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001522	Process	Pseudouridine synthesis	IEA
GO:0001522	Process	Pseudouridine synthesis	NAS	9843512
GO:0003723	Function	RNA binding	IPI	18082603
GO:0005515	Function	Protein binding	IPI	16601202, 23685356, 25416956, 25910212, 30021884, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005697	Component	Telomerase holoenzyme complex	IDA	18082603, 29695869
GO:0005697	Component	Telomerase holoenzyme complex	NAS	20351177
GO:0005697	Component	Telomerase holoenzyme complex	TAS	20351177, 22527283
GO:0005730	Component	Nucleolus	IEA
GO:0005732	Component	Sno(s)RNA-containing ribonucleoprotein complex	TAS	9843512
GO:0006364	Process	RRNA processing	IEA
GO:0007004	Process	Telomere maintenance via telomerase	IDA	29695869
GO:0007004	Process	Telomere maintenance via telomerase	NAS	20351177
GO:0007004	Process	Telomere maintenance via telomerase	TAS	22527283
GO:0015030	Component	Cajal body	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030515	Function	SnoRNA binding	IEA
GO:0031118	Process	RRNA pseudouridine synthesis	IBA
GO:0031120	Process	SnRNA pseudouridine synthesis	IBA
GO:0031429	Component	Box H/ACA snoRNP complex	IBA
GO:0031429	Component	Box H/ACA snoRNP complex	IDA	18082603
GO:0031429	Component	Box H/ACA snoRNP complex	TAS	22527283
GO:0034513	Function	Box H/ACA snoRNA binding	IPI	18082603
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0070034	Function	Telomerase RNA binding	IBA
GO:0070034	Function	Telomerase RNA binding	IPI	18082603
GO:0070034	Function	Telomerase RNA binding	TAS	22527283
GO:0072589	Component	Box H/ACA scaRNP complex	TAS	22527283
GO:0090661	Component	Box H/ACA telomerase RNP complex	IDA	18082603
GO:0090661	Component	Box H/ACA telomerase RNP complex	TAS	22527283
GO:0090671	Process	Telomerase RNA localization to Cajal body	HMP	25467444
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
606471	14378	ENSG00000182117

Q9NPE3

Protein name

H/ACA ribonucleoprotein complex subunit 3 (Nucleolar protein 10) (Nucleolar protein family A member 3) (snoRNP protein NOP10)

Protein 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 t

PDB

7BGB , 7TRC , 7V9A , 8OUE , 8OUF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04135	Nop10p	3 → 52	Nucleolar RNA-binding protein, Nop10p family	Family

Sequence

MFLQYYLNEQGDRVYTLKKFDPMGQQTCSAHPARFSPDDKYSRHRITIKKRFKVLMTQQP
RPVL

Sequence length

Interactions

View interactions

	KEGG		Reactome
	Ribosome biogenesis in eukaryotes		Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2	Pathogenic	rs1321378060	RCV003236697	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis congenita	Likely benign; Benign; Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis congenita, autosomal recessive 1	Uncertain significance; Likely benign; not provided; Conflicting classifications of pathogenicity; Benign	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dyskeratosis Congenita, Recessive	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9	Uncertain significance; Conflicting classifications of pathogenicity; no classifications from unflagged records	ClinVar ClinGen, ClinVar, Disgenet, HPO ClinGen, ClinVar, Disgenet, HPO ClinGen, ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (52)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28666010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	16427014, 17507419, 18252230, 18989882, 20008900, 22117216, 29055871		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	16427014, 17507419, 19036115, 29055871, 30728146	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dyskeratosis Congenita	Dyskeratosis Congenita	LHGDN	17507419		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dyskeratosis Congenita	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	17507419, 22965356, 28297620		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dyskeratosis congenita	Dyskeratosis Congenita	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dyskeratosis Congenita	Dyskeratosis Congenita	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dyskeratosis Congenita Autosomal Recessive	Dyskeratosis congenita	Pubtator	17507419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita, Autosomal Recessive	Dyskeratosis Congenita	BEFREE	17507419		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita, Autosomal Recessive	Dyskeratosis Congenita	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	17507419		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1	Dyskeratosis Congenita	UNIPROT_DG	17507419		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1	Dyskeratosis Congenita	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dystrophia unguium	Nail dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35054812	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Stenosis	Esophageal Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Stricture	Esophageal Stricture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Excessive tearing	Excessive Tearing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	GENOMICS_ENGLAND_DG	17507419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33288886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35085295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	38243290	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	37358014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	37440454	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

NOP10 (NOP10 ribonucleoprotein)