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Protein

H/ACA ribonucleoprotein complex subunit 3

Gene

NOP10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • box H/ACA snoRNA binding Source: BHF-UCL
  • RNA binding Source: BHF-UCL
  • telomerase RNA binding Source: BHF-UCL

GO - Biological processi

  • positive regulation of telomerase RNA localization to Cajal body Source: BHF-UCL
  • pseudouridine synthesis Source: UniProtKB
  • rRNA pseudouridine synthesis Source: GO_Central
  • snoRNA guided rRNA pseudouridine synthesis Source: Ensembl
  • snRNA pseudouridine synthesis Source: GO_Central
  • telomere maintenance via telomerase Source: UniProtKB

Keywordsi

Molecular functionRibonucleoprotein
Biological processRibosome biogenesis, rRNA processing

Enzyme and pathway databases

ReactomeiR-HSA-6790901 rRNA modification in the nucleus and cytosol

Names & Taxonomyi

Protein namesi
Recommended name:
H/ACA ribonucleoprotein complex subunit 3
Alternative name(s):
Nucleolar protein 10
Nucleolar protein family A member 3
snoRNP protein NOP10
Gene namesi
Name:NOP10
Synonyms:NOLA3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000182117.5
HGNCiHGNC:14378 NOP10
MIMi606471 gene
neXtProtiNX_Q9NPE3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Dyskeratosis congenita, autosomal recessive, 1 (DKCB1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:224230
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04372534R → W in DKCB1. 1 PublicationCorresponds to variant dbSNP:rs121908092EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dyskeratosis congenita

Organism-specific databases

DisGeNETi55505
GeneReviewsiNOP10
MalaCardsiNOP10
MIMi224230 phenotype
OpenTargetsiENSG00000182117
Orphaneti1775 Dyskeratosis congenita
PharmGKBiPA164723973

Polymorphism and mutation databases

BioMutaiNOP10
DMDMi54036209

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001490011 – 64H/ACA ribonucleoprotein complex subunit 3Add BLAST64

Proteomic databases

EPDiQ9NPE3
MaxQBiQ9NPE3
PaxDbiQ9NPE3
PeptideAtlasiQ9NPE3
PRIDEiQ9NPE3
ProteomicsDBi81979
TopDownProteomicsiQ9NPE3

PTM databases

iPTMnetiQ9NPE3
PhosphoSitePlusiQ9NPE3

Expressioni

Gene expression databases

BgeeiENSG00000182117 Expressed in 228 organ(s), highest expression level in oocyte
CleanExiHS_NOP10
ExpressionAtlasiQ9NPE3 baseline and differential
GenevisibleiQ9NPE3 HS

Organism-specific databases

HPAiHPA059198

Interactioni

Subunit structurei

Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2, GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit (PubMed:11074001). The complex contains a stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1 (PubMed:11074001). The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate (PubMed:16601202). During assembly, the complex contains NAF1 instead of GAR1/NOLA1 (PubMed:11074001, PubMed:16601202). The complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs (PubMed:11074001, PubMed:16601202). Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2 (PubMed:11074001, PubMed:16601202). Associates with NOLC1/NOPP140 (PubMed:11074001, PubMed:16601202). H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4 (PubMed:11074001, PubMed:16601202). This is mediated by interaction between GAR1 and SMN1 or SMN2 (PubMed:11074001, PubMed:16601202). The SMN complex may be required for correct assembly of the H/ACA snoRNP complex (PubMed:11074001, PubMed:16601202). Component of the telomerase holoenzyme complex composed of one molecule of TERT, one molecule of WRAP53/TCAB1, two molecules of H/ACA ribonucleoprotein complex subunits DKC1, NOP10, NHP2 and GAR1, and a telomerase RNA template component (TERC) (PubMed:19179534, PubMed:20351177, PubMed:29695869). The telomerase holoenzyme complex is associated with TEP1, SMG6/EST1A and POT1 (PubMed:19179534).5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NHP2Q9NX248EBI-1642169,EBI-1050064

Protein-protein interaction databases

BioGridi120685, 32 interactors
ComplexPortaliCPX-265 Telomerase holoenzyme complex
CORUMiQ9NPE3
DIPiDIP-40092N
IntActiQ9NPE3, 24 interactors
MINTiQ9NPE3
STRINGi9606.ENSP00000332198

Structurei

3D structure databases

ProteinModelPortaliQ9NPE3
SMRiQ9NPE3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NOP10 family.Curated

Phylogenomic databases

eggNOGiKOG3503 Eukaryota
COG2260 LUCA
GeneTreeiENSGT00390000012563
HOGENOMiHOG000159681
HOVERGENiHBG080280
InParanoidiQ9NPE3
KOiK11130
OMAiHLMYTLG
OrthoDBiEOG091G1AP5
PhylomeDBiQ9NPE3
TreeFamiTF300211

Family and domain databases

Gene3Di2.20.28.40, 1 hit
InterProiView protein in InterPro
IPR007264 H/ACA_rnp_Nop10
IPR036756 H/ACA_rnp_Nop10_sf
PANTHERiPTHR13305 PTHR13305, 1 hit
PfamiView protein in Pfam
PF04135 Nop10p, 1 hit
SUPFAMiSSF144210 SSF144210, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9NPE3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MFLQYYLNEQ GDRVYTLKKF DPMGQQTCSA HPARFSPDDK YSRHRITIKK
60
RFKVLMTQQP RPVL
Length:64
Mass (Da):7,706
Last modified:October 1, 2000 - v1
Checksum:i62E9BCFFB27036FA
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YM60H0YM60_HUMAN
H/ACA ribonucleoprotein complex sub...
NOP10
36Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04372534R → W in DKCB1. 1 PublicationCorresponds to variant dbSNP:rs121908092EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB043103 Genomic DNA Translation: BAA96107.1
AB043104 mRNA Translation: BAA96133.1
BC008886 mRNA Translation: AAH08886.1
BC063023 mRNA Translation: AAH63023.1
CCDSiCCDS10037.1
RefSeqiNP_061118.1, NM_018648.3
UniGeneiHs.14317

Genome annotation databases

EnsembliENST00000328848; ENSP00000332198; ENSG00000182117
GeneIDi55505
KEGGihsa:55505
UCSCiuc001zie.2 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB043103 Genomic DNA Translation: BAA96107.1
AB043104 mRNA Translation: BAA96133.1
BC008886 mRNA Translation: AAH08886.1
BC063023 mRNA Translation: AAH63023.1
CCDSiCCDS10037.1
RefSeqiNP_061118.1, NM_018648.3
UniGeneiHs.14317

3D structure databases

ProteinModelPortaliQ9NPE3
SMRiQ9NPE3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120685, 32 interactors
ComplexPortaliCPX-265 Telomerase holoenzyme complex
CORUMiQ9NPE3
DIPiDIP-40092N
IntActiQ9NPE3, 24 interactors
MINTiQ9NPE3
STRINGi9606.ENSP00000332198

PTM databases

iPTMnetiQ9NPE3
PhosphoSitePlusiQ9NPE3

Polymorphism and mutation databases

BioMutaiNOP10
DMDMi54036209

Proteomic databases

EPDiQ9NPE3
MaxQBiQ9NPE3
PaxDbiQ9NPE3
PeptideAtlasiQ9NPE3
PRIDEiQ9NPE3
ProteomicsDBi81979
TopDownProteomicsiQ9NPE3

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328848; ENSP00000332198; ENSG00000182117
GeneIDi55505
KEGGihsa:55505
UCSCiuc001zie.2 human

Organism-specific databases

CTDi55505
DisGeNETi55505
EuPathDBiHostDB:ENSG00000182117.5
GeneCardsiNOP10
GeneReviewsiNOP10
HGNCiHGNC:14378 NOP10
HPAiHPA059198
MalaCardsiNOP10
MIMi224230 phenotype
606471 gene
neXtProtiNX_Q9NPE3
OpenTargetsiENSG00000182117
Orphaneti1775 Dyskeratosis congenita
PharmGKBiPA164723973
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3503 Eukaryota
COG2260 LUCA
GeneTreeiENSGT00390000012563
HOGENOMiHOG000159681
HOVERGENiHBG080280
InParanoidiQ9NPE3
KOiK11130
OMAiHLMYTLG
OrthoDBiEOG091G1AP5
PhylomeDBiQ9NPE3
TreeFamiTF300211

Enzyme and pathway databases

ReactomeiR-HSA-6790901 rRNA modification in the nucleus and cytosol

Miscellaneous databases

ChiTaRSiNOP10 human
GenomeRNAii55505
PROiPR:Q9NPE3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182117 Expressed in 228 organ(s), highest expression level in oocyte
CleanExiHS_NOP10
ExpressionAtlasiQ9NPE3 baseline and differential
GenevisibleiQ9NPE3 HS

Family and domain databases

Gene3Di2.20.28.40, 1 hit
InterProiView protein in InterPro
IPR007264 H/ACA_rnp_Nop10
IPR036756 H/ACA_rnp_Nop10_sf
PANTHERiPTHR13305 PTHR13305, 1 hit
PfamiView protein in Pfam
PF04135 Nop10p, 1 hit
SUPFAMiSSF144210 SSF144210, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNOP10_HUMAN
AccessioniPrimary (citable) accession number: Q9NPE3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2004
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 140 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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