NOP10 NOP10 ribonucleoprotein [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOP10provided by HGNC
Official Full Name: NOP10 ribonucleoproteinprovided by HGNC
Primary source: HGNC:HGNC:14378
See related: Ensembl:ENSG00000182117 MIM:606471; AllianceGenome:HGNC:14378
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DKCB1; NOLA3; CHINE2; NOP10P; PFBMFT9
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 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]
Expression: Ubiquitous expression in bone marrow (RPKM 45.9), spleen (RPKM 43.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q14

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (34341719..34343136, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (32140024..32141441, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (34633920..34635337, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nucleolar protein 10 (NOP10) predicts poor prognosis in invasive breast cancer.
Title: Nucleolar protein 10 (NOP10) predicts poor prognosis in invasive breast cancer.
NOP10 predicts lung cancer prognosis and its associated small nucleolar RNAs drive proliferation and migration.
Title: NOP10 predicts lung cancer prognosis and its associated small nucleolar RNAs drive proliferation and migration.
Acute depletion of telomerase components DKC1 and NOP10 induces oxidative stress and disrupts ribosomal biogenesis via NPM1 and activation of the P53 pathway.
Title: Acute depletion of telomerase components DKC1 and NOP10 induces oxidative stress and disrupts ribosomal biogenesis via NPM1 and activation of the P53 pathway.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Title: Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Indian aplastic anemia patients did not have NOP10 mutations.
Title: Detection of mutations in TERT, the genes for telomerase reverse transcriptase, in Indian patients of aplastic anaemia: a pilot study.
Effects of dyskeratosis congenita mutations in NOP10 on assembly of H/ACA pre-RNPs
Title: Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
NOP10 has a role in the telomerase complex and telomere maintenance, and in autosomal recessive dyskeratosis congenita
Title: Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 MedGen: C5830590 OMIM: 620425 GeneReviews: Not available	not available
Dyskeratosis congenita, autosomal recessive 1 MedGen: C1857144 OMIM: 224230 GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders	Compare labs
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 MedGen: C5830560 OMIM: 620400 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Expression of HIV-1 Tat upregulates the abundance of NOP10 ribonucleoprotein (NOP10) in the nucleoli of Jurkat T-cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G60261 (e-PCR)
- UniSTS:137367

SHGC-33497 (e-PCR)
- UniSTS:41166

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IPI Inferred from Physical Interaction more info	PubMed
enables box H/ACA snoRNA binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables telomerase RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables telomerase RNA binding	IPI Inferred from Physical Interaction more info	PubMed
enables telomerase RNA binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in pseudouridine synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in rRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in snRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within telomerase RNA localization to Cajal body	HMP more info	PubMed
involved_in telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance via telomerase	NAS Non-traceable Author Statement more info	PubMed
involved_in telomere maintenance via telomerase	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of box H/ACA scaRNP complex	TAS Traceable Author Statement more info	PubMed
part_of box H/ACA snoRNP complex	IBA Inferred from Biological aspect of Ancestor more info
part_of box H/ACA snoRNP complex	IDA Inferred from Direct Assay more info	PubMed
part_of box H/ACA snoRNP complex	TAS Traceable Author Statement more info	PubMed
part_of box H/ACA telomerase RNP complex	IDA Inferred from Direct Assay more info	PubMed
part_of box H/ACA telomerase RNP complex	TAS Traceable Author Statement more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of sno(s)RNA-containing ribonucleoprotein complex	TAS Traceable Author Statement more info	PubMed
part_of telomerase holoenzyme complex	IDA Inferred from Direct Assay more info	PubMed
part_of telomerase holoenzyme complex	NAS Non-traceable Author Statement more info	PubMed
part_of telomerase holoenzyme complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: H/ACA ribonucleoprotein complex subunit 3

Names: NOP10 ribonucleoprotein homolog; homolog of yeast Nop10p; nucleolar protein 10; nucleolar protein family A member 3; nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs); snoRNP protein NOP10

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.