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Aliases for PUS1 Gene

Aliases for PUS1 Gene

  • Pseudouridylate Synthase 1 2 3
  • TRNA Pseudouridine(38-40) Synthase 3 4
  • TRNA Pseudouridylate Synthase I 3 4
  • TRNA-Uridine Isomerase I 3 4
  • MLASA1 3 6
  • TRNA Pseudouridine Synthase A, Mitochondrial 3
  • Mitochondrial TRNA Pseudouridine Synthase A 3
  • TRNA Uridine Isomerase I 3
  • EC 4

External Ids for PUS1 Gene

Previous GeneCards Identifiers for PUS1 Gene

  • GC00U990923
  • GC12M131701
  • GC12P132294
  • GC12P130908
  • GC12P131080
  • GC12P130980
  • GC12P132413
  • GC12P129299

Summaries for PUS1 Gene

Entrez Gene Summary for PUS1 Gene

  • This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

GeneCards Summary for PUS1 Gene

PUS1 (Pseudouridylate Synthase 1) is a Protein Coding gene. Diseases associated with PUS1 include mitochondrial myopathy and sideroblastic anemia 1 and sideroblastic anemia. GO annotations related to this gene include RNA binding and pseudouridine synthase activity.

UniProtKB/Swiss-Prot for PUS1 Gene

  • Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity).

Gene Wiki entry for PUS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PUS1 Gene

Genomics for PUS1 Gene

Regulatory Elements for PUS1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PUS1 Gene

131,929,200 bp from pter
131,945,896 bp from pter
16,697 bases
Plus strand

Genomic View for PUS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PUS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PUS1 Gene

Proteins for PUS1 Gene

  • Protein details for PUS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    tRNA pseudouridine synthase A, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A8K877
    • B3KQC1
    • Q8WYT2
    • Q9BU44

    Protein attributes for PUS1 Gene

    427 amino acids
    Molecular mass:
    47470 Da
    Quaternary structure:
    • Forms a complex with RARG and the SRA1 RNA in the nucleus.

    Three dimensional structures from OCA and Proteopedia for PUS1 Gene

    Alternative splice isoforms for PUS1 Gene


neXtProt entry for PUS1 Gene

Proteomics data for PUS1 Gene at MOPED

Post-translational modifications for PUS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PUS1 Gene

Domains for PUS1 Gene

Suggested Antigen Peptide Sequences for PUS1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q9Y606
  • Belongs to the tRNA pseudouridine synthase TruA family.
genes like me logo Genes that share domains with PUS1: view

No data available for Gene Families for PUS1 Gene

Function for PUS1 Gene

Molecular function for PUS1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: tRNA uridine(38-40) = tRNA pseudouridine(38-40)
UniProtKB/Swiss-Prot Function: Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity).

Enzyme Numbers (IUBMB) for PUS1 Gene

Gene Ontology (GO) - Molecular Function for PUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding --
GO:0004730 pseudouridylate synthase activity NAS 10094309
GO:0005515 protein binding --
GO:0009982 pseudouridine synthase activity IEA --
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity IEA --
genes like me logo Genes that share ontologies with PUS1: view

Phenotypes for PUS1 Gene

GenomeRNAi human phenotypes for PUS1:
genes like me logo Genes that share phenotypes with PUS1: view

Animal Model Products

CRISPR Products

miRNA for PUS1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PUS1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PUS1 Gene

Localization for PUS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PUS1 Gene

Isoform 1: Mitochondrion.
Isoform 2: Nucleus.

Subcellular locations from

Jensen Localization Image for PUS1 Gene COMPARTMENTS Subcellular localization image for PUS1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 2
cytosol 1

Gene Ontology (GO) - Cellular Components for PUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA --
GO:0005634 nucleus IDA --
GO:0005667 transcription factor complex IEA --
GO:0005730 nucleolus IEA --
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with PUS1: view

Pathways for PUS1 Gene

SuperPathways for PUS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001522 pseudouridine synthesis --
GO:0008033 tRNA processing --
GO:0009451 RNA modification --
GO:0031119 tRNA pseudouridine synthesis IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with PUS1: view

No data available for Pathways by source for PUS1 Gene

Compounds for PUS1 Gene

(2) HMDB Compounds for PUS1 Gene

Compound Synonyms Cas Number PubMed IDs
  • 5-(b-D-Ribofuranosyl)uracil
  • 1-b-D-Ribofuranosyl-2,4(1H,3H)-pyrimidinedione

(3) Novoseek inferred chemical compound relationships for PUS1 Gene

Compound -log(P) Hits PubMed IDs
pseudouridine 93.6 13
trna 72.5 3
uridine 71.2 2
genes like me logo Genes that share compounds with PUS1: view

Transcripts for PUS1 Gene

Unigene Clusters for PUS1 Gene

Pseudouridylate synthase 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PUS1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PUS1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b
SP1: - - - - - - - -
SP2: - - -
SP3: - - - - - - -
SP4: - - -
SP5: - -
SP6: - - - - -
SP7: - - - - - -
SP8: - - - -
SP9: - - - - - -

Relevant External Links for PUS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PUS1 Gene

mRNA expression in normal human tissues for PUS1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PUS1 Gene

SOURCE GeneReport for Unigene cluster for PUS1 Gene Hs.592004

mRNA Expression by UniProt/SwissProt for PUS1 Gene

Tissue specificity: Widely expressed. High levels of expression found in brain and skeletal muscle.
genes like me logo Genes that share expressions with PUS1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PUS1 Gene

Orthologs for PUS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PUS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PUS1 35
  • 98.75 (n)
  • 98.83 (a)
PUS1 36
  • 99 (a)
(Bos Taurus)
Mammalia PUS1 35
  • 82.73 (n)
  • 82.41 (a)
PUS1 36
  • 80 (a)
(Canis familiaris)
Mammalia PUS1 35
  • 81.42 (n)
  • 80.14 (a)
PUS1 36
  • 77 (a)
(Mus musculus)
Mammalia Pus1 35
  • 82.09 (n)
  • 86.02 (a)
Pus1 16
Pus1 36
  • 81 (a)
(Monodelphis domestica)
Mammalia PUS1 36
  • 66 (a)
(Ornithorhynchus anatinus)
Mammalia PUS1 36
  • 70 (a)
(Rattus norvegicus)
Mammalia Pus1 35
  • 81.85 (n)
  • 86.02 (a)
(Gallus gallus)
Aves PUS1 35
  • 74.73 (n)
  • 78.8 (a)
PUS1 36
  • 72 (a)
(Anolis carolinensis)
Reptilia PUS1 36
  • 73 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21080 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pus1 35
  • 65.59 (n)
  • 71.77 (a)
Str.9273 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5299 35
(Danio rerio)
Actinopterygii Dr.29119 35
pus1 35
  • 65.36 (n)
  • 66.11 (a)
pus1 36
  • 58 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002409 35
  • 57.61 (n)
  • 51.04 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4159 35
  • 57.37 (n)
  • 50 (a)
CG4159 36
  • 38 (a)
CG4159 37
  • 46 (a)
(Caenorhabditis elegans)
Secernentea pus-1 35
  • 49.54 (n)
  • 41.64 (a)
pus-1 36
  • 33 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL105C 35
  • 53.57 (n)
  • 40.89 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS1 35
  • 46.14 (n)
  • 40.55 (a)
PUS1 36
  • 26 (a)
PUS1 38
PUS2 36
  • 29 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02244g 35
  • 46.39 (n)
  • 41.69 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G76120 35
  • 50.45 (n)
  • 43.62 (a)
(Oryza sativa)
Liliopsida Os02g0668400 35
  • 47.68 (n)
  • 38.66 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07528 35
  • 56.67 (n)
  • 47.58 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pus1 35
  • 45.01 (n)
  • 39.82 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1083 36
  • 32 (a)
Species with no ortholog for PUS1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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 PUS1 Gene

Gene Tree for PUS1 (if available)
Gene Tree for PUS1 (if available)

Paralogs for PUS1 Gene

genes like me logo Genes that share paralogs with PUS1: view

No data available for Paralogs for PUS1 Gene

Variants for PUS1 Gene

Sequence variations from dbSNP and Humsavar for PUS1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs4964912 -- 131,939,233(-) CTTTT(C/T)TAGAA missense, reference
rs4965004 -- 131,940,155(-) GCTTA(C/T)AGGCT intron-variant
rs4965005 -- 131,938,173(-) agcaa(C/T)gatgc intron-variant
rs4965006 -- 131,934,988(-) TGTAC(A/G)ACGGC intron-variant
rs6598176 -- 131,940,903(+) taatt(A/G)tacat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PUS1 Gene

Variant ID Type Subtype PubMed ID
nsv899699 CNV Gain 21882294
nsv455803 CNV Gain 19166990
esv2751042 CNV Gain 17911159
dgv1516n71 CNV Loss 21882294
nsv826561 CNV Gain 20364138
nsv455804 CNV Loss 19166990
nsv942 CNV Insertion 18451855
nsv826562 CNV Loss 20364138
esv2746908 CNV Deletion 23290073

Relevant External Links for PUS1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PUS1 Gene

Disorders for PUS1 Gene

(1) OMIM Diseases for PUS1 Gene (608109)


  • Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462]: A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. {ECO:0000269 PubMed:15108122, ECO:0000269 PubMed:16959974, ECO:0000269 PubMed:19731322}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PUS1 Gene

(4) Novoseek inferred disease relationships for PUS1 Gene

Disease -log(P) Hits PubMed IDs
anemia sideroblastic 94.2 6
mitochondrial myopathies 82.1 5
acidosis lactic 55.3 3
myopathy 42.4 2
genes like me logo Genes that share disorders with PUS1: view

Publications for PUS1 Gene

  1. Cloning and characterization of a mammalian pseudouridine synthase. (PMID: 10094309) Chen J. … Patton J.R. (RNA 1999) 2 3 4 23
  2. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). (PMID: 17056637) Fernandez-Vizarra E. … Zeviani M. (J. Med. Genet. 2007) 3 4 23
  3. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). (PMID: 15108122) Bykhovskaya Y. … Fischel-Ghodsian N. (Am. J. Hum. Genet. 2004) 3 4 23
  4. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. (PMID: 19731322) Bergmann A.K. … Neufeld E.J. (Pediatr Blood Cancer 2010) 3 4 23
  5. Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1. (PMID: 18648068) Sibert B.S. … Patton J.R. (RNA 2008) 3 23

Products for PUS1 Gene

Sources for PUS1 Gene

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