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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
  • Mitochondrial TRNA Pseudouridine Synthase A 3
  • TRNA Uridine Isomerase I 3
  • 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 (Pseudouridylate Synthase 1) is a Protein Coding gene. Diseases associated with PUS1 include mitochondrial myopathy and sideroblastic anemia 1 and sideroblastic anemia. Among its related pathways are Gene Expression and tRNA modification in the nucleus and cytosol. 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

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

Chromosome:
12
Start:
131,929,200 bp from pter
End:
131,945,896 bp from pter
Size:
16,697 bases
Orientation:
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:
    Q9Y606-TRUA_HUMAN
    Recommended name:
    tRNA pseudouridine synthase A, mitochondrial
    Protein Accession:
    Q9Y606
    Secondary Accessions:
    • A8K877
    • B3KQC1
    • Q8WYT2
    • Q9BU44

    Protein attributes for PUS1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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 & Families for PUS1 Gene

Suggested Antigen Peptide Sequences for PUS1 Gene

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

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

Animal Model 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 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
Jensen Localization Image for PUS1 Gene COMPARTMENTS Subcellular localization image for PUS1 gene
Compartment Confidence
mitochondrion 4
nucleus 4

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 & Interactions for PUS1 Gene

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

Pathways by source for PUS1 Gene

Gene Ontology (GO) - Biological Process for PUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001522 pseudouridine synthesis --
GO:0006400 tRNA modification TAS --
GO:0008033 tRNA processing TAS --
GO:0009451 RNA modification --
GO:0010467 gene expression 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: NovoSeek and HMDB

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
pseudouridine
  • 5-(b-D-Ribofuranosyl)uracil
  • 5-(b-delta-Ribofuranosyl)uracil
  • 5-b-D-Ribofuranosyl-Uracil
  • 5-beta-delta-Ribofuranosyl-Uracil
  • 5-Ribosyluracil
1445-07-4
tRNA
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:

miRNA Products

Inhibitory RNA Products

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

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: - - - - - -
SP10:

Relevant External Links for PUS1 Gene

GeneLoc Exon Structure for
PUS1
ECgene alternative splicing isoforms for
PUS1

Expression for PUS1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for PUS1 Gene



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.
genes like me logo Genes that share expression patterns with PUS1: view

Protein tissue co-expression partners for PUS1 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia PUS1 35
  • 82.73 (n)
  • 82.41 (a)
PUS1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PUS1 35
  • 81.42 (n)
  • 80.14 (a)
PUS1 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pus1 35
  • 82.09 (n)
  • 86.02 (a)
Pus1 16
Pus1 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PUS1 35
  • 98.75 (n)
  • 98.83 (a)
PUS1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pus1 35
  • 81.85 (n)
  • 86.02 (a)
oppossum
(Monodelphis domestica)
Mammalia PUS1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PUS1 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves PUS1 35
  • 74.73 (n)
  • 78.8 (a)
PUS1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PUS1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pus1 35
  • 65.59 (n)
  • 71.77 (a)
Str.9273 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.21080 35
zebrafish
(Danio rerio)
Actinopterygii Dr.29119 35
pus1 35
  • 65.36 (n)
  • 66.11 (a)
pus1 36
  • 58 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5299 35
fruit fly
(Drosophila melanogaster)
Insecta CG4159 37
  • 46 (a)
CG4159 35
  • 57.37 (n)
  • 50 (a)
CG4159 36
  • 38 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002409 35
  • 57.61 (n)
  • 51.04 (a)
worm
(Caenorhabditis elegans)
Secernentea pus-1 35
  • 49.54 (n)
  • 41.64 (a)
pus-1 36
  • 33 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL105C 35
  • 53.57 (n)
  • 40.89 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02244g 35
  • 46.39 (n)
  • 41.69 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS1 35
  • 46.14 (n)
  • 40.55 (a)
PUS1 36
  • 26 (a)
OneToMany
PUS2 36
  • 29 (a)
OneToMany
PUS1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G76120 35
  • 50.45 (n)
  • 43.62 (a)
rice
(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)
OneToOne
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

ENSEMBL:
Gene Tree for PUS1 (if available)
TreeFam:
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
rs3923716 -- 131,927,715(-) GAGGA(G/T)CTGGT upstream-variant-2KB
rs3923717 -- 131,927,588(-) TGAGG(C/T)GGGGG upstream-variant-2KB
rs3923718 -- 131,927,261(-) ATGCC(C/T)GTAAT upstream-variant-2KB
rs4964913 -- 131,927,943(-) GGGCC(G/T)GGGCA upstream-variant-2KB
rs4965004 -- 131,940,155(-) GCTTA(C/T)AGGCT 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

Variation tolerance for PUS1 Gene

Residual Variation Intolerance Score: 29.82% 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

HapMap Linkage Disequilibrium report
PUS1
Human Gene Mutation Database (HGMD)
PUS1

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial myopathy and sideroblastic anemia 1
  • msa
sideroblastic anemia
  • anemia, hypochromic with iron loading
lactic acidosis
  • acidosis lactic
pearson syndrome
  • pearson marrow-pancreas syndrome
protoporphyria, erythropoietic, autosomal recessive
  • erythropoietic protoporphyria
- elite association
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.

Relevant External Links for PUS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J.R. (RNA 1999) 2 23 67
  2. 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) 23 67
  3. Formation of a stalled early intermediate of pseudouridine synthesis monitored by real-time FRET. (PMID: 20106954) Hengesbach M. … Helm M. (RNA 2010) 23 67
  4. 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) 23 67
  5. Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts). (PMID: 16870250) Steensma D.P. … Lasho T.L. (Leuk. Res. 2007) 23 67

Products for PUS1 Gene

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