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Q9NPE3

- NOP10_HUMAN

UniProt

Q9NPE3 - NOP10_HUMAN

Protein

H/ACA ribonucleoprotein complex subunit 3

Gene

NOP10

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
  1. 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

    1. protein binding Source: UniProtKB
    2. snoRNA binding Source: InterPro

    GO - Biological processi

    1. pseudouridine synthesis Source: UniProtKB
    2. rRNA processing Source: UniProtKB-KW

    Keywords - Molecular functioni

    Ribonucleoprotein

    Keywords - Biological processi

    Ribosome biogenesis, rRNA processing

    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
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:14378. NOP10.

    Subcellular locationi

    Nucleusnucleolus 1 Publication. NucleusCajal body 1 Publication
    Note: Also localized to Cajal bodies (coiled bodies).

    GO - Cellular componenti

    1. box H/ACA RNP complex Source: InterPro
    2. Cajal body Source: UniProtKB-SubCell
    3. nucleolus Source: UniProtKB-SubCell
    4. small nucleolar ribonucleoprotein complex Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti34 – 341R → W in DKCB1. 1 Publication
    VAR_043725

    Keywords - Diseasei

    Disease mutation, Dyskeratosis congenita

    Organism-specific databases

    MIMi224230. phenotype.
    Orphaneti1775. Dyskeratosis congenita.
    PharmGKBiPA164723973.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 6464H/ACA ribonucleoprotein complex subunit 3PRO_0000149001Add
    BLAST

    Proteomic databases

    MaxQBiQ9NPE3.
    PaxDbiQ9NPE3.
    PeptideAtlasiQ9NPE3.
    PRIDEiQ9NPE3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NPE3.
    BgeeiQ9NPE3.
    CleanExiHS_NOP10.
    GenevestigatoriQ9NPE3.

    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. 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).3 Publications

    Protein-protein interaction databases

    BioGridi120685. 12 interactions.
    DIPiDIP-40092N.
    IntActiQ9NPE3. 9 interactions.
    MINTiMINT-3071720.
    STRINGi9606.ENSP00000332198.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NPE3.
    SMRiQ9NPE3. Positions 1-48.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the NOP10 family.Curated

    Phylogenomic databases

    eggNOGiCOG2260.
    HOGENOMiHOG000159681.
    HOVERGENiHBG080280.
    InParanoidiQ9NPE3.
    KOiK11130.
    OMAiFLISPAP.
    OrthoDBiEOG79CZ2H.
    PhylomeDBiQ9NPE3.
    TreeFamiTF300211.

    Family and domain databases

    InterProiIPR007264. H/ACA_rnp_Nop10.
    [Graphical view]
    PANTHERiPTHR13305. PTHR13305. 1 hit.
    PfamiPF04135. Nop10p. 1 hit.
    [Graphical view]
    SUPFAMiSSF144210. SSF144210. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9NPE3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MFLQYYLNEQ GDRVYTLKKF DPMGQQTCSA HPARFSPDDK YSRHRITIKK   50
    RFKVLMTQQP RPVL 64
    Length:64
    Mass (Da):7,706
    Last modified:October 1, 2000 - v1
    Checksum:i62E9BCFFB27036FA
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti34 – 341R → W in DKCB1. 1 Publication
    VAR_043725

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.1. human.

    Polymorphism databases

    DMDMi54036209.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB043103 Genomic DNA. Translation: BAA96107.1 .
    AB043104 mRNA. Translation: BAA96133.1 .
    BC008886 mRNA. Translation: AAH08886.1 .
    BC063023 mRNA. Translation: AAH63023.1 .
    CCDSi CCDS10037.1.
    RefSeqi NP_061118.1. NM_018648.3.
    UniGenei Hs.14317.

    3D structure databases

    ProteinModelPortali Q9NPE3.
    SMRi Q9NPE3. Positions 1-48.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120685. 12 interactions.
    DIPi DIP-40092N.
    IntActi Q9NPE3. 9 interactions.
    MINTi MINT-3071720.
    STRINGi 9606.ENSP00000332198.

    Polymorphism databases

    DMDMi 54036209.

    Proteomic databases

    MaxQBi Q9NPE3.
    PaxDbi Q9NPE3.
    PeptideAtlasi Q9NPE3.
    PRIDEi Q9NPE3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000328848 ; ENSP00000332198 ; ENSG00000182117 .
    GeneIDi 55505.
    KEGGi hsa:55505.
    UCSCi uc001zie.1. human.

    Organism-specific databases

    CTDi 55505.
    GeneCardsi GC15M034633.
    GeneReviewsi NOP10.
    HGNCi HGNC:14378. NOP10.
    HPAi HPA059198.
    MIMi 224230. phenotype.
    606471. gene.
    neXtProti NX_Q9NPE3.
    Orphaneti 1775. Dyskeratosis congenita.
    PharmGKBi PA164723973.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2260.
    HOGENOMi HOG000159681.
    HOVERGENi HBG080280.
    InParanoidi Q9NPE3.
    KOi K11130.
    OMAi FLISPAP.
    OrthoDBi EOG79CZ2H.
    PhylomeDBi Q9NPE3.
    TreeFami TF300211.

    Miscellaneous databases

    GenomeRNAii 55505.
    NextBioi 59899.
    PROi Q9NPE3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NPE3.
    Bgeei Q9NPE3.
    CleanExi HS_NOP10.
    Genevestigatori Q9NPE3.

    Family and domain databases

    InterProi IPR007264. H/ACA_rnp_Nop10.
    [Graphical view ]
    PANTHERi PTHR13305. PTHR13305. 1 hit.
    Pfami PF04135. Nop10p. 1 hit.
    [Graphical view ]
    SUPFAMi SSF144210. SSF144210. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. 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.

    Entry informationi

    Entry nameiNOP10_HUMAN
    AccessioniPrimary (citable) accession number: Q9NPE3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 11, 2004
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 104 of the entry and version 1 of the sequence. [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. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3