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 )
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Aliases & Descriptions for NOP10
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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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
Search outside databases for aliases for NOP10 gene
Summaries for NOP10 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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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 beenclassified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 andNOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components ofnucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNApseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNPproteins are also components of the telomerase complex. This gene encodes a protein related toSaccharomyces cerevisiae Nop10p. [provided by RefSeq] UniProtKB/Swiss-Prot: NOP10_HUMAN, Q9NPE3 Function : Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA smallnucleolar 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, whichmay serve to stabilize the conformation of rRNAs. May also be required for correct processing orintranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT)holoenzyme
Genomic Location for NOP10
(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
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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 Proteins for NOP10
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 )
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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 containsNHP2/NOLA2, GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalyticsubunit. The complex contains a stable core formed by binding of one or two NOP10-DKC1heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1. The complex binds a box H/ACAsmall nucleolar RNA (snoRNA), which may target the specific site of modification within the RNAsubstrate. During assembly, the complex contains NAF1 instead of GAR1/NOLA1. The complex alsointeracts 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 withNOLC1/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 orSMN2. The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Componentof 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 Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for NOP10: Assays for NOP10:
Protein
Domains/ Families for NOP10(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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
Gene Function for NOP10
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
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Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               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               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 smallnucleolar 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, whichmay serve to stabilize the conformation of rRNAs. May also be required for correct processing orintranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT)holoenzyme
2 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for NOP10
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for NOP10 5/9 Interacting proteins for NOP10 (ENSP00000332198 3 ) via UniProtKB, MINT, and/or STRING (see all 9
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for NOP10 (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 )
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Browse Tocris compounds for NOP10 1 Novoseek chemical compound relationship for NOP10 gene
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Transcripts for NOP10(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
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OriGene ,
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               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
Expression for NOP10
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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NOP10 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for NOP10 1 / 2
4 probe-sets matching NOP10 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GTGGCATCACSOURCE GeneReport for Unigene cluster: Hs.14317
Orthologs for NOP10
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for NOP10 gene from 5/12 species (see all 12
)
About this table Species with no ortholog for NOP10 ENSEMBL Gene Tree for NOP10 Paralogs for NOP10 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for NOP10 gene ENSG00000198923 2 Pseudogenes 1 related pseudogene
SNPs/Variants for NOP10 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for NOP10 (up to first 250kb)
Disorders & Mutations for NOP10
(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 .)
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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 triadof reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality isoften associated with bone marrow failure, infections, fatal pulmonary complications, ormalignancy
1 Novoseek disease relationship for NOP10 gene
About this table Human Genome Epidemiology Navigator: NOP10 (3 documents)
Medical News for NOP10 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for NOP10 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/30 PubMed articles for NOP10 gene (see all 30
): Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. (PubMed id 11074001) 1, 2, 3, 4 Pogacic V.... Filipowicz W. (2000) Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. (PubMed id 17507419) 1, 3, 4 Walne A.J....Dokal I. (2007) hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase. (PubMed id 16601202) 3, 4 Hoareau-Aveilla C....Henry Y. (2006) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins. (PubMed id 15044956) 3, 4 Wang C. and Meier U.T. (2004) Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs. (PubMed id 9843512) 2, 3 Henras A....Caizergues-Ferrer M. (1998) Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. (PubMed id 15814878) 1, 3 Yamaguchi H.... Young N.S. (2005) A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. (PubMed id 19179534) 4 Venteicher A.S.... Artandi S.E. (2009) Nucleolar proteome dynamics. (PubMed id 15635413) 3 Andersen J.S....Mann M. (2005) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 3 Strausberg R.L....Marra M.A. (2002)
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Genome Databases showing NOP10
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing NOP10
(According to HUGE )
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--
Specialized Databases showing NOP10 (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
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-- Services for NOP10 (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
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