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    PUS3 pseudouridine synthase 3 [ Homo sapiens (human) ]

    Gene ID: 83480, updated on 9-Dec-2024

    Summary

    Official Symbol
    PUS3provided by HGNC
    Official Full Name
    pseudouridine synthase 3provided by HGNC
    Primary source
    HGNC:HGNC:25461
    See related
    Ensembl:ENSG00000110060 MIM:616283; AllianceGenome:HGNC:25461
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DEG1; MRT55; FKSG32; NEDMIGS; 2610020J05Rik
    Summary
    The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
    Expression
    Ubiquitous expression in liver (RPKM 5.1), appendix (RPKM 3.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PUS3 in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (125893485..125903206, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (125922358..125932075, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125763380..125773101, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene prostate and testis expressed 4 Neighboring gene long intergenic non-protein coding RNA 3136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5702 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4043 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4044 Neighboring gene HYLS1 centriolar and ciliogenesis associated Neighboring gene DEAD-box helicase 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125802853-125803806 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125805158-125805722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4045 Neighboring gene V-set and immunoglobulin domain containing 10 like 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ23638

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables pseudouridine synthase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables pseudouridine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables tRNA pseudouridine(38/39) synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mRNA pseudouridine synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tRNA modification TAS
    Traceable Author Statement
    more info
     
    involved_in tRNA pseudouridine synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tRNA pseudouridine synthesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    tRNA pseudouridine(38/39) synthase
    Names
    pseudouridylate synthase 3
    tRNA pseudouridine synthase 3
    tRNA pseudouridylate synthase 3
    tRNA-uridine isomerase 3
    NP_001258914.1
    NP_112597.4
    XP_005271745.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033067.2 RefSeqGene

      Range
      5000..14721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271985.2NP_001258914.1  tRNA pseudouridine(38/39) synthase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon and uses a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AF325689, AP000842, BC004822, BM786445
      Consensus CDS
      CCDS73411.1
      UniProtKB/TrEMBL
      A0A087WY59
      Related
      ENSP00000481536.1, ENST00000613398.4
      Conserved Domains (1) summary
      cl00130
      Location:1121
      PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)
    2. NM_031307.4NP_112597.4  tRNA pseudouridine(38/39) synthase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP000842
      Consensus CDS
      CCDS8466.1
      UniProtKB/Swiss-Prot
      B2RAM0, Q96D17, Q96J23, Q96NB4, Q9BZE2
      Related
      ENSP00000227474.3, ENST00000227474.8
      Conserved Domains (1) summary
      cd02569
      Location:67329
      PseudoU_synth_ScPus3; Pseudouridine synthase, Saccharomyces cerevisiae Pus3 like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      125893485..125903206 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271688.5XP_005271745.1  tRNA pseudouridine(38/39) synthase isoform X1

      UniProtKB/TrEMBL
      E9PRI9
      Conserved Domains (2) summary
      pfam11853
      Location:1050
      DUF3373; Protein of unknown function (DUF3373)
      cl00130
      Location:67166
      PseudoU_synth; Pseudouridine synthases catalyze the isomerization of specific uridines in an RNA molecule to pseudouridines (5-ribosyluracil, psi)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      125922358..125932075 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)