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Aliases for PUS1 Gene

Aliases for PUS1 Gene

  • Pseudouridylate Synthase 1 2 3 5
  • TRNA Pseudouridine(38-40) Synthase 2 3 4
  • TRNA Pseudouridylate Synthase I 3 4
  • TRNA Pseudouridine Synthase A, Mitochondrial 3
  • Mitochondrial TRNA Pseudouridine Synthase A 3
  • TRNA Uridine Isomerase I 3
  • TRNA-Uridine Isomerase I 4
  • EC 4
  • MLASA1 3

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 Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 and Sideroblastic Anemia. Among its related pathways are tRNA processing and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and ligand-dependent nuclear receptor transcription coactivator 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

Additional gene information for PUS1 Gene

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

Genomics for PUS1 Gene

Regulatory Elements for PUS1 Gene

Enhancers for PUS1 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
GH12H131871 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -56.6 -56619 2.8 PKNOX1 NFIB SIN3A ZBTB7B FOS RCOR1 SMARCA5 SMARCC1 ELF1 REST MMP17 PUS1 ENSG00000255992 EP400 RNU6-1017P SFSWAP ULK1 ENSG00000256955
GH12H131927 1.1 ENCODE 17.3 +0.0 23 3.3 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 SP3 SP5 EP400NL EP400 GOLGA3 NOC4L ANKLE2 SFSWAP PUS1 POLE ENSG00000255933 DDX51
GH12H132487 1.6 FANTOM5 ENCODE dbSUPER 10.6 +562.9 562879 9.3 FOXA2 ARID4B SIN3A ZBTB7B TCF12 GLIS2 GATA2 ZNF143 RUNX3 REST FBRSL1 ZNF140 ANKLE2 EP400NL EP400 NOC4L ZNF891 GOLGA3 ZNF26 ENSG00000256875
GH12H131882 1.2 Ensembl ENCODE dbSUPER 12.2 -45.8 -45815 2.4 BCOR ZMYM3 THRB ZBTB7B ZNF121 ZFHX2 GATA3 POLR2A EGR1 NR2F6 PUS1 ENSG00000255992 EP400 RNU6-1017P MMP17 SNORA49 ULK1 ENSG00000256955
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PUS1 on UCSC Golden Path with GeneCards custom track

Promoters for PUS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000059442 200 2001 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 SP3

Genomic Locations for PUS1 Gene

Genomic Locations for PUS1 Gene
16,697 bases
Plus strand

Genomic View for PUS1 Gene

Genes around PUS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PUS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for PUS1 Gene

Gene Families for PUS1 Gene

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

Suggested Antigen Peptide Sequences for PUS1 Gene

Graphical View of Domain Structure for InterPro Entry



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

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

Phenotypes From GWAS Catalog for PUS1 Gene

Gene Ontology (GO) - Molecular Function for PUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,IEA 22658674
GO:0004730 pseudouridylate synthase activity NAS 10094309
GO:0009982 pseudouridine synthase activity IEA,IBA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with PUS1: view
genes like me logo Genes that share phenotypes with PUS1: view

Human Phenotype Ontology for PUS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PUS1 Gene

MGI Knock Outs for PUS1:

Animal Model Products

CRISPR Products

miRNA for PUS1 Gene

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets 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

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 PUS1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
peroxisome 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with PUS1: view

Pathways & Interactions for PUS1 Gene

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

Gene Ontology (GO) - Biological Process for PUS1 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 --
GO:0070902 mitochondrial tRNA pseudouridine synthesis TAS --
GO:1990481 mRNA pseudouridine synthesis IBA --
genes like me logo Genes that share ontologies with PUS1: view

No data available for SIGNOR curated interactions for PUS1 Gene

Drugs & Compounds for PUS1 Gene

(1) Drugs for PUS1 Gene - From: HMDB and Novoseek

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

(2) Additional Compounds for PUS1 Gene - From: Novoseek and HMDB

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

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for PUS1 Gene

Protein differential expression in normal tissues from HIPED for PUS1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.6), Lung (18.5), and Blymphocyte (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PUS1 Gene

Protein tissue co-expression partners for PUS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PUS1 Gene:


SOURCE GeneReport for Unigene cluster for PUS1 Gene:


mRNA Expression by UniProt/SwissProt for PUS1 Gene:

Tissue specificity: Widely expressed. High levels of expression found in brain and skeletal muscle.

Evidence on tissue expression from TISSUES for PUS1 Gene

  • Liver(4.2)
  • Lung(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PUS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • pharynx
  • skull
  • esophagus
  • lung
  • rib
  • rib cage
  • liver
  • stomach
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
  • lower limb
  • upper limb
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PUS1: view

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 33 34
  • 98.75 (n)
(Bos Taurus)
Mammalia PUS1 33 34
  • 82.73 (n)
(Mus musculus)
Mammalia Pus1 33 16 34
  • 82.09 (n)
(Rattus norvegicus)
Mammalia Pus1 33
  • 81.85 (n)
(Canis familiaris)
Mammalia PUS1 33 34
  • 81.42 (n)
(Ornithorhynchus anatinus)
Mammalia PUS1 34
  • 70 (a)
(Monodelphis domestica)
Mammalia PUS1 34
  • 66 (a)
(Gallus gallus)
Aves PUS1 33 34
  • 74.73 (n)
(Anolis carolinensis)
Reptilia PUS1 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pus1 33
  • 65.59 (n)
Str.9273 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.21080 33
(Danio rerio)
Actinopterygii pus1 33 34
  • 65.36 (n)
Dr.29119 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5299 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002409 33
  • 57.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4159 35 33 34
  • 57.37 (n)
(Caenorhabditis elegans)
Secernentea pus-1 33 34
  • 49.54 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL105C 33
  • 53.57 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02244g 33
  • 46.39 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS1 33 34 36
  • 46.14 (n)
PUS2 34
  • 29 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G76120 33
  • 50.45 (n)
(Oryza sativa)
Liliopsida Os02g0668400 33
  • 47.68 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07528 33
  • 56.67 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pus1 33
  • 45.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1083 34
  • 32 (a)
Species where no ortholog for PUS1 was found in the sources mined by GeneCards:
  • 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

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
rs104894371 Pathogenic, Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462] 131,932,301(+) GCGCC(C/T)GGACA nc-transcript-variant, reference, missense
rs76655496 Likely benign, A breast cancer sample 131,932,268(+) GTGAG(A/G)ACATG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs104894372 Pathogenic 131,941,405(+) AGGAT(G/T)AGACC nc-transcript-variant, reference, stop-gained
rs869025309 Pathogenic 131,941,630(+) AGATC(C/T)GGAAG nc-transcript-variant, reference, missense
rs372753711 Likely pathogenic 131,939,188(+) CAGCC(A/G)GCCAG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv942 CNV insertion 18451855
nsv826562 CNV loss 20364138
nsv826561 CNV gain 20364138
nsv560931 CNV loss 21841781
nsv560930 CNV loss 21841781
nsv560928 CNV gain 21841781
nsv560927 CNV gain 21841781
nsv455804 CNV loss 19166990
nsv455803 CNV gain 19166990
nsv1145645 CNV deletion 24896259
esv3631282 CNV gain 21293372
esv3631281 CNV gain 21293372
esv2751042 CNV gain 17911159
esv2746908 CNV deletion 23290073

Variation tolerance for PUS1 Gene

Residual Variation Intolerance Score: 29.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PUS1 Gene

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

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

Disorders for PUS1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PUS1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PUS1 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for PUS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PUS1: view

No data available for Genatlas for PUS1 Gene

Publications for PUS1 Gene

  1. Cloning and characterization of a mammalian pseudouridine synthase. (PMID: 10094309) Chen J … Patton JR (RNA (New York, N.Y.) 1999) 2 3 4 22 60
  2. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. (PMID: 19731322) Bergmann AK … Neufeld EJ (Pediatric blood & cancer 2010) 3 4 22 60
  3. 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 (Journal of medical genetics 2007) 3 4 22 60
  4. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). (PMID: 15108122) Bykhovskaya Y … Fischel-Ghodsian N (American journal of human genetics 2004) 3 4 22 60
  5. Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1. (PMID: 18648068) Sibert BS … Patton JR (RNA (New York, N.Y.) 2008) 3 22 60

Products for PUS1 Gene

Sources for PUS1 Gene

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