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NOP10 Gene(Protein Coding)

NOP10 Ribonucleoprotein

GCID:
GC15M034341
GIFtS:
58
Genes Participants
UDN Logo

Aliases for NOP10 Gene

Aliases for NOP10 Gene

  • NOP10 Ribonucleoprotein 2 3 5
  • Nucleolar Protein Family A, Member 3 (H/ACA Small Nucleolar RNPs) 2 3
  • Nucleolar Protein Family A Member 3 3 4
  • Homolog Of Yeast Nop10p 2 3
  • Nucleolar Protein 10 3 4
  • SnoRNP Protein NOP10 3 4
  • NOLA3 3 4
  • NOP10 Ribonucleoprotein Homolog (Yeast) 2
  • NOP10 Ribonucleoprotein Homolog 3
  • NOP10P 3
  • DKCB1 3

External Ids for NOP10 Gene

Previous HGNC Symbols for NOP10 Gene

  • NOLA3

Previous GeneCards Identifiers for NOP10 Gene

  • GC15M032422
  • GC15M034633
  • GC15M011497

Summaries for NOP10 Gene

Entrez Gene Summary for NOP10 Gene

  • 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, Jul 2008]

GeneCards Summary for NOP10 Gene

NOP10 (NOP10 Ribonucleoprotein) is a Protein Coding gene. Diseases associated with NOP10 include Dyskeratosis Congenita, Autosomal Recessive 1 and Dyskeratosis Congenita. Among its related pathways are Gene Expression and rRNA processing. GO annotations related to this gene include snoRNA binding.

UniProtKB/Swiss-Prot for NOP10 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOP10 Gene

Genomics for NOP10 Gene

Products:

  1. Regulatory Element

Regulatory Elements for NOP10 Gene

Enhancers for NOP10 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NOP10 on UCSC Golden Path with GeneCards custom track

Promoters for NOP10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NOP10 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the NOP10 gene promoter:

Genomic Location for NOP10 Gene

Chromosome:
15
Start:
34,341,713 bp from pter
End:
34,343,177 bp from pter
Size:
1,465 bases
Orientation:
Minus strand

Genomic View for NOP10 Gene

Genes around NOP10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOP10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOP10 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NOP10 Gene

Proteins for NOP10 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for NOP10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPE3-NOP10_HUMAN
    Recommended name:
    H/ACA ribonucleoprotein complex subunit 3
    Protein Accession:
    Q9NPE3

    Protein attributes for NOP10 Gene

    Size:
    64 amino acids
    Molecular mass:
    7706 Da
    Quaternary 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).

neXtProt entry for NOP10 Gene

Proteomics data for NOP10 Gene at MOPED

Protein Expression for NOP10 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NOP10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NOP10 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NOP10 Gene

Domains & Families for NOP10 Gene

Gene Families for NOP10 Gene

HGNC:

Protein Domains for NOP10 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NOP10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPE3

UniProtKB/Swiss-Prot:

NOP10_HUMAN :
  • Belongs to the NOP10 family.
Family:
  • Belongs to the NOP10 family.
genes like me logo Genes that share domains with NOP10: view

Function for NOP10 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for NOP10 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for NOP10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16601202
genes like me logo Genes that share ontologies with NOP10: view

Phenotypes for NOP10 Gene

GenomeRNAi human phenotypes for NOP10:
genes like me logo Genes that share phenotypes with NOP10: view

Human Phenotype Ontology for NOP10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for NOP10 Gene

miRTarBase miRNAs that target NOP10

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NOP10 Gene

Localization for NOP10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOP10 Gene

Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NOP10 Gene COMPARTMENTS Subcellular localization image for NOP10 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for NOP10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0031429 box H/ACA snoRNP complex TAS 22527283
GO:0072588 box H/ACA RNP complex IEA --
GO:0072589 box H/ACA scaRNP complex TAS 22527283
genes like me logo Genes that share ontologies with NOP10: view

Pathways & Interactions for NOP10 Gene

genes like me logo Genes that share pathways with NOP10: view

Pathways by source for NOP10 Gene

1 KEGG pathway for NOP10 Gene

Gene Ontology (GO) - Biological Process for NOP10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IEA --
GO:0031118 rRNA pseudouridine synthesis TAS --
GO:1904874 positive regulation of telomerase RNA localization to Cajal body IMP 25467444
genes like me logo Genes that share ontologies with NOP10: view

No data available for SIGNOR curated interactions for NOP10 Gene

Drugs & Compounds for NOP10 Gene

Products:

  1. Drug

(1) Drugs for NOP10 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for NOP10 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NOP10: view

Transcripts for NOP10 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for NOP10 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(335) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NOP10 Gene

NOP10 ribonucleoprotein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NOP10 Gene

No ASD Table

Relevant External Links for NOP10 Gene

GeneLoc Exon Structure for
NOP10
ECgene alternative splicing isoforms for
NOP10

Expression for NOP10 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for NOP10 Gene

mRNA expression in normal human tissues for NOP10 Gene
mRNA expression by BioGPS for NOP10 GenemRNA expression by GTEx for NOP10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NOP10 Gene

This gene is overexpressed in Whole Blood (x6.2).

Protein differential expression in normal tissues from HIPED for NOP10 Gene

This gene is overexpressed in Blymphocyte (12.6), Hair follicle (12.3), and Placenta (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NOP10 Gene



SOURCE GeneReport for Unigene cluster for NOP10 Gene Hs.14317

genes like me logo Genes that share expression patterns with NOP10: view

Protein tissue co-expression partners for NOP10 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for NOP10 Gene

Orthologs for NOP10 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NOP10 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia NOP10 35
  • 91.67 (n)
  • 95.31 (a)
NOP10 36
  • 95 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia NOP10 35
  • 90.1 (n)
  • 96.87 (a)
NOP10 36
  • 97 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Nop10 35
  • 94.27 (n)
  • 100 (a)
Nop10 16
Nop10 36
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia NOP10 35
  • 99.48 (n)
  • 100 (a)
NOP10 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Nop10 35
  • 94.79 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
 Mammalia NOP10 36
  • 94 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 82 (a)
 OneToMany
-- 36
  • 82 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia NOP10 36
  • 84 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia nop10 35
  • 70.31 (n)
  • 76.56 (a)
Str.7871 35
African clawed frog
(Xenopus laevis)
 Amphibia Xl.8028 35
zebrafish
(Danio rerio)
 Actinopterygii nop10 35
  • 71.87 (n)
  • 81.25 (a)
nop10 36
  • 80 (a)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP005149 35
  • 65.08 (n)
  • 68.25 (a)
fruit fly
(Drosophila melanogaster)
 Insecta CG7637 35
  • 61.9 (n)
  • 66.67 (a)
CG7637 36
  • 66 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea nola-3 36
  • 59 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes NOP10 36
  • 60 (a)
 OneToOne
NOP10 38
corn
(Zea mays)
 Liliopsida Zm.16821 35
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 63 (a)
 OneToOne
Species with no ortholog for NOP10:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NOP10 Gene

ENSEMBL:
Gene Tree for NOP10 (if available)
TreeFam:
Gene Tree for NOP10 (if available)

Paralogs for NOP10 Gene

Pseudogenes.org Pseudogenes for NOP10 Gene

genes like me logo Genes that share paralogs with NOP10: view

No data available for Paralogs for NOP10 Gene

Variants for NOP10 Gene

Sequence variations from dbSNP and Humsavar for NOP10 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_043725 Dyskeratosis congenita, autosomal recessive, 1 (DKCB1)
rs73374502 -- 34,341,221(+) GCACT(A/C)CAGCC downstream-variant-500B
rs538182478 -- 34,341,227(+) CAGCC(G/T)GGACA downstream-variant-500B
rs539989914 -- 34,341,234(+) GACAA(C/G)AGATC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for NOP10 Gene

Variant ID Type Subtype PubMed ID
esv33337 CNV Gain+Loss 17666407
dgv730e1 CNV Complex 17122850
dgv731e1 CNV Complex 17122850
nsv428303 CNV Gain 18775914
nsv471682 CNV Gain+Loss 15918152
nsv469547 CNV Loss 16826518
dgv732e1 CNV Complex 17122850
nsv482995 CNV Loss 15286789

Variation tolerance for NOP10 Gene

Residual Variation Intolerance Score: 53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NOP10 Gene

Human Gene Mutation Database (HGMD)
NOP10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOP10 Gene

Disorders for NOP10 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NOP10 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita, autosomal recessive 1
  • dyskeratosis congenita, autosomal recessive, 1
dyskeratosis congenita
  • revesz syndrome
nop10-related dyskeratosis congenita
dyskeratosis congenita autosomal recessive
  • autosomal recessive dyskeratosis congenita
aplastic anemia
  • pulmonary fibrosis, idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search NOP10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NOP10_HUMAN
  • 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. {ECO:0000269 PubMed:17507419}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NOP10

Human Genome Epidemiology (HuGE) Navigator
NOP10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NOP10
genes like me logo Genes that share disorders with NOP10: view

No data available for Genatlas for NOP10 Gene

Publications for NOP10 Gene

  1. Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. (PMID: 11074001) Pogacic V. … Filipowicz W. (Mol. Cell. Biol. 2000) 2 3 4 23 67
  2. Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. (PMID: 20008900) Trahan C. … Dragon F. (Hum. Mol. Genet. 2010) 3 23
  3. Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo. (PMID: 20351177) Egan E.D. … Collins K. (Mol. Cell. Biol. 2010) 3 23
  4. Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP. (PMID: 19095616) Trahan C. … Dragon F. (RNA 2009) 3 23
  5. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. (PMID: 17507419) Walne A.J. … Dokal I. (Hum. Mol. Genet. 2007) 3 23

Products for NOP10 Gene

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