NOP10 Gene
protein-coding GIFtS : 51
GC15M011497
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 & Descriptionsfor NOP10 gene
(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 Aliases & Descriptions NOP10 ribonucleoprotein homolog (yeast)1 2 Nucleolar protein family A member 32 3 NOLA32 3 5 Nucleolar protein 102 3 nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)1 2 snoRNP protein NOP102 3 NOP10P1 2 homolog of yeast Nop10p2 MGC706511 2 H/ACA ribonucleoprotein complex subunit 32
Export aliases for NOP10 gene to outside databases Previous GC identifers: GC15M032422 GC15M034633
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Summariesfor NOP10 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene 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 nucleolarribonucleoprotein (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
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Genomic Viewsfor NOP10 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for NOP10 Other transcription factors Search SABiosciences Chromatin IP Primers for NOP10 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays
Genomic Location: 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 GC15M011497: view genomic region
(about GC identifiers )
Start:
11,497,261 bp from pter
End:
11,498,790 bp from pter
Size:
1,530 bases
Orientation:
minus strand
1 alternative location : Chr 15- 34,633,914-34,635,378
RefSeq DNA sequence: NC_000015.9 NT_010194.17
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Proteinsfor NOP10 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
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, WRAP53/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)Explore the universe of human proteins at neXtProt for NOP10: NX_Q9NPE3
REFSEQ proteins: NP_061118.1 ENSEMBL proteins: ENSP00000332198 Human Recombinant Proteins 4 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
About this table
NOP10 for ontologies About GeneDecksing Antibodies for NOP10: Assays for NOP10:
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Protein
Domains/ Familiesfor NOP10 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
NOP10 for domains About GeneDecksing 1 InterPro domain/family :
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
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Gene Functionfor NOP10 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: NOP10_HUMAN, Q9NPE3 Function : Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolarribonucleoprotein (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 Gene Ontology (GO) molecular function term (GO ID links to tree view) :
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NOP10 for ontologies About GeneDecksing
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Pathways & Interactionsfor NOP10 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section
NOP10 for pathways About GeneDecksing 1 Kegg Pathway (Kegg details for NOP10) : SABiosciences Custom Pathway-Focused PCR Arrays for NOP10 SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NOP10 2 Gene Ontology (GO) biological process terms (GO ID links to tree view) :
About this table
NOP10 for ontologies About GeneDecksing
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Drugs & Compoundsfor NOP10 gene (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
NOP10 for compounds About GeneDecksing Browse Tocris compounds for NOP10 2 Novoseek chemical compound relationships for NOP10 gene
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Transcriptsfor NOP10 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
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
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for NOP10 gene: NM_018648.3
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 ):
CR612859 H83558 AA156862 BU728962 AA934691 BM846103 CA453345 H78197 W84570 BU541623 BP431793 AA083998 H78183 AI583242 AI695124 AA293783 AI718796 AA035030 BE877608 AA398357 AA112121 BC008886 AA905911 BM826533 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, and UCSC links where relevant : ENST00000328848 (uc001zie.1 )
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Expression for NOP10 gene
(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 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section NOP10 expression in normal and diseased human tissues 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
0.88
0.96
0.96
1.03
--
--
--
--
--
91722_at2
U95-E
2
0.69
0.95
0.94
0.97
--
--
--
--
--
217962_at2
U133-A
1
0.91
1.00
--
--
--
--
--
--
--
217962_at2
U133Plus2
1
0.91
1.00
--
--
--
--
--
--
--
About this table
NOP10 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GTGGCATCAC SOURCE GeneReport for Unigene cluster: Hs.14317 SABiosciences Custom PCR Arrays for NOP10
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Orthologsfor NOP10 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
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 )
About this table Species with no ortholog for NOP10 ENSEMBL Gene Tree for NOP10 (if available)
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Paralogsfor NOP10 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for NOP10 gene LOC100289143 2
NOP10 for paralogs About GeneDecksing Pseudogenes 1 related pseudogene
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Genomic Variantsfor NOP10 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 15 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for NOP10 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 4 variations for NOP10 4 CNVs : 0783 0187 3957 7058
QIAGEN SeqTarget long-range PCR primers for resequencing NOP10
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Disorders & Mutationsfor NOP10 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
NOP10 for disorders About GeneDecksing
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
About this table Locus Specific Mutation Databases (LSDB): NOP10 Human Gene Mutation Database (HGMD) : NOP10 Human Genome Epidemiology (HuGE) Navigator: NOP10 (3 documents) Export disorders and mutations for NOP10 gene to outside databases
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Medical Newsfor NOP10 gene (Possibly Related Articles in
Doctor's Guide )
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Publicationsfor NOP10 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/35 PubMed articles for NOP10 gene, integrated from 7 sources (see all 35 ): (articles sorted by number of sources associating them with NOP10) Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. (PubMed id 11074001) 1 , 2 , 3, 7 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 , 2 , 7 Walne A.J....Dokal I. (2007) hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase. (PubMed id 16601202) 1 , 2 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) 1 , 2 Gerhard D.S....Malek J. (2004) Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins. (PubMed id 15044956) 1 , 2 Wang C. and Meier U.T. (2004) Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs. (PubMed id 9843512) 1 , 3 Henras A....Caizergues-Ferrer M. (1998) Effects of dyskeratosis congenita mutations in dysker in, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. (PubMed id 20008900) 1 , 7 Trahan C....Dragon F. (2010) Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. (PubMed id 15814878) 1 , 7 Yamaguchi H.... Young N.S. (2005) A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. (PubMed id 19179534) 2 Venteicher A.S.... Artandi S.E. (2009) Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732) 1 Sowa M.E....Harper J.W. (2009)
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External Searches for NOP10 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing NOP10 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing NOP10 gene
(According to HUGE )
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Specialized Databases showing NOP10 gene (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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About This Section Patent Information for NOP10 gene: Search GeneIP for patents involving NOP10 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor NOP10 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Search Tocris compounds for NOP10
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Expression for NOP10
Function for NOP10
Genomic Views for NOP10
Intellectual Property for NOP10
Medical News for NOP10
Orthologs for NOP10
Paralogs for NOP10
Pathways/Interactions for NOP10
Products for NOP10
Proteins for NOP10
Publications for NOP10
Search Box for NOP10
Summaries for NOP10
Transcripts for NOP10
Variants for NOP10
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