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PUS1 Gene

protein-coding   GIFtS: 57
GCID: GC12P132413

Pseudouridylate Synthase 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Pseudouridylate Synthase 11 2     Mitochondrial TRNA Pseudouridine Synthase A2
TRNA Pseudouridine(38-40) Synthase2 3     TRNA Pseudouridine Synthase A, Mitochondrial2
TRNA Pseudouridylate Synthase I2 3     TRNA Uridine Isomerase I2
TRNA-Uridine Isomerase I2 3     EC 5.4.99.123
MLASA12 5     

External Ids:    HGNC: 155081   Entrez Gene: 803242   Ensembl: ENSG000001771927   OMIM: 6081095   UniProtKB: Q9Y6063   

Export aliases for PUS1 gene to outside databases

Previous GC identifers: GC00U990923 GC12M131701 GC12P132294 GC12P130908 GC12P131080 GC12P130980 GC12P129299


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 myopathy, lactic acidosis, and sideroblastic anemia 1. GO annotations related to this gene include pseudouridine synthase activity and RNA binding.

UniProtKB/Swiss-Prot: TRUA_HUMAN, Q9Y606
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)

Gene Wiki entry for PUS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the PUS1 gene promoter:
         SRF   STAT1   AML1a   SRF (504 AA)   STAT1beta   LCR-F1   Tal-1beta   STAT1alpha   E47   Pax-3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPUS1 promoter sequence
   Search Chromatin IP Primers for PUS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PUS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.33   Ensembl cytogenetic band:  12q24.33   HGNC cytogenetic band: 12q24

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P132413:  view genomic region     (about GC identifiers)

Start:
132,413,745 bp from pter      End:
132,428,406 bp from pter
Size:
14,662 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TRUA_HUMAN, Q9Y606 (See protein sequence)
Recommended Name: tRNA pseudouridine synthase A, mitochondrial precursor  
Size: 427 amino acids; 47470 Da
Subunit: Forms a complex with RARG and the SRA1 RNA in the nucleus (By similarity)
3 PDB 3D structures from and Proteopedia for PUS1:
4IQM (3D)        4ITS (3D)        4J37 (3D)    
Secondary accessions: A8K877 B3KQC1 Q8WYT2 Q9BU44
Alternative splicing: 2 isoforms:  Q9Y606-1   Q9Y606-2   

Explore the universe of human proteins at neXtProt for PUS1: NX_Q9Y606

Explore proteomics data for PUS1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PUS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001002019.1  NP_001002020.1  NP_079491.2  

    ENSEMBL proteins: 
     ENSP00000392451   ENSP00000365837   ENSP00000324726   ENSP00000438948   ENSP00000440326  
     ENSP00000409705   ENSP00000445819   ENSP00000443969   ENSP00000440179   ENSP00000400032  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR020097 PsdUridine_synth_TruA_a/b_dom
     IPR020103 PsdUridine_synth_cat_dom
     IPR020094 PsdUridine_synth_TruA_N
     IPR020095 PsdUridine_synth_TruA_C
     IPR001406 PsdUridine_synth_TruA

    Graphical View of Domain Structure for InterPro Entry Q9Y606

    ProtoNet protein and cluster: Q9Y606

    1 Blocks protein domain: IPB001406 tRNA pseudouridine synthase

    UniProtKB/Swiss-Prot: TRUA_HUMAN, Q9Y606
    Similarity: Belongs to the tRNA pseudouridine synthase TruA family


    PUS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TRUA_HUMAN, Q9Y606
    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)
    Catalytic activity: tRNA uridine(38-40) = tRNA pseudouridine(38-40)

         Enzyme Number (IUBMB): EC 5.4.99.121

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding ----
    GO:0004730pseudouridylate synthase activity NAS10094309
    GO:0005515protein binding ----
    GO:0009982pseudouridine synthase activity IEA--
         
    PUS1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PUS1:
     Wnt reporter downregulated 

    Animal Models:
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    miRTarBase miRNAs that target PUS1:
    hsa-let-7b-5p (MIRT032213), hsa-mir-124-3p (MIRT022192), hsa-mir-193b-3p (MIRT041439), hsa-mir-98-5p (MIRT027453)

    Block miRNA regulation of human, mouse, rat PUS1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PUS1:
    hsa-miR-544b
    SwitchGear 3'UTR luciferase reporter plasmidPUS1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRUA_HUMAN, Q9Y606: Isoform 1: Mitochondrion
    TRUA_HUMAN, Q9Y606: Isoform 2: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    peroxisome2
    cytosol1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005667transcription factor complex IEA--
    GO:0005730nucleolus IEA--
    GO:0005739mitochondrion IEA--

    PUS1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PUS1
    Interactions:

        Search GeneGlobe Interaction Network for PUS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PUS1 (Q9Y6062, 3 ENSP000003658374) via UniProtKB, MINT, STRING, and/or I2D (see all 364)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALDH18A1P548862, 3MINT-8079030 I2D: score=1 
    MRPL2Q5T6532, 3MINT-8079030 I2D: score=1 
    MRPL3P090012, 3MINT-8079030 I2D: score=1 
    ENSG00000204221O152133I2D: score=5 
    ENSG00000206284O152133I2D: score=5 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001522pseudouridine synthesis ----
    GO:0008033tRNA processing ----
    GO:0009451RNA modification ----
    GO:0031119tRNA pseudouridine synthesis IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--

    PUS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PUS1 (TRUA)

    2 HMDB Compounds for PUS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Pseudouridine5-(b-D-Ribofuranosyl)uracil (see all 12)1445-07-4--
    Uridine1-b-D-Ribofuranosyl-2,4(1H,3H)-pyrimidinedione (see all 9)58-96-8--

    3 Novoseek inferred chemical compound relationships for PUS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudouridine 93.6 21 15108122 (2), 18648068 (2), 15772074 (2), 16804160 (2) (see all 9)
    trna 72.5 5 18648068 (1), 15772074 (1), 17056637 (1)
    uridine 71.2 3 18648068 (1), 17056637 (1)



    PUS1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PUS1 gene (3 alternative transcripts): 
    NM_001002019.2  NM_001002020.2  NM_025215.5  

    Unigene Cluster for PUS1:

    Pseudouridylate synthase 1
    Hs.592004  [show with all ESTs]
    Unigene Representative Sequence: BC035964
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000443358(uc001ujg.3) ENST00000376649(uc001ujf.3) ENST00000322060
    ENST00000542167(uc001uji.3) ENST00000538037 ENST00000544662 ENST00000456665
    ENST00000544213 ENST00000535067 ENST00000537484 ENST00000543754 ENST00000440818(uc001ujh.3)

    miRNA
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    Block miRNA regulation of human, mouse, rat PUS1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PUS1:
    hsa-miR-544b
    SwitchGear 3'UTR luciferase reporter plasmidPUS1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat PUS1
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    Additional mRNA sequence: 

    AF116238.1 AF318369.1 AK074659.1 AK292242.1 BC002901.2 BC009505.2 BC019320.1 BC035964.1 

    15 DOTS entries:

    DT.446313  DT.65288670  DT.100025436  DT.121190804  DT.100704237  DT.100792100  DT.100704238  DT.100733277 
    DT.100792096  DT.121190834  DT.95278212  DT.95278213  DT.100704236  DT.100882099  DT.40197786 

    Selected AceView cDNA sequences (see all 183):

    CA423038 AA766938 BM726285 BM826687 BC002901 AI362628 BM980363 BQ221418 
    BM678376 BM824481 BM713461 BM680891 AW245442 AI696918 BU628832 BM727118 
    CB118952 BC009505 BI060831 BM560889 CB270100 BQ053491 BQ014426 AI862955 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PUS1 (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for PUS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PUS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAGAACTA
    PUS1 Expression
    About this image

    PUS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PUS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592004

    UniProtKB/Swiss-Prot: TRUA_HUMAN, Q9Y606
    Tissue specificity: Widely expressed. High levels of expression found in brain and skeletal muscle

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    QuantiFast Probe-based Assays in human, mouse, rat PUS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PUS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PUS1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pus11 , 5 pseudouridine synthase 11, 5 82.09(n)1
    86.02(a)1
      5 (53.70 cM)5
    563611  NM_001025561.31  NP_001020732.11 
     1107736675 
    chicken
    (Gallus gallus)
    Aves PUS11 pseudouridylate synthase 1 74.73(n)
    78.8(a)
      416799  XM_415090.4  XP_415090.1 
    lizard
    (Anolis carolinensis)
    Reptilia PUS16
    pseudouridylate synthase 1
    73(a)
    1 ↔ 1
    GL343364.1(152557-154663)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.210802 Xenopus laevis transcribed sequence with moderate similarity more 73.52(n)    BU900959.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.291192 Transcribed sequence with weak similarity to protein more 76.16(n)    BQ074258.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG41591 , 3 pseudouridylate synthase3
    CG41591
    46(a)3
    57.37(n)1
    50(a)1
      92F23
    424401  NM_001170193.11  NP_001163664.11 
    worm
    (Caenorhabditis elegans)
    Secernentea pus-11 pus-1 49.54(n)
    41.64(a)
      180123  NM_074841.6  NP_507242.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PUS1(YPL212C)4
    PUS11
    tRNA:pseudouridine synthase, introduces pseudouridines more4
    PUS11
    46.14(n)1
    40.55(a)1
      16(153149-151515)4
    8558891, 4  NP_015112.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G761201 AT1G76120 50.45(n)
    43.62(a)
      843944  NM_106261.2  NP_565126.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g06684001 Os02g0668400 47.68(n)
    38.66(a)
      4330262  NM_001054221.1  NP_001047686.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PUS1 gene
    Selected SIMAP similar genes for PUS1 using alignment to 8 protein entries:     TRUA_HUMAN (see all proteins) (see all similar genes):
    ABI2    C1orf143    TUBA1C    TAF2    ZNF114    EEF1E1
    PFKFB3    ARL6IP5    RQCD1    ZNF257    ADCK1    RBP7
    RHOA    GALK2    DYNC2LI1    IRF2    PTPN22    VPS33A

    PUS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PUS1 (see all 434)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0217884
    Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1)4--see VAR_0217882 R W mis40--------
    VAR_0364474
    A breast cancer sample4--see VAR_0364472 D N mis40--------
    rs1048943711,2
    Cpathogenic1132220713(+) GCGCCC/TGGACA 6 R W mis10--------
    rs1048943721,2
    Cpathogenic1132229809(+) AGGATG/TAGACC 6 E * stg10--------
    rs1441388431,2
    C--129306895(+) CTCAA-/AAAAC 
            
    AAAAC
    3 -- int10--------
    rs1817266561,2
    --132215640(+) TGATCC/GGCCCT 1 -- us2k10--------
    rs1462298201,2
    --132215662(+) AAAGCA/GTTAGG 1 -- us2k10--------
    rs39237181,2
    C,F,A,H--132215673(-) ATGCCC/TGTAAT 2 -- us2k18Minor allele frequency- T:0.45NA WA EA 370
    rs1393156991,2
    C--132215744(+) TACCAC/GAGTTT 3 -- us2k10--------
    rs79787081,2
    C,F,A,H--132215771(+) acataT/Ccggtt 3 -- us2k129Minor allele frequency- C:0.28NS EA NA WA CSA 3192

    HapMap Linkage Disequilibrium report for PUS1 (132413745 - 132428406 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for PUS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2746908CNV Deletion23290073
    nsv942CNV Insertion18451855
    nsv826562CNV Loss20364138
    nsv455804CNV Loss19166990
    dgv1516n71CNV Loss21882294
    esv2751042CNV Gain17911159
    nsv826561CNV Gain20364138
    nsv899699CNV Gain21882294
    nsv455803CNV Gain19166990

    Human Gene Mutation Database (HGMD): PUS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PUS1
    DNA2.0 Custom Variant and Variant Library Synthesis for PUS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608109   
    OMIM disorders: 600462  
    UniProtKB/Swiss-Prot: TRUA_HUMAN, Q9Y606
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 17 diseases for PUS1:    
    About MalaCards
    mitochondrial myopathy and sideroblastic anemia 1    myopathy, lactic acidosis, and sideroblastic anemia 1    sideroblastic anemia    pearson syndrome
    lactic acidosis    x-linked sideroblastic anemia    refractory anemia    myopathy
    mitochondrial disorders    aplastic anemia    intrahepatic cholangiocarcinoma    cholangiocarcinoma
    breast and colorectal cancer    multiple myeloma    myeloma    malaria
    colorectal cancer

    3 diseases from the University of Copenhagen DISEASES database for PUS1:
    Sideroblastic anemia     Mitochondrial myopathy     Pearson syndrome

    PUS1 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for PUS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anemia sideroblastic 94.2 10 15772074 (2), 15971356 (2), 15108122 (1), 17056637 (1)
    mitochondrial myopathies 82.1 7 15772074 (2), 15971356 (2), 15108122 (1)
    acidosis lactic 55.3 4 15971356 (2), 17056637 (1)
    myopathy 42.4 3 15971356 (1), 17056637 (1)


    Export disorders for PUS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PUS1 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with PUS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a mammalian pseudouridine synthase. (PubMed id 10094309)1, 2, 3, 9 Chen J. and Patton J.R. (RNA 1999)
    2. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). (PubMed id 17056637)1, 2, 9 Fernandez-Vizarra E....Zeviani M. (J. Med. Genet. 2007)
    3. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). (PubMed id 15108122)1, 2, 9 Bykhovskaya Y.... Fischel-Ghodsian N. (Am. J. Hum. Genet. 2004)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. (PubMed id 15772074)1, 9 Patton J.R....Fischel-Ghodsian N. (J. Biol. Chem. 2005)
    8. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. (PubMed id 19731322)1, 9 Bergmann A.K....Neufeld E.J. (amp 2010)
    9. Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1. (PubMed id 18648068)1, 9 Sibert B.S....Patton J.R. (RNA 2008)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80324 HGNC: 15508 AceView: PUS1 Ensembl:ENSG00000177192 euGenes: HUgn80324
    ECgene: PUS1 H-InvDB: PUS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PUS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PUS1 gene:
    Search GeneIP for patents involving PUS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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