The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] See more...

Aliases for PUS3 Gene

Aliases for PUS3 Gene

  • Pseudouridine Synthase 3 2 3 5
  • TRNA Pseudouridine(38/39) Synthase 2 3 4
  • TRNA-Uridine Isomerase 3 2 3 4
  • TRNA Pseudouridylate Synthase 3 3 4
  • TRNA Pseudouridine Synthase 3 3 4
  • Pseudouridylate Synthase 3 2 3
  • 2610020J05Rik 3
  • EC 5.4.99.45 4
  • FKSG32 3
  • MRT55 3

External Ids for PUS3 Gene

Previous GeneCards Identifiers for PUS3 Gene

  • GC11M125268
  • GC11M125763
  • GC11M121705

Summaries for PUS3 Gene

Entrez Gene Summary for PUS3 Gene

  • The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for PUS3 Gene

PUS3 (Pseudouridine Synthase 3) is a Protein Coding gene. Diseases associated with PUS3 include Mental Retardation, Autosomal Recessive 55 and Syndrome With A Dandy-Walker Malformation As Major Feature. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include RNA binding and pseudouridine synthase activity. An important paralog of this gene is PUS1.

UniProtKB/Swiss-Prot Summary for PUS3 Gene

  • Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs.

Additional gene information for PUS3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PUS3 Gene

Genomics for PUS3 Gene

GeneHancer (GH) Regulatory Elements for PUS3 Gene

Promoters and enhancers for PUS3 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 PUS3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PUS3

Top Transcription factor binding sites by QIAGEN in the PUS3 gene promoter:
  • AML1a
  • AREB6
  • E47
  • GATA-2
  • Pax-2
  • Pax-2a
  • Pax-6
  • Tal-1
  • TBP

Genomic Locations for PUS3 Gene

Genomic Locations for PUS3 Gene
chr11:125,893,485-125,903,369
(GRCh38/hg38)
Size:
9,885 bases
Orientation:
Minus strand
chr11:125,763,380-125,773,116
(GRCh37/hg19)
Size:
9,737 bases
Orientation:
Minus strand

Genomic View for PUS3 Gene

Genes around PUS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PUS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PUS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PUS3 Gene

Proteins for PUS3 Gene

  • Protein details for PUS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZE2-PUS3_HUMAN
    Recommended name:
    tRNA pseudouridine(38/39) synthase
    Protein Accession:
    Q9BZE2
    Secondary Accessions:
    • B2RAM0
    • Q96D17
    • Q96J23
    • Q96NB4

    Protein attributes for PUS3 Gene

    Size:
    481 amino acids
    Molecular mass:
    55647 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PUS3 Gene

Post-translational modifications for PUS3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PUS3 Gene

Domains & Families for PUS3 Gene

Gene Families for PUS3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PUS3 Gene

Suggested Antigen Peptide Sequences for PUS3 Gene

GenScript: Design optimal peptide antigens:
  • Pseudouridine synthase (E9PRI9_HUMAN)
  • tRNA-uridine isomerase 3 (PUS3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZE2

UniProtKB/Swiss-Prot:

PUS3_HUMAN :
  • Belongs to the tRNA pseudouridine synthase TruA family.
Family:
  • Belongs to the tRNA pseudouridine synthase TruA family.
genes like me logo Genes that share domains with PUS3: view

Function for PUS3 Gene

Molecular function for PUS3 Gene

UniProtKB/Swiss-Prot Function:
Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=uridine(38/39) in tRNA = pseudouridine(38/39) in tRNA; Xref=Rhea:RHEA:42564, Rhea:RHEA-COMP:10117, Rhea:RHEA-COMP:10118, ChEBI:CHEBI:65314, ChEBI:CHEBI:65315; EC=5.4.99.45; Evidence=. ;.

Enzyme Numbers (IUBMB) for PUS3 Gene

Phenotypes From GWAS Catalog for PUS3 Gene

Gene Ontology (GO) - Molecular Function for PUS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0009982 pseudouridine synthase activity IMP,IEA 27055666
GO:0016853 isomerase activity IEA --
GO:0106029 tRNA pseudouridine synthase activity IEA --
genes like me logo Genes that share ontologies with PUS3: view
genes like me logo Genes that share phenotypes with PUS3: view

Human Phenotype Ontology for PUS3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PUS3

CRISPR Products

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PUS3 Gene

Localization for PUS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PUS3 Gene

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 PUS3 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PUS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PUS3: view

Pathways & Interactions for PUS3 Gene

PathCards logo

SuperPathways for PUS3 Gene

genes like me logo Genes that share pathways with PUS3: view

Pathways by source for PUS3 Gene

Gene Ontology (GO) - Biological Process for PUS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006400 tRNA modification TAS --
GO:0008033 tRNA processing IEA --
GO:0009451 RNA modification IEA --
GO:0031119 tRNA pseudouridine synthesis IMP,IEA 27055666
GO:1990481 mRNA pseudouridine synthesis IBA 21873635
genes like me logo Genes that share ontologies with PUS3: view

No data available for SIGNOR curated interactions for PUS3 Gene

Drugs & Compounds for PUS3 Gene

(1) Drugs for PUS3 Gene - From: HMDB

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

(1) Additional Compounds for PUS3 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 PUS3: view

Transcripts for PUS3 Gene

mRNA/cDNA for PUS3 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PUS3 Gene

No ASD Table

Relevant External Links for PUS3 Gene

GeneLoc Exon Structure for
PUS3

Expression for PUS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PUS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PUS3 Gene

This gene is overexpressed in Heart (51.8) and Adipocyte (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PUS3 Gene



Protein tissue co-expression partners for PUS3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PUS3

SOURCE GeneReport for Unigene cluster for PUS3 Gene:

Hs.660922

Evidence on tissue expression from TISSUES for PUS3 Gene

  • Lung(4.2)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with PUS3: 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 PUS3 Gene

Orthologs for PUS3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PUS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PUS3 31 30
  • 99.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PUS3 31 30
  • 89.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PUS3 31 30
  • 89.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pus3 17 31 30
  • 86.93 (n)
rat
(Rattus norvegicus)
Mammalia Pus3 30
  • 85.51 (n)
oppossum
(Monodelphis domestica)
Mammalia PUS3 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PUS3 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves PUS3 31 30
  • 68.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PUS3 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pus3 30
  • 60.84 (n)
zebrafish
(Danio rerio)
Actinopterygii pus3 31 30
  • 59.03 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010807 30
  • 52.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3045 31 30
  • 49.96 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tag-124 31 30
  • 50.4 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E14345g 30
  • 53.73 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DEG1 33 31 30
  • 53.14 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL003W 30
  • 51.54 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC25B8.05 30
  • 52.33 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
OneToOne
Species where no ortholog for PUS3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 PUS3 Gene

ENSEMBL:
Gene Tree for PUS3 (if available)
TreeFam:
Gene Tree for PUS3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PUS3: view image

Paralogs for PUS3 Gene

Paralogs for PUS3 Gene

genes like me logo Genes that share paralogs with PUS3: view

Variants for PUS3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PUS3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
692029 Likely Pathogenic: Mental retardation, autosomal recessive 55 125,896,284(-) T/C INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,INTRON_VARIANT
714339 Benign: not provided 125,896,146(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
718029 Likely Benign: not provided 125,900,030(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
726758 Likely Benign: not provided 125,900,190(-) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
728635 Benign: not provided 125,893,967(-) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PUS3 Gene

Structural Variations from Database of Genomic Variants (DGV) for PUS3 Gene

Variant ID Type Subtype PubMed ID
dgv248n67 CNV gain 20364138
esv32964 CNV gain+loss 17666407
nsv468888 CNV loss 19166990
nsv556525 CNV gain 21841781
nsv556526 CNV loss 21841781

Variation tolerance for PUS3 Gene

Residual Variation Intolerance Score: 75.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.36; 85.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PUS3 Gene

Human Gene Mutation Database (HGMD)
PUS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PUS3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PUS3 Gene

Disorders for PUS3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for PUS3 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

PUS3_HUMAN
  • Mental retardation, autosomal recessive 55 (MRT55) [MIM:617051]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:27055666}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PUS3

genes like me logo Genes that share disorders with PUS3: view

No data available for Genatlas for PUS3 Gene

Publications for PUS3 Gene

  1. A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. (PMID: 27055666) Shaheen R … Alkuraya FS (Human genetics 2016) 2 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Pseudouridine synthase 3 from mouse modifies the anticodon loop of tRNA. (PMID: 11027153) Chen J … Patton JR (Biochemistry 2000) 3 23 54
  5. PEA15 regulates the DNA damage-induced cell cycle checkpoint and oncogene-directed transformation. (PMID: 24710276) Nagarajan A … Wajapeyee N (Molecular and cellular biology 2014) 3 54

Products for PUS3 Gene

Sources for PUS3 Gene