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Q9NPE3 (NOP10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
H/ACA ribonucleoprotein complex subunit 3
Alternative name(s):
Nucleolar protein 10
Nucleolar protein family A member 3
snoRNP protein NOP10
Gene names
Name:NOP10
Synonyms:NOLA3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length64 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. 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. Ref.4

Subunit structure

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. 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. The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate. During assembly, the complex contains NAF1 instead of GAR1/NOLA1. The complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Ref.3 Ref.5 Ref.6

Subcellular location

Nucleusnucleolus. NucleusCajal body. Note: Also localized to Cajal bodies (coiled bodies). Ref.3

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Belongs to the NOP10 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 6464H/ACA ribonucleoprotein complex subunit 3
PRO_0000149001

Natural variations

Natural variant341R → W in DKCB1. Ref.9
VAR_043725

Sequences

Sequence LengthMass (Da)Tools
Q9NPE3 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 62E9BCFFB27036FA

FASTA647,706
        10         20         30         40         50         60 
MFLQYYLNEQ GDRVYTLKKF DPMGQQTCSA HPARFSPDDK YSRHRITIKK RFKVLMTQQP 


RPVL 

« Hide

References

« Hide 'large scale' references
[1]Toji S., Yano M., Tamai K.
Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: B-cell and Pancreas.
[3]"Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10."
Pogacic V., Dragon F., Filipowicz W.
Mol. Cell. Biol. 20:9028-9040(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH GAR1; NHP2 AND DCK1.
[4]"Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins."
Wang C., Meier U.T.
EMBO J. 23:1857-1867(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, CHARACTERIZATION OF THE H/ACA SNORNP COMPLEX.
[5]"hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase."
Hoareau-Aveilla C., Bonoli M., Caizergues-Ferrer M., Henry Y.
RNA 12:832-840(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NAF1.
[6]"A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis."
Venteicher A.S., Abreu E.B., Meng Z., McCann K.E., Terns R.M., Veenstra T.D., Terns M.P., Artandi S.E.
Science 323:644-648(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE TELOMERASE HOLOENZYME COMPLEX.
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10."
Walne A.J., Vulliamy T., Marrone A., Beswick R., Kirwan M., Masunari Y., Al-Qurashi F.-H., Aljurf M., Dokal I.
Hum. Mol. Genet. 16:1619-1629(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DKCB1 TRP-34.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB043103 Genomic DNA. Translation: BAA96107.1.
AB043104 mRNA. Translation: BAA96133.1.
BC008886 mRNA. Translation: AAH08886.1.
BC063023 mRNA. Translation: AAH63023.1.
CCDSCCDS10037.1.
RefSeqNP_061118.1. NM_018648.3.
UniGeneHs.14317.

3D structure databases

ProteinModelPortalQ9NPE3.
SMRQ9NPE3. Positions 1-48.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120685. 10 interactions.
DIPDIP-40092N.
IntActQ9NPE3. 9 interactions.
MINTMINT-3071720.
STRING9606.ENSP00000332198.

Polymorphism databases

DMDM54036209.

Proteomic databases

MaxQBQ9NPE3.
PaxDbQ9NPE3.
PeptideAtlasQ9NPE3.
PRIDEQ9NPE3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000328848; ENSP00000332198; ENSG00000182117.
GeneID55505.
KEGGhsa:55505.
UCSCuc001zie.1. human.

Organism-specific databases

CTD55505.
GeneCardsGC15M034633.
GeneReviewsNOP10.
HGNCHGNC:14378. NOP10.
HPAHPA059198.
MIM224230. phenotype.
606471. gene.
neXtProtNX_Q9NPE3.
Orphanet1775. Dyskeratosis congenita.
PharmGKBPA164723973.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2260.
HOGENOMHOG000159681.
HOVERGENHBG080280.
InParanoidQ9NPE3.
KOK11130.
OMAFLISPAP.
OrthoDBEOG79CZ2H.
PhylomeDBQ9NPE3.
TreeFamTF300211.

Gene expression databases

ArrayExpressQ9NPE3.
BgeeQ9NPE3.
CleanExHS_NOP10.
GenevestigatorQ9NPE3.

Family and domain databases

InterProIPR007264. H/ACA_rnp_Nop10.
[Graphical view]
PANTHERPTHR13305. PTHR13305. 1 hit.
PfamPF04135. Nop10p. 1 hit.
[Graphical view]
SUPFAMSSF144210. SSF144210. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi55505.
NextBio59899.
PROQ9NPE3.
SOURCESearch...

Entry information

Entry nameNOP10_HUMAN
AccessionPrimary (citable) accession number: Q9NPE3
Entry history
Integrated into UniProtKB/Swiss-Prot: October 11, 2004
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 102 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM