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 re... See more...

Aliases for PUS1 Gene

Aliases for PUS1 Gene

  • Pseudouridine Synthase 1 2 3 5
  • TRNA Pseudouridine(38-40) Synthase 2 3 4
  • TRNA Pseudouridylate Synthase I 3 4
  • TRNA Pseudouridine Synthase A 3 4
  • Pseudouridylate Synthase 1 2 3
  • TRNA Pseudouridine Synthase A, Mitochondrial 3
  • Mitochondrial TRNA Pseudouridine Synthase A 3
  • TRNA Uridine Isomerase I 3
  • TRNA-Uridine Isomerase I 4
  • EC 5.4.99.12 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 (Pseudouridine 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 Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include nuclear receptor transcription coactivator activity. An important paralog of this gene is PUS3.

UniProtKB/Swiss-Prot Summary 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 through pseudouridylation of SRA1 RNA.

Gene Wiki entry for PUS1 Gene

Additional gene information for PUS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PUS1 Gene

Genomics for PUS1 Gene

GeneHancer (GH) Regulatory Elements for PUS1 Gene

Promoters and enhancers for PUS1 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 PUS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PUS1

Top Transcription factor binding sites by QIAGEN in the PUS1 gene promoter:
  • AML1a
  • E47
  • LCR-F1
  • Pax-3
  • SRF
  • SRF (504 AA)
  • STAT1
  • STAT1alpha
  • STAT1beta
  • Tal-1beta

Genomic Locations for PUS1 Gene

Genomic Locations for PUS1 Gene
chr12:131,929,200-131,945,896
(GRCh38/hg38)
Size:
16,697 bases
Orientation:
Plus strand
chr12:132,413,745-132,428,406
(GRCh37/hg19)
Size:
14,662 bases
Orientation:
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:
    Q9Y606-TRUA_HUMAN
    Recommended name:
    tRNA pseudouridine synthase A
    Protein Accession:
    Q9Y606
    Secondary Accessions:
    • A8K877
    • B3KQC1
    • Q8WYT2
    • Q9BU44

    Protein attributes for PUS1 Gene

    Size:
    427 amino acids
    Molecular mass:
    47470 Da
    Quaternary structure:
    • Monomer (PubMed:23707380, PubMed:24722331). Forms a complex with RARG and the SRA1 RNA in the nucleus (By similarity).

    Three dimensional structures from OCA and Proteopedia for PUS1 Gene

    Alternative splice isoforms for PUS1 Gene

    UniProtKB/Swiss-Prot:

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

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

Protein Domains for PUS1 Gene

Suggested Antigen Peptide Sequences for PUS1 Gene

GenScript: Design optimal peptide antigens:
  • Pseudouridine synthase (F5GY32_HUMAN)
  • Pseudouridine synthase (F5H1S9_HUMAN)
  • tRNA-uridine isomerase I (TRUA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y606

UniProtKB/Swiss-Prot:

TRUA_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 PUS1: view

Function for PUS1 Gene

Molecular function for PUS1 Gene

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 through pseudouridylation of SRA1 RNA.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=uridine(38/39/40) in tRNA = pseudouridine(38/39/40) in tRNA; Xref=Rhea:RHEA:22376, Rhea:RHEA-COMP:10085, Rhea:RHEA-COMP:10087, ChEBI:CHEBI:65314, ChEBI:CHEBI:65315; EC=5.4.99.12; Evidence=. ;.

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:0000049 tRNA binding IDA 23707380
GO:0002153 steroid receptor RNA activator RNA binding IDA 24722331
GO:0003723 RNA binding HDA,IEA 22658674
GO:0009982 pseudouridine synthase activity IEA,IMP 24722331
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:
  • Pus1 Pus1<tm1.1Mdf>

Animal Model Products

  • Taconic Biosciences Mouse Models for PUS1

CRISPR Products

miRNA for PUS1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PUS1

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

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 PUS1 gene
Compartment Confidence
mitochondrion 5
nucleus 4
peroxisome 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 21873635
GO:0005654 nucleoplasm 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:0001522 pseudouridine synthesis IEA --
GO:0008033 tRNA processing IEA --
GO:0009451 RNA modification IEA --
GO:0031119 tRNA pseudouridine synthesis IBA,IEA 21873635
GO:0070902 mitochondrial tRNA pseudouridine synthesis TAS --
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, Investigational Pharma 0

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

Transcripts for PUS1 Gene

mRNA/cDNA for PUS1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PUS1

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: - - - - - -
SP10:

Relevant External Links for PUS1 Gene

GeneLoc Exon Structure for
PUS1

Expression for PUS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PUS1 Gene



Protein tissue co-expression partners for PUS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PUS1

SOURCE GeneReport for Unigene cluster for PUS1 Gene:

Hs.592004

mRNA Expression by UniProt/SwissProt for PUS1 Gene:

Q9Y606-TRUA_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • liver
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • lower limb
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia PUS1 31 30
  • 98.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PUS1 31 30
  • 82.73 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pus1 17 31 30
  • 82.09 (n)
rat
(Rattus norvegicus)
Mammalia Pus1 30
  • 81.85 (n)
dog
(Canis familiaris)
Mammalia PUS1 31 30
  • 81.42 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PUS1 31
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PUS1 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves PUS1 31 30
  • 74.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PUS1 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pus1 30
  • 65.59 (n)
Str.9273 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.21080 30
zebrafish
(Danio rerio)
Actinopterygii pus1 31 30
  • 65.36 (n)
OneToOne
Dr.29119 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5299 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002409 30
  • 57.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4159 31 32 30
  • 57.37 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pus-1 31 30
  • 49.54 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL105C 30
  • 53.57 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02244g 30
  • 46.39 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS1 33 31 30
  • 46.14 (n)
PUS2 31
  • 29 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G76120 30
  • 50.45 (n)
rice
(Oryza sativa)
Liliopsida Os02g0668400 30
  • 47.68 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07528 30
  • 56.67 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pus1 30
  • 45.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1083 31
  • 32 (a)
OneToOne
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

ENSEMBL:
Gene Tree for PUS1 (if available)
TreeFam:
Gene Tree for PUS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PUS1: view image

Paralogs for PUS1 Gene

Paralogs for PUS1 Gene

(38) SIMAP similar genes for PUS1 Gene using alignment to 8 proteins:

  • TRUA_HUMAN
  • F5GXL3_HUMAN
  • F5GY32_HUMAN
  • F5H168_HUMAN
  • F5H1B2_HUMAN
  • F5H1S9_HUMAN
  • F8W9U5_HUMAN
  • G8JLB3_HUMAN
genes like me logo Genes that share paralogs with PUS1: view

Variants for PUS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PUS1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
673232 Benign: not provided 131,938,866(+) C/T INTRON_VARIANT
676183 Benign: not provided 131,929,165(+) C/G
676197 Benign: not provided 131,929,053(+) A/C
676228 Benign: not provided 131,929,142(+) G/A
678339 Likely Benign: not provided 131,929,189(+) T/G

Additional dbSNP identifiers (rs#s) for PUS1 Gene

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

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

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)

Additional Variant Information for PUS1 Gene

Human Gene Mutation Database (HGMD)
PUS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PUS1

SNP Genotyping and Copy Number Assay Products

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

Disorders for PUS1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PUS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy, lactic acidosis, and sideroblastic anemia 1
  • mlasa1
sideroblastic anemia
  • anemia sideroblastic
lactic acidosis
  • acidosis lactic
mitochondrial myopathy
  • mitochondrial cytopathy
myopathy
  • muscular diseases
- elite association - COSMIC cancer census association via MalaCards
Search PUS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRUA_HUMAN
  • 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.

Additional Disease Information for PUS1

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 23 54
  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 23 54
  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 23 54
  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 23 54
  5. Steroid receptor RNA activator (SRA) modification by the human pseudouridine synthase 1 (hPus1p): RNA binding, activity, and atomic model. (PMID: 24722331) Huet T … Thore S (PloS one 2014) 3 4 54

Products for PUS1 Gene

Sources for PUS1 Gene