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Aliases for PUS10 Gene

Aliases for PUS10 Gene

  • Pseudouridylate Synthase 10 2 3 5
  • 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
  • DOBI 3 4
  • Putative TRNA Pseudouridine Synthase Pus10 3
  • Pseudouridine Synthase 10 3
  • EC 5.4.99.- 4
  • EC 5.4.99 61

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

Enhancers for PUS10 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F061015 0.7 ENCODE 12.4 +2.1 2133 4.4 CREB3L1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PAPOLG PEX13 PUS10 ENSG00000236498 FAM161A ENSG00000232713 AHSA2
GH02F060543 2.3 FANTOM5 ENCODE 10.1 +469.3 469278 14.4 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 GLIS2 ZNF143 KLF7 ZNF263 SP3 PAPOLG ENSG00000233953 PUS10 MIR4432HG RNU1-32P REL BCL11A GC02P060545
GH02F061011 1.3 Ensembl ENCODE 9.7 +7.5 7531 1.4 PKNOX1 JUN ZEB1 ZNF101 POLR3A PATZ1 EED PRDM10 NR2F6 FOS PUS10 PEX13 RNA5SP95
GH02F060926 0.6 Ensembl ENCODE 8.9 +93.0 93031 2.0 HLF FOXA3 MAX FEZF1 OSR2 GATA3 CEBPA MAFK MYC LINC01185 REL PAPOLG PUS10 ENSG00000267520 GC02P060926 NONOP2
GH02F060880 1.3 FANTOM5 ENCODE 8 +136.4 136373 7.2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 FOS ZNF263 REL PUS10 AHSA2 LOC339803 GC02P060883
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PUS10 on UCSC Golden Path with GeneCards custom track

Genomic Location for PUS10 Gene

Chromosome:
2
Start:
60,938,352 bp from pter
End:
61,020,031 bp from pter
Size:
81,680 bases
Orientation:
Minus strand

Genomic View for PUS10 Gene

Genes around PUS10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PUS10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

Domains & Families 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 :
  • Belongs to the pseudouridine synthase Pus10 family.
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 IBA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with PUS10: view

Phenotypes for PUS10 Gene

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

Animal Model Products

miRNA for PUS10 Gene

miRTarBase miRNAs that target PUS10

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 3
nucleus 3
mitochondrion 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 & Interactions 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: Q3MIT2-PUS10_HUMAN ENSP00000326003 for PUS10 Gene via UniProtKB IID STRING

Gene Ontology (GO) - Biological Process for PUS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008033 tRNA processing IEA --
GO:0009451 RNA modification IEA --
GO:0031119 tRNA pseudouridine synthesis IBA --
genes like me logo Genes that share ontologies with PUS10: view

No data available for Pathways by source and SIGNOR curated interactions for PUS10 Gene

Drugs & Compounds for PUS10 Gene

(1) Drugs for PUS10 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine Experimental Pharma 0

(1) Additional Compounds for PUS10 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pseudouridine
  • 5-(b-D-Ribofuranosyl)uracil
  • 5-(b-delta-Ribofuranosyl)uracil
  • 5-b-D-Ribofuranosyl-Uracil
  • 5-beta-delta-Ribofuranosyl-Uracil
  • 5-Ribosyluracil
1445-07-4
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:

Inhibitory RNA Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for PUS10 Gene

This gene is overexpressed in Prostate (37.3), Spleen (13.7), and Ovary (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PUS10 Gene



Protein tissue co-expression partners for PUS10 Gene

NURSA nuclear receptor signaling pathways regulating expression of PUS10 Gene:

PUS10

SOURCE GeneReport for Unigene cluster for PUS10 Gene:

Hs.368348
genes like me logo Genes that share expression patterns with PUS10: view

Primer Products

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 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia PUS10 34 35
  • 93.57 (n)
cow
(Bos Taurus)
Mammalia PUS10 34 35
  • 93.32 (n)
mouse
(Mus musculus)
Mammalia Pus10 34 16 35
  • 86.21 (n)
oppossum
(Monodelphis domestica)
Mammalia PUS10 35
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pus10 34
  • 81.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PUS10 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves PUS10 34 35
  • 76.87 (n)
lizard
(Anolis carolinensis)
Reptilia PUS10 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pus10 34
  • 58.68 (n)
zebrafish
(Danio rerio)
Actinopterygii pus10 34 35
  • 61.19 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012003 34
  • 46.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3709 34 35
  • 46.22 (n)
worm
(Caenorhabditis elegans)
Secernentea Y48C3A.20 34 35
  • 47.54 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G20410 34
  • 49.51 (n)
rice
(Oryza sativa)
Liliopsida Os04g0561700 34
  • 47.91 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2048 35
  • 29 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8998 34
Species where no ortholog for PUS10 was found in the sources mined by GeneCards:
  • 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
VAR_035617 A colorectal cancer sample
rs147461642 Likely benign 61,017,754(+) AGGCG(C/G)AGGAG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs10153894 -- 60,970,514(+) AAAAA(A/T)TTTTA intron-variant
rs10174032 -- 60,951,790(+) CATCC(G/T)CTATA intron-variant
rs10176601 -- 60,952,025(+) GCTCA(C/T)TCCTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834215 CNV loss 17160897

Variation tolerance for PUS10 Gene

Residual Variation Intolerance Score: 7.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.63; 45.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PUS10 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PUS10

No disorders were found for PUS10 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 64
  2. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PMID: 22412388) Kenny E.E. … Peter I. (PLoS Genet. 2012) 3 46 64
  3. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (PMID: 21297633) Anderson C.A. … Rioux J.D. (Nat. Genet. 2011) 3 46 64
  4. A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease. (PMID: 21298027) Festen E.A. … Rioux J.D. (PLoS Genet. 2011) 3 46 64
  5. Multiple common variants for celiac disease influencing immune gene expression. (PMID: 20190752) Dubois P.C. … van Heel D.A. (Nat. Genet. 2010) 3 46 64

Products for PUS10 Gene

Sources for PUS10 Gene

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