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    PUS1 pseudouridine synthase 1 [ Homo sapiens (human) ]

    Gene ID: 80324, updated on 5-May-2024

    Summary

    Official Symbol
    PUS1provided by HGNC
    Official Full Name
    pseudouridine synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:15508
    See related
    Ensembl:ENSG00000177192 MIM:608109; AllianceGenome:HGNC:15508
    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
    MLASA1
    Summary
    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]
    Expression
    Ubiquitous expression in appendix (RPKM 5.5), lymph node (RPKM 5.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    12q24.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (131929276..131945896)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (131977320..131993946)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (132413821..132430441)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5102 Neighboring gene Sharpr-MPRA regulatory region 8404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132381351-132382148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132384711-132385228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132385229-132385746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132385901-132386674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132386675-132387447 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25936 Neighboring gene unc-51 like autophagy activating kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7373 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:132409300-132410176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5107 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25941 Neighboring gene PUS1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 9670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132434951-132435658 Neighboring gene Sharpr-MPRA regulatory region 13568 Neighboring gene E1A binding protein p400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132470576-132471195 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132471868-132472518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132473169-132473818 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:132490339-132491538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132498351-132499144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132499145-132499938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132499948-132500448 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:132508440-132509639 Neighboring gene Sharpr-MPRA regulatory region 9648 Neighboring gene small nucleolar RNA, H/ACA box 49 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132534021-132534992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132567429-132567930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5111 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132569347-132570207 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:132570983-132571159 Neighboring gene EP400 pseudogene 1 Neighboring gene uncharacterized LOC107987169

    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

    • MGC11268

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA pseudouridine synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mRNA pseudouridine synthesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrial tRNA pseudouridine synthesis 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
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    pseudouridylate synthase 1 homolog
    Names
    mitochondrial tRNA pseudouridine synthase A
    pseudouridylate synthase 1
    tRNA pseudouridine synthase 1
    tRNA pseudouridine synthase A, mitochondrial
    tRNA pseudouridine(38-40) synthase
    tRNA pseudouridylate synthase I
    tRNA uridine isomerase I
    NP_001002019.1
    NP_001002020.1
    NP_079491.2

    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_013039.2 RefSeqGene

      Range
      5002..21622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001002019.3NP_001002019.1  pseudouridylate synthase 1 homolog isoform 2

      See identical proteins and their annotated locations for NP_001002019.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AC131009, AF116238, AI566545, BM923133, BX340929
      Consensus CDS
      CCDS31928.1
      UniProtKB/TrEMBL
      E5KMT6, G8JLB3
      Conserved Domains (2) summary
      cd02568
      Location:60312
      PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
      COG0101
      Location:56335
      TruA; tRNA U38,U39,U40 pseudouridine synthase TruA [Translation, ribosomal structure and biogenesis]
    2. NM_001002020.3NP_001002020.1  pseudouridylate synthase 1 homolog isoform 2

      See identical proteins and their annotated locations for NP_001002020.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AC131009, AI566545, BC002901, CB118952
      Consensus CDS
      CCDS31928.1
      UniProtKB/TrEMBL
      E5KMT6, G8JLB3
      Related
      ENSP00000392451.2, ENST00000443358.6
      Conserved Domains (2) summary
      cd02568
      Location:60312
      PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
      COG0101
      Location:56335
      TruA; tRNA U38,U39,U40 pseudouridine synthase TruA [Translation, ribosomal structure and biogenesis]
    3. NM_025215.6NP_079491.2  pseudouridylate synthase 1 homolog isoform 1

      See identical proteins and their annotated locations for NP_079491.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC131009, AI566545, AK074659
      Consensus CDS
      CCDS9275.2
      UniProtKB/Swiss-Prot
      A8K877, B3KQC1, Q8WYT2, Q9BU44, Q9Y606
      UniProtKB/TrEMBL
      E5KMT5, G8JLB3
      Related
      ENSP00000365837.3, ENST00000376649.8
      Conserved Domains (2) summary
      cd02568
      Location:88340
      PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
      COG0101
      Location:84363
      TruA; tRNA U38,U39,U40 pseudouridine synthase TruA [Translation, ribosomal structure and biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      131929276..131945896
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      131977320..131993946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)