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PUSL1 Gene

protein-coding   GIFtS: 50
GCID: GC01P001233

Pseudouridylate Synthase-Like 1

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(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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Pseudouridylate Synthase-Like 11 2
TRNA Pseudouridylate Synthase-Like 12 3
TRNA-Uridine Isomerase-Like 12 3
TRNA Pseudouridine Synthase-Like 12
EC 5.4.99.-3

External Ids:    HGNC: 269141   Entrez Gene: 1267892   Ensembl: ENSG000001699727   UniProtKB: Q8N0Z83   
ORGUL members:         

Export aliases for PUSL1 gene to outside databases

Previous GC identifers: GC01P001283 GC01P000515


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PUSL1 Gene:
PUSL1 (pseudouridylate synthase-like 1) is a protein-coding gene. GO annotations related to this gene include pseudouridine synthase activity and RNA binding.


(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 at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PUSL1 gene promoter:
         SRF   Egr-3   HTF   NRSF form 1   NRSF form 2   Evi-1   E47   HEN1   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPUSL1 promoter sequence
   Search Chromatin IP Primers for PUSL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PUSL1


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

Entrez Gene cytogenetic band: 1p36.33   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.33

PUSL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PUSL1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P001233:  view genomic region     (about GC identifiers)

Start:
1,243,947 bp from pter      End:
1,247,057 bp from pter
Size:
3,111 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PUSL1_HUMAN, Q8N0Z8 (See protein sequence)
Recommended Name: tRNA pseudouridine synthase-like 1  
Size: 303 amino acids; 33233 Da
Secondary accessions: B4DP76 Q5TA41
Alternative splicing: 2 isoforms:  Q8N0Z8-1   Q8N0Z8-2   

Explore the universe of human proteins at neXtProt for PUSL1: NX_Q8N0Z8

Explore proteomics data for PUSL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PUSL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_699170.1  
    ENSEMBL proteins: 
     ENSP00000368318   ENSP00000462968  

    PUSL1 Human Recombinant Protein Products:

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    antibodies-online proteins for PUSL1 (4 products) 

     
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    antibodies-online kits for PUSL1 (4 products) 


    (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 Q8N0Z8

    ProtoNet protein and cluster: Q8N0Z8

    1 Blocks protein domain: IPB001406 tRNA pseudouridine synthase

    UniProtKB/Swiss-Prot: PUSL1_HUMAN, Q8N0Z8
    Similarity: Belongs to the tRNA pseudouridine synthase TruA family


    Find genes that share domains with PUSL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PUSL1_HUMAN, Q8N0Z8
    Catalytic activity: tRNA uridine = tRNA pseudouridine

         Enzyme Number (IUBMB): EC 5.4.99.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0009982pseudouridine synthase activity IEA--
         
    Find genes that share ontologies with PUSL1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PUSL1:
     Increased influenza A virus in 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PUSL1

    miRNA
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    Block miRNA regulation of human, mouse, rat PUSL1 using miScript Target Protectors
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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 COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion2
    cytosol1
    nucleus1

    (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 PUSL1
    Interactions:

        Search GeneGlobe Interaction Network for PUSL1

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

    Selected Interacting proteins for PUSL1 (Q8N0Z82, 3 ENSP000003683184) via UniProtKB, MINT, STRING, and/or I2D (see all 279)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    TRUB2O959002, ENSP000003619824MINT-8079030 STRING: ENSP00000361982
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    ABCB7O750272MINT-8079030
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    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001522pseudouridine synthesis IEA--
    GO:0008033tRNA processing IEA--
    GO:0009451RNA modification ----

    Find genes that share ontologies with PUSL1           About GenesLikeMe



    (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 PUSL1

    2 HMDB Compounds for PUSL1    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--



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PUSL1 gene: 
    NM_153339.1  

    Unigene Cluster for PUSL1:

    Pseudouridylate synthase-like 1
    Hs.400659  [show with all ESTs]
    Unigene Representative Sequence: AK027721
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379031(uc001aed.3 uc010nyi.2) ENST00000470520 ENST00000463758
    ENST00000467712 ENST00000493657(uc009vjx.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat PUSL1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PUSL1
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    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PUSL1
      QuantiFast Probe-based Assays in human, mouse, rat PUSL1

    Additional mRNA sequence: 

    AK027721.1 AK075292.1 AK298218.1 BC034304.1 

    11 DOTS entries:

    DT.455178  DT.100862238  DT.100862241  DT.121344490  DT.95164263  DT.100862222  DT.100862236  DT.100862223 
    DT.95163238  DT.97855416  DT.100862242 

    Selected AceView cDNA sequences (see all 52):

    CF131129 NM_153339 BI833278 BG740556 BM915585 BE549253 BC034304 CR604312 
    BE264807 AK075292 BM925999 BQ013269 AI954501 BM014355 AW510920 BG767694 
    BX397240 CA421679 BV178533 BX327156 AA644009 CB241496 AA922106 BE253348 

    GeneLoc Exon Structure


    (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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    PUSL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACACCAAGA
    PUSL1 Expression
    About this image

    PUSL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PUSL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.400659
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    In Situ
    Assay Products:
     

     
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    (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 PUSL1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pusl11 , 5 pseudouridylate synthase-like 11, 5 80.64(n)1
    80.41(a)1
      4 (87.66 cM)5
    4338131  NM_001033490.11  NP_001028662.11 
     1558878795 
    chicken
    (Gallus gallus)
    Aves PUSL11 pseudouridylate synthase-like 1 55.99(n)
    53.17(a)
      419419  NM_001277883.1  NP_001264812.1 
    lizard
    (Anolis carolinensis)
    Reptilia PUSL16
    pseudouridylate synthase-like 1
    53(a)
    1 ↔ 1
    GL343760.1(144905-188130)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pusl11 pseudouridylate synthase-like 1 56.56(n)
    53.79(a)
      100497905  XM_002938614.2  XP_002938660.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5558281 tRNA pseudouridine synthase-like 1-like 53.01(n)
    49.82(a)
      555828  XM_678471.6  XP_683563.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG341401 CG34140 47.78(n)
    37.64(a)
      4379908  NM_001043109.1  NP_001036574.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G098001 AT1G09800 44.4(n)
    41.98(a)
      837510  NM_100853.3  NP_172451.2 
    rice
    (Oryza sativa)
    Liliopsida Os12g01948001 Os12g0194800 46.31(n)
    45.04(a)
      4351716  NM_001072884.1  NP_001066352.1 


    ENSEMBL Gene Tree for PUSL1 (if available)
    TreeFam Gene Tree for PUSL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 PUSL1 (see all 812)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3702504121,2
    C--1209414(+) TCCGT-/CCCCCGT 1 -- us2k10--------
    rs19773461,2
    C--1209515(+) GTGTCC/TCTGCT 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs19773471,2
    C--1209520(+) CCTGCC/TCCGTC 1 -- us2k10--------
    rs19773481,2
    C--1209523(+) GCTCCC/GTCCCG 1 -- us2k10--------
    rs577336241,2
    C--1209538(+) TCTGCC/TCCGTC 1 -- us2k11Minor allele frequency- T:0.00EU 685
    rs2012161061,2
    C,F--1209541(+) GCCCCG/ACCCCC 1 -- us2k11Minor allele frequency- A:0.01EU 711
    rs2018471891,2
    C,F--1209548(+) CCCCCA/GGTCTC 1 -- us2k11Minor allele frequency- G:0.00EU 835
    rs15708661,2
    C,F--1209556(+) TCTCCG/ACTCCA 1 -- us2k15Minor allele frequency- A:0.10CSA WA NA EA EU 1273
    rs27483841,2
    C,F--1209585(+) CCCCCC/ATGTCC 1 -- us2k19Minor allele frequency- A:0.22NA WA CSA EA EU 1512
    rs1379113091,2
    --1209641(+) CTGCTC/TCTGTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PUSL1 (1243947 - 1247057 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PUSL1 (see all 30):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv37n71CNV Loss21882294
    dgv17n71CNV Loss21882294
    nsv470680CNV Loss18288195
    nsv870639CNV Loss21882294
    dgv29n71CNV Loss21882294
    dgv36n71CNV Loss21882294
    dgv35n71CNV Loss21882294
    nsv482937CNV Loss15286789
    dgv12n71CNV Loss21882294
    dgv25n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PUSL1
    DNA2.0 Custom Variant and Variant Library Synthesis for PUSL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    (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 PUSL1 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with PUSL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    5. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    8. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (EMBO J. 2010)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      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: 126789 HGNC: 26914 AceView: PUSL1 Ensembl:ENSG00000169972 euGenes: HUgn126789
    ECgene: PUSL1 H-InvDB: PUSL1

    (According to HUGE)
    About This Section

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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 PUSL1 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 PUSL1 gene:
    Search GeneIP for patents involving PUSL1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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