NOP10

Protein identityUniProt · HPA

UniProt accession

Q9NPE3

Gene

NOP10

Ensembl

ENSG00000182117

Chromosome

15

Canonical length

64 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nuclear bodies

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

64 residues, UniProt reviewed canonical sequence.

>Q9NPE3|NOP10
     1  MFLQYYLNEQ GDRVYTLKKF DPMGQQTCSA HPARFSPDDK YSRHRITIKK RFKVLMTQQP
    61  RPVL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NOP10 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.52

Highest tissue expression

267 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NOP10.

Disease | AllUniProt

Conditions NOP10 is implicated in, by any mechanism.

• Dyskeratosis congenita, autosomal recessive, 1 (DKCB1) MIM:224230
• Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 (CHINE2) MIM:620425
• Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 9 (PFBMFT9) MIM:620400

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 91 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.62

gnomAD pLI

0.77

gnomAD missense Z

0.32

DepMap mean gene effect

-0.93

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• pseudouridine synthesis
• rRNA pseudouridine synthesis
• snRNA pseudouridine synthesis
• telomerase RNA localization to Cajal body
• telomere maintenance via telomerase

Molecular functions

• box H/ACA snoRNA binding
• RNA binding
• telomerase RNA binding

Cellular components

• box H/ACA scaRNP complex
• box H/ACA snoRNP complex
• box H/ACA telomerase RNP complex
• nuclear body
• nucleoplasm
• sno(s)RNA-containing ribonucleoprotein complex
• telomerase holoenzyme complex

Protein domainsUniProt · Pfam · InterPro

• H/ACA ribonucleoprotein complex, subunit Nop10
• H/ACA ribonucleoprotein complex, subunit Nop10 superfamily
• Nucleolar RNA-binding protein, Nop10p family

KeywordsUniProt

• Cataract
• Deafness
• Dyskeratosis congenita
• Nucleus
• Ribonucleoprotein
• Ribosome biogenesis
• rRNA processing

InteractionsUniProt · HPA

Protein binding partners of NOP10 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TERC
• DKC1
• GAR1
• NAF1
• NHP2