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Aliases for NOP10 Gene

Aliases for NOP10 Gene

  • NOP10 Ribonucleoprotein 2 3
  • NOLA3 3 4 6
  • 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
  • DKCB1 3 6
  • H/ACA Ribonucleoprotein Complex Subunit 3 3
  • NOP10 Ribonucleoprotein Homolog (Yeast) 2
  • NOP10 Ribonucleoprotein Homolog 3
  • NOP10P 3

External Ids for NOP10 Gene

Previous Symbols for NOP10 Gene

  • NOLA3

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 autosomal recessive. Among its related pathways are Ribosome biogenesis in eukaryotes. 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

Genomic Location for NOP10 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NOP10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOP10 Gene

Regulatory Elements for NOP10 Gene

Proteins for NOP10 Gene

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

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

    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

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 for NOP10 Gene

Protein Domains for NOP10 Gene

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
Family:
  • Belongs to the NOP10 family.:
    • Q9NPE3
genes like me logo Genes that share domains with NOP10: view

No data available for Gene Families for NOP10 Gene

Function for NOP10 Gene

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 IPI 16601202
GO:0030515 snoRNA binding IEA --
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

miRNA for NOP10 Gene

miRTarBase miRNAs that target NOP10

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 --
GO:0005730 nucleolus IEA --
GO:0005732 small nucleolar ribonucleoprotein complex TAS 9843512
GO:0015030 Cajal body IEA --
GO:0072588 box H/ACA RNP complex IEA --
genes like me logo Genes that share ontologies with NOP10: view

Pathways 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:0001522 pseudouridine synthesis NAS 9843512
GO:0006364 rRNA processing IEA --
GO:0042254 ribosome biogenesis --
genes like me logo Genes that share ontologies with NOP10: view

Compounds for NOP10 Gene

(2) Novoseek inferred chemical compound relationships for NOP10 Gene

Compound -log(P) Hits PubMed IDs
pseudouridine 86.1 4
uridine 67.9 1
genes like me logo Genes that share compounds with NOP10: view

Transcripts for NOP10 Gene

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:

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

mRNA expression in normal human tissues 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 (6.2).

Integrated Proteomics: protein expression 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 expressions with NOP10: view

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
chimpanzee
(Pan troglodytes)
Mammalia NOP10 35
  • 99.48 (n)
  • 100 (a)
NOP10 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia NOP10 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nop10 35
  • 94.79 (n)
  • 100 (a)
lizard
(Anolis carolinensis)
Reptilia NOP10 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8028 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nop10 35
  • 70.31 (n)
  • 76.56 (a)
Str.7871 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 MAF
rs428811 -- 34,341,257(-) ttttt(C/T)ttttt downstream-variant-500B
rs73374502 -- 34,341,221(+) GCACT(A/C)CAGCC downstream-variant-500B
rs74244096 -- 34,341,275(+) AGGCC(A/C)ACCAC downstream-variant-500B
rs112557761 -- 34,341,257(+) CAAAA(A/G)AAAAA downstream-variant-500B
rs538182478 -- 34,341,227(+) CAGCC(G/T)GGACA 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

Relevant External Links for NOP10 Gene

HapMap Linkage Disequilibrium report
NOP10
Human Gene Mutation Database (HGMD)
NOP10
Locus Specific Mutation Databases (LSDB)
NOP10

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

Disorders for NOP10 Gene

(1) OMIM Diseases for NOP10 Gene (606471)

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.

(1) University of Copenhagen DISEASES for NOP10 Gene

(1) Novoseek inferred disease relationships for NOP10 Gene

Disease -log(P) Hits PubMed IDs
dyskeratosis congenita 94.9 4

Relevant External Links for NOP10

Human Genome Epidemiology (HuGE) Navigator
NOP10
genes like me logo Genes that share disorders with NOP10: view

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
  2. 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 4 23
  3. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. (PMID: 15814878) Yamaguchi H. … Young N.S. (N. Engl. J. Med. 2005) 3 23
  4. 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
  5. 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

Products for NOP10 Gene

Sources for NOP10 Gene

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