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 R... See more...

Aliases for PUS10 Gene

Aliases for PUS10 Gene

  • Pseudouridine Synthase 10 2 3 5
  • Coiled-Coil Domain-Containing Protein 139 3 4
  • Coiled-Coil Domain Containing 139 2 3
  • TRNA Pseudouridine Synthase Pus10 3 4
  • TRNA Pseudouridine 55 Synthase 3 4
  • TRNA Pseudouridylate Synthase 3 4
  • Pseudouridylate Synthase 10 2 3
  • TRNA-Uridine Isomerase 3 4
  • Psi55 Synthase 3 4
  • CCDC139 3 4
  • Hup10 3 4
  • DOBI 3 4
  • Putative TRNA Pseudouridine Synthase Pus10 3
  • EC 5.4.99.25 4
  • EC 5.4.99 50
  • FLJ32312 2
  • PUS10 5

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 (Pseudouridine Synthase 10) is a Protein Coding gene. Diseases associated with PUS10 include Peroxisome Biogenesis Disorder 11A and Astrakhan Spotted Fever. Gene Ontology (GO) annotations related to this gene include RNA binding and pseudouridine synthase activity.

UniProtKB/Swiss-Prot Summary for PUS10 Gene

  • Protein with different functions depending on its subcellular location: involved in miRNA processing in the nucleus and acts as a tRNA pseudouridylate synthase in the cytoplasm (PubMed:31819270). In the cytoplasm, acts as a pseudouridylate synthase by catalyzing synthesis of pseudouridine(54) and pseudouridine(55) from uracil-54 and uracil-55, respectively, in the psi GC loop of a subset of tRNAs (PubMed:30530625, PubMed:31819270). tRNA pseudouridylate synthase activity is enhanced by the presence of 1-methyladenosine at position 53-61 of tRNAs (PubMed:30530625). In the nucleus, promotes primary microRNAs (pri-miRNAs) processing independently of its RNA pseudouridylate synthase activity (PubMed:31819270). Binds pri-miRNAs (PubMed:31819270). Modulator of TRAIL/TNFSF10-induced cell death via activation of procaspase-8 and BID cleavage (PubMed:14527409, PubMed:19712588). Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death (PubMed:19712588).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PUS10 Gene

Genomics for PUS10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PUS10 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PUS10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PUS10

Top Transcription factor binding sites by QIAGEN in the PUS10 gene promoter:
  • CUTL1
  • E47
  • p53
  • Pax-4a
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • Tal-1beta
  • YY1

Genomic Locations for PUS10 Gene

Latest Assembly
chr2:60,940,218-61,019,693
(GRCh38/hg38)
Size:
79,476 bases
Orientation:
Minus strand

Previous Assembly
chr2:61,167,358-61,245,394
(GRCh37/hg19 by Entrez Gene)
Size:
78,037 bases
Orientation:
Minus strand

chr2:61,167,357-61,245,394
(GRCh37/hg19 by Ensembl)
Size:
78,038 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:
    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:
    • Interacts with components of the microprocessor complex DROSHA and DGCR8.
    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

Q3MIT2:
  • SSGREDVDVR
  • TQAGTYIKE

Post-translational modifications for PUS10 Gene

  • Proteolytically cleaved during TRAIL-induced cell death (PubMed:19712588). Cleaved, in vitro, either by caspase-3 (CASP3) or caspase-8 (CASP8) (PubMed:19712588).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PUS10 Gene

Gene Families for PUS10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PUS10 Gene

Suggested Antigen Peptide Sequences for PUS10 Gene

GenScript: Design optimal peptide antigens:
  • tRNA-uridine isomerase (PUS10_HUMAN)

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

Function for PUS10 Gene

Molecular function for PUS10 Gene

UniProtKB/Swiss-Prot Function:
Protein with different functions depending on its subcellular location: involved in miRNA processing in the nucleus and acts as a tRNA pseudouridylate synthase in the cytoplasm (PubMed:31819270). In the cytoplasm, acts as a pseudouridylate synthase by catalyzing synthesis of pseudouridine(54) and pseudouridine(55) from uracil-54 and uracil-55, respectively, in the psi GC loop of a subset of tRNAs (PubMed:30530625, PubMed:31819270). tRNA pseudouridylate synthase activity is enhanced by the presence of 1-methyladenosine at position 53-61 of tRNAs (PubMed:30530625). In the nucleus, promotes primary microRNAs (pri-miRNAs) processing independently of its RNA pseudouridylate synthase activity (PubMed:31819270). Binds pri-miRNAs (PubMed:31819270). Modulator of TRAIL/TNFSF10-induced cell death via activation of procaspase-8 and BID cleavage (PubMed:14527409, PubMed:19712588). Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death (PubMed:19712588).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=uridine(55) in tRNA = pseudouridine(55) in tRNA; Xref=Rhea:RHEA:42532, Rhea:RHEA-COMP:10101, Rhea:RHEA-COMP:10102, ChEBI:CHEBI:65314, ChEBI:CHEBI:65315; EC=5.4.99.25; Evidence={ECO:0000269|PubMed:31819270};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=uridine(54) in tRNA = pseudouridine(54) in tRNA; Xref=Rhea:RHEA:57876, Rhea:RHEA-COMP:10193, Rhea:RHEA-COMP:14141, ChEBI:CHEBI:65314, ChEBI:CHEBI:65315; Evidence={ECO:0000269|PubMed:30530625, ECO:0000269|PubMed:31819270};.

Enzyme Numbers (IUBMB) for PUS10 Gene

Phenotypes From GWAS Catalog 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:0005515 protein binding IPI 28514442
GO:0009982 pseudouridine synthase activity IBA 21873635
GO:0016853 isomerase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PUS10: view
genes like me logo Genes that share phenotypes with PUS10: view

Animal Models for PUS10 Gene

MGI Knock Outs for PUS10:
  • Pus10 Pus10<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PUS10

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PUS10 Gene

Localization for PUS10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PUS10 Gene

Nucleus. Cytoplasm. Mitochondrion. Note=Localizes mainly in the nucleus (Probable) (PubMed:31819270). tRNA pseudouridylate synthase activity is restricted to the cytoplasm (PubMed:31819270). Translocates from nucleus to mitochondria during TRAIL-induced apoptosis (PubMed:28981101). {ECO:0000269 PubMed:28981101, ECO:0000269 PubMed:31819270, ECO:0000305 PubMed:30530625}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PUS10 gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 3
extracellular 1
cytoskeleton 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PUS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 30530625
GO:0005737 cytoplasm IEA,IDA 30530625
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with PUS10: view

Pathways & Interactions for PUS10 Gene

PathCards logo

SuperPathways for PUS10 Gene

No Data Available

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 IEA --
GO:0031053 primary miRNA processing IDA 31819270
GO:0031119 tRNA pseudouridine synthesis IDA 30530625
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, Investigational Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pseudouridine
  • (1S)-1,4-Anhydro-1-(2,4-dioxo-1,2,3,4-tetrahydropyrimidin-5-yl)-D-ribitol
  • 5-(beta-D-Ribofuranosyl)uracil
  • beta-Pseudouridine
  • p
  • Psi-uridine
1445-07-4
genes like me logo Genes that share compounds with PUS10: view

Transcripts for PUS10 Gene

mRNA/cDNA for PUS10 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PUS10

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

No ASD Table

Relevant External Links for PUS10 Gene

GeneLoc Exon Structure for
PUS10

Expression for PUS10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PUS10 Gene



Protein tissue co-expression partners for PUS10 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PUS10

SOURCE GeneReport for Unigene cluster for PUS10 Gene:

Hs.368348

Evidence on tissue expression from TISSUES for PUS10 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with PUS10: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PUS10 29 30
  • 93.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PUS10 29 30
  • 93.32 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pus10 29 16 30
  • 86.21 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PUS10 30
  • 82 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pus10 29
  • 81.54 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PUS10 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PUS10 29 30
  • 76.87 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PUS10 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pus10 29
  • 58.68 (n)
Zebrafish
(Danio rerio)
Actinopterygii pus10 29 30
  • 61.19 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012003 29
  • 46.6 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG3709 29 30
  • 46.22 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y48C3A.20 29 30
  • 47.54 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G20410 29
  • 49.51 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0561700 29
  • 47.91 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2048 30
  • 29 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8998 29
Species where no ortholog for PUS10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for PUS10: view image
Alliance of Genome Resources:
Additional Orthologs for PUS10

Paralogs for PUS10 Gene

No data available for Paralogs for PUS10 Gene

Variants for PUS10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PUS10 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1040499 Uncertain Significance: Peroxisome biogenesis disorder 11A 61,017,845(-) C/G
NM_002618.4(PEX13):c.86C>G (p.Thr29Ser)
MISSENSE_VARIANT,INTRON
862694 Uncertain Significance: Peroxisome biogenesis disorder 11A 61,017,773(-) C/T
NM_002618.4(PEX13):c.14C>T (p.Pro5Leu)
MISSENSE_VARIANT,INTRON
960337 Uncertain Significance: Peroxisome biogenesis disorder 11A 61,017,802(-) C/T
NM_002618.4(PEX13):c.43C>T (p.Arg15Cys)
MISSENSE_VARIANT,INTRON
rs1002699754 Uncertain Significance: not provided 61,017,813(-) G/A
NM_002618.4(PEX13):c.54G>A (p.Pro18=)
SYNONYMOUS_VARIANT,INTRON
rs1470266685 Uncertain Significance: not provided 61,017,810(-) T/TCCGGGAGCCGGA
NM_002618.4(PEX13):c.58_69dup (p.Ala20_Gly23dup)
INFRAME_INSERTION,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PUS10 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for PUS10 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PUS10
Leiden Open Variation Database (LOVD)
PUS10

SNP Genotyping and Copy Number Assays for research

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

Disorders for PUS10 Gene

MalaCards: The human disease database

(9) MalaCards diseases for PUS10 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 11a
  • pbd11a
astrakhan spotted fever
peroxisome biogenesis disorder 11b
  • pbd11b
siberian tick typhus
  • manchurian typhus
israeli tick typhus
  • israeli spotted fever
- elite association - COSMIC cancer census association via MalaCards
Search PUS10 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PUS10

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PUS10: view

No data available for 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 CJ … Kreusch A (Journal of molecular biology 2007) 2 3 4
  2. Differential roles of human PUS10 in miRNA processing and tRNA pseudouridylation. (PMID: 31819270) Song J … Yi C (Nature chemical biology 2020) 3 4
  3. The human ortholog of archaeal Pus10 produces pseudouridine 54 in select tRNAs where its recognition sequence contains a modified residue. (PMID: 30530625) Deogharia M … Gupta R (RNA (New York, N.Y.) 2019) 3 4
  4. Reciprocal amplification of caspase-3 activity by nuclear export of a putative human RNA-modifying protein, PUS10 during TRAIL-induced apoptosis. (PMID: 28981101) Jana S … Gupta R (Cell death & disease 2017) 3 4
  5. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PMID: 22412388) Kenny EE … Peter I (PLoS genetics 2012) 3 40

Products for PUS10 Gene

Sources for PUS10 Gene