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Aliases for PUS10 Gene

Aliases for PUS10 Gene

  • Pseudouridylate Synthase 10 2 3
  • DOBI 3 4 6
  • Coiled-Coil Domain-Containing Protein 139 3 4
  • Coiled-Coil Domain Containing 139 2 3
  • TRNA Pseudouridine 55 Synthase 3 4
  • TRNA Pseudouridylate Synthase 3 4
  • TRNA-Uridine Isomerase 3 4
  • Psi55 Synthase 3 4
  • CCDC139 3 4
  • Putative TRNA Pseudouridine Synthase Pus10 3
  • Pseudouridine Synthase 10 3
  • EC 5.4.99.- 4
  • EC 5.4.99 63
  • PUS1 6

External Ids for PUS10 Gene

Previous HGNC Symbols for PUS10 Gene

  • CCDC139

Previous GeneCards Identifiers for PUS10 Gene

  • GC02M061023
  • GC02M061167
  • GC02M060909

Summaries for PUS10 Gene

Entrez Gene Summary for PUS10 Gene

  • Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]

GeneCards Summary for PUS10 Gene

PUS10 (Pseudouridylate Synthase 10) is a Protein Coding gene. GO annotations related to this gene include RNA binding and pseudouridine synthase activity.

UniProtKB/Swiss-Prot for PUS10 Gene

  • Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable). Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PUS10 Gene

Genomics for PUS10 Gene

Regulatory Elements for PUS10 Gene

Genomic Location for PUS10 Gene

Start:
60,940,222 bp from pter
End:
61,018,259 bp from pter
Size:
78,038 bases
Orientation:
Minus strand

Genomic View for PUS10 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PUS10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PUS10 Gene

Proteins for PUS10 Gene

  • Protein details for PUS10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3MIT2-PUS10_HUMAN
    Recommended name:
    Putative tRNA pseudouridine synthase Pus10
    Protein Accession:
    Q3MIT2
    Secondary Accessions:
    • Q5JPJ5
    • Q96MI8

    Protein attributes for PUS10 Gene

    Size:
    529 amino acids
    Molecular mass:
    60244 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI46123.1; Type=Miscellaneous discrepancy; Note=Partially unspliced pre-RNA.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PUS10 Gene

neXtProt entry for PUS10 Gene

Proteomics data for PUS10 Gene at MOPED

Selected DME Specific Peptides for PUS10 Gene

Post-translational modifications for PUS10 Gene

  • Proteolytically cleaved during TRAIL-induced cell death. Cleaved, in vitro, either by caspase-3 or caspase-8.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PUS10 Gene

Domains for PUS10 Gene

Protein Domains for PUS10 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PUS10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3MIT2

UniProtKB/Swiss-Prot:

PUS10_HUMAN :
  • Q3MIT2
Family:
  • Belongs to the pseudouridine synthase Pus10 family.
genes like me logo Genes that share domains with PUS10: view

No data available for Gene Families for PUS10 Gene

Function for PUS10 Gene

Molecular function for PUS10 Gene

UniProtKB/Swiss-Prot CatalyticActivity: tRNA uridine = tRNA pseudouridine
UniProtKB/Swiss-Prot Function: Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable). Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death.

Enzyme Numbers (IUBMB) for PUS10 Gene

Gene Ontology (GO) - Molecular Function for PUS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0009982 pseudouridine synthase activity IEA --
genes like me logo Genes that share ontologies with PUS10: view

Phenotypes for PUS10 Gene

GenomeRNAi human phenotypes for PUS10:
genes like me logo Genes that share phenotypes with PUS10: view

miRNA for PUS10 Gene

miRTarBase miRNAs that target PUS10

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PUS10 Gene

Localization for PUS10 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PUS10 Gene COMPARTMENTS Subcellular localization image for PUS10 gene
Compartment Confidence
cytosol 2
nucleus 2
cytoskeleton 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PUS10 Gene

Pathways for PUS10 Gene

SuperPathways for PUS10 Gene

No Data Available

Interacting Proteins for PUS10 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000326003%0d%0a9606.ENSP00000363753%0d%0a
Selected Interacting proteins: ENSP00000326003 for PUS10 Gene via STRING

Symbol External ID(s) Details
FAM206A

Gene Ontology (GO) - Biological Process for PUS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001522 pseudouridine synthesis IEA --
GO:0008033 tRNA processing IEA --
GO:0009451 RNA modification --
genes like me logo Genes that share ontologies with PUS10: view

No data available for Pathways by source for PUS10 Gene

Compounds for PUS10 Gene

(2) HMDB Compounds for PUS10 Gene

Compound Synonyms Cas Number PubMed IDs
Pseudouridine
  • 5-(b-D-Ribofuranosyl)uracil
1445-07-4
Uridine
  • 1-b-D-Ribofuranosyl-2,4(1H,3H)-pyrimidinedione
58-96-8
genes like me logo Genes that share compounds with PUS10: view

Transcripts for PUS10 Gene

Unigene Clusters for PUS10 Gene

Pseudouridylate synthase 10:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PUS10 Gene

No ASD Table

Relevant External Links for PUS10 Gene

GeneLoc Exon Structure for
PUS10
ECgene alternative splicing isoforms for
PUS10

Expression for PUS10 Gene

mRNA expression in normal human tissues for PUS10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PUS10 Gene

SOURCE GeneReport for Unigene cluster for PUS10 Gene Hs.368348

genes like me logo Genes that share expressions with PUS10: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PUS10 Gene

Orthologs for PUS10 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PUS10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PUS10 35
  • 99.56 (n)
  • 99.43 (a)
PUS10 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PUS10 35
  • 93.32 (n)
  • 93.19 (a)
PUS10 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PUS10 35
  • 93.57 (n)
  • 94.52 (a)
PUS10 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pus10 35
  • 86.21 (n)
  • 86.91 (a)
Pus10 16
Pus10 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PUS10 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PUS10 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pus10 35
  • 81.54 (n)
  • 80 (a)
chicken
(Gallus gallus)
Aves PUS10 35
  • 76.87 (n)
  • 75.61 (a)
PUS10 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PUS10 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pus10 35
  • 58.68 (n)
  • 51.37 (a)
zebrafish
(Danio rerio)
Actinopterygii pus10 35
  • 61.19 (n)
  • 58.9 (a)
pus10 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012003 35
  • 46.6 (n)
  • 37.2 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3709 35
  • 46.22 (n)
  • 37.53 (a)
CG3709 36
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y48C3A.20 35
  • 47.54 (n)
  • 37.14 (a)
Y48C3A.20 36
  • 32 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G20410 35
  • 49.51 (n)
  • 39.05 (a)
rice
(Oryza sativa)
Liliopsida Os04g0561700 35
  • 47.91 (n)
  • 37.85 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8998 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2048 36
  • 29 (a)
OneToOne
Species with no ortholog for PUS10:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PUS10 Gene

ENSEMBL:
Gene Tree for PUS10 (if available)
TreeFam:
Gene Tree for PUS10 (if available)

Paralogs for PUS10 Gene

No data available for Paralogs for PUS10 Gene

Variants for PUS10 Gene

Sequence variations from dbSNP and Humsavar for PUS10 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs714970 -- 61,014,657(-) ATTTT(C/G)TAAAA intron-variant
rs717304 -- 60,996,155(+) CTGCA(C/T)GCCAC intron-variant
rs1177226 -- 61,003,288(-) GACGC(A/G)GTTTC intron-variant
rs1177228 -- 61,015,275(+) CAGGC(A/G)TTATC intron-variant
rs1177229 -- 61,015,646(+) GAGAG(C/T)CAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PUS10 Gene

Variant ID Type Subtype PubMed ID
nsv834215 CNV Loss 17160897
nsv874210 CNV Gain 21882294

Relevant External Links for PUS10 Gene

HapMap Linkage Disequilibrium report
PUS10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PUS10 Gene

Disorders for PUS10 Gene

Relevant External Links for PUS10

Genetic Association Database (GAD)
PUS10
Human Genome Epidemiology (HuGE) Navigator
PUS10
genes like me logo Genes that share disorders with PUS10: view

No data available for UniProtKB/Swiss-Prot for PUS10 Gene

Publications for PUS10 Gene

  1. Crystal structure of human Pus10, a novel pseudouridine synthase. (PMID: 17900615) McCleverty C.J. … Kreusch A. (J. Mol. Biol. 2007) 2 3 4
  2. Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. (PMID: 19068216) Anderson C.A. … Parkes M. (Gastroenterology 2009) 3 48
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 48
  4. DOBI is cleaved by caspases during TRAIL-induced apoptotic cell death. (PMID: 19712588) Park S.Y. … Kim T.H. (BMB Rep. 2009) 3 4
  5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood H.D. … Lan Q. (Occup Environ Med 2009) 3 48

Products for PUS10 Gene

Sources for PUS10 Gene

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