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NOP10 Gene

protein-coding   GIFtS: 50

GC15M032422
NOP10 ribonucleoprotein homolog (yeast)
(Previous names: nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: NOLA3)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
MGC70651 1, 2
NOLA3 2, 3, 5
NOP10P 1, 2
Descriptions
NOP10 ribonucleoprotein homolog (yeast) 2
Nucleolar protein 10 3
Nucleolar protein family A member 3 3
homolog of yeast Nop10p 2
nucleolar protein family A, member 3 2
nucleolar protein family A, member 3 (H/ACA small nucleolar
RNPs) 1, 2
snoRNP protein NOP10 3
External Ids
HGNC: 143781
Entrez Gene: 555052
UniProtKB: Q9NPE33
Ensembl: ENSG000001821177
Search outside databases for aliases for NOP10 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for NOP10:
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]

UniProtKB/Swiss-Prot: NOP10_HUMAN, Q9NPE3
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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q14-q15   Ensembl cytogenetic band:  15q14   HGNC cytogenetic band: 15q14-q15

NOP10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M032422:     (about GC identifiers)

Start:
32,421,209 bp from pter
End:
32,422,654 bp from pter
Size:
1,446 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000015.8  NT_010194.16  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: NOP10_HUMAN, Q9NPE3 (See protein sequence)
Recommended Name: H/ACA ribonucleoprotein complex subunit 3  
Size: 64 amino acids; 7706 Da
Subunit: 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,
SIP1/GEMIN2, 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, WDR79/TCAB1, NOP10, NHP2,
GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC)
Subcellular location: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies
(coiled bodies)

REFSEQ proteins: NP_061118.1  

ENSEMBL proteins: 
ENSP00000332198 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Human Recombinant Proteins from Abnova (NOLA3)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IEA--
GO:0005732 small nucleolar ribonucleoprotein complex TAS9843512
About this table

Antibodies for NOP10: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for NOP10

Assays for NOP10: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

1 InterPro domain/family:
 IPR007264 Nop10p_RNA_bd


   GeneDecks  NOP10 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9NPE3

ProtoNet protein and cluster: Q9NPE3

1 Blocks protein family: IPB007264 Nucleolar RNA-binding protein Nop10p

UniProtKB/Swiss-Prot: NOP10_HUMAN, Q9NPE3
Similarity: Belongs to the NOP10 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (NOP10)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC063023

              Applied Biosystems Silencer® siRNAs for NOP10

              Sigma-Aldrich siRNA for NOP10  
                     Sigma-Aldrich shRNA for NOP10  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_018648
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_018648
                                 untagged cDNA clones in CMV expression vector (see all 2): BC063023 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_018648

UniProtKB/Swiss-Prot: NOP10_HUMAN, Q9NPE3
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

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003674 molecular_function ND9843512
GO:0005515 protein binding IPI16601202
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


 Gene Network CentralTM Interacting Genes and Proteins Network for  NOP10 


5/9 Interacting proteins for NOP10 (ENSP000003321983) via UniProtKB, MINT, and/or STRING (see all 9 )
InteractantInteraction Details
GeneCardExternal ID(s)
DKC1ENSP000003585633STRING (score=.974)
GAR1ENSP000002267963STRING (score=.974)
NHP2ENSP000002746063STRING (score=.968)
TERTENSP000003095723STRING (score=.876)
FBLENSP000002218013STRING (score=.781)
About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0001522 pseudouridine synthesis NAS9843512
GO:0006364 rRNA processing IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for NOP10
1 Novoseek chemical compound relationship for NOP10 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
pseudouridine 85.00 3 17855403 (1), 17412831 (1), 16373493 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (NOP10)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC063023

              Sigma-Aldrich siRNA for NOP10  
                     Sigma-Aldrich shRNA for NOP10  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_018648  

REFSEQ mRNAs for NOP10 gene: 

NM_018648.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_018648  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_018648
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_018648
                                 untagged cDNA clones in CMV expression vector (see all 2): BC063023 

Additional cDNA sequence: 

AB043104.1 BC008886.2 BC063023.1 CR612859.1 

9 DOTS entries:

DT.319408  DT.121064740  DT.91759139  DT.95273853  DT.86854773  DT.91759143  DT.92325594  DT.121064739 
DT.97867251 

24/335 AceView cDNA sequences (see all 335 ):

BQ438156 BM855633 D59910 BP431793 CR612859 BE261748 AA112121 AA156862 
AA319189 AA083998 AA934691 D80676 AA398357 AA905911 AA022749 BE877608 
CA453345 AI718796 BC008886 W84570 BU728962 AA781774 AA371607 BM916715 

Unigene Cluster for NOP10:

NOP10 ribonucleoprotein homolog (yeast)
Hs.14317  [show with all ESTs]
Unigene Representative Sequence: CF596384


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000328848  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

NOP10 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for NOP10

1 / 2

4 probe-sets matching NOP10 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

74609_at2 U95-D 2 1.00 0.97 0.96 1.03 -- -- -- -- --

91722_at2 U95-E 2 1.00 0.91 0.94 0.97 -- -- -- -- --

217962_at2 U133-A 2 1.00 0.95 -- -- -- -- -- -- --

217962_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GTGGCATCAC

SOURCE GeneReport for Unigene cluster: Hs.14317
(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for NOP10 gene from 5/12 species (see all 12 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
NOP101   -- NOP10 ribonucleoprotein homolog (yeast) 90.1(n)
96.87(a)
607299  XM_843924.1  XP_849017.1 
chimpanzee
(Pan troglodytes)
NOP101   -- NOP10 ribonucleoprotein homolog (yeast) 99.48(n)
100(a)
746535  XM_001165865.1  XP_001165865.1 
cow
(Bos taurus)
NOP101   -- NOP10 ribonucleoprotein homolog (yeast) 91.67(n)
95.31(a)
616675  XM_868763.2  XP_873856.1 
rat
(Rattus norvegicus)
Nola31   -- nucleolar protein family A, member 3 94.79(n)
100(a)
691534  XM_001078710.1  XP_001078710.1 
mouse
(Mus musculus)
Nop101, 5 25
NOP10 ribonucleoprotein homolog (yeast)1, 5 94.27(n)1
100(a)1
661811  NM_025403.21  NP_079679.11 
 AK0041205  AK0128755  (see all 7)
About this table        Species with no ortholog for NOP10

ENSEMBL Gene Tree for NOP10
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for NOP10 gene
ENSG000001989232  

Pseudogenes
1 related pseudogene


(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/29 NCBI SNPs in NOP10 are shown (see all 29 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 31)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 15 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
--
rs30631,2
A,C,F,H32421325(+) AGCATA/GATCAA 1 -- ut315Minor allele frequency- G:0.21MN EU EA 492
rs21694801,2
A,C,F,H32422661(+) CCTGCA/GTAACC 1 -- ng31 tfbs312Minor allele frequency- G:0.06EU EA WA 1258
--
rs10452041,2
A,C,F32421430(-) TGCCAC/TCTGTT 1 -- ut31 ese31Minor allele frequency- T:0.11MN 184
rs3478381,2
A,C,F32420903(+) TGTCTG/ATAATA 1 -- ng514Minor allele frequency- A:0.22EA NA 152
rs10452381,2
A,F32421416(-) CCTCGG/CAGACT 1 -- ut311Minor allele frequency- C:0.17MN 184
--
rs10451941,2
A,C32421431(-) CTGCCA/GCCTGT 1 -- ut31 ese31Minor allele frequency- G:0.00MN 184
--
rs71731,2
C32421312(+) ATTGCC/TTCACA 1 -- ut31 ese31Minor allele frequency- T:0.00MN 184
--
rs151171,2
F32421304(+) CCACCA/TTGATT 1 -- ut311Minor allele frequency- T:0.05MN 184
--
rs128181,2
C32421311(+) GATTGC/TCTCAC 1 -- ut31 ese31Minor allele frequency- T:0.00MN 184
rs4223881,2
A,C,F,H32421616(-) ATTCTG/CTGTTC 1 -- int14Minor allele frequency- C:0.44EU EA WA 412
About this table

HapMap Linkage Disequilibrium images for NOP10 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 606471   disorders: 224230  

UniProtKB/Swiss-Prot: NOP10_HUMAN, Q9NPE3

  • Defects in NOP10 are a cause of dyskeratosis congenita autosomal recessive (ARDKC)
    [MIM:224230]. ARDKC is a rare, progressive bone marrow failure syndrome characterized by the triad
    of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is
    often associated with bone marrow failure, infections, fatal pulmonary complications, or
    malignancy
  • 1 Novoseek disease relationship for NOP10 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    dyskeratosis congenita 94.32 3 18239083 (1), 18989882 (1), 18252230 (1)
    About this table

    Human Genome Epidemiology Navigator: NOP10 (3 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/30 PubMed articles for NOP10 gene (see all 30 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 55505 HGNC: 14378 AceView: NOLA3 Ensembl:ENSG00000182117 euGenes: HUgn55505
    ECgene: NOP10 H-InvDB: NOP10
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for NOP10:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Millipore Immunoassay Services
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     Predesigned and custom siRNAs for NOP10 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for NOP10 Browse small molecules at Sigma-Aldrich
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