U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Pus1 pseudouridine synthase 1 [ Mus musculus (house mouse) ]

Gene ID: 56361, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Pus1provided by MGI
Official Full Name
pseudouridine synthase 1provided by MGI
Primary source
MGI:MGI:1929237
See related
Ensembl:ENSMUSG00000029507 AllianceGenome:MGI:1929237
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
MPUS1; mPus1p; A730013B20Rik
Summary
Enables chromatin binding activity; nuclear receptor coactivator activity; and tRNA pseudouridine synthase activity. Acts upstream of or within positive regulation of transcription by RNA polymerase II and tRNA pseudouridine synthesis. Located in nucleolus. Part of transcription regulator complex. Used to study myopathy, lactic acidosis, and sideroblastic anemia. Human ortholog(s) of this gene implicated in myopathy, lactic acidosis, and sideroblastic anemia 1. Orthologous to human PUS1 (pseudouridine synthase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in large intestine adult (RPKM 13.1), liver E14 (RPKM 13.0) and 28 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
5 F; 5 53.7 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (110921533..110928523, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (110773667..110780649, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene E1A binding protein p400 Neighboring gene predicted gene, 26079 Neighboring gene predicted gene, 22583 Neighboring gene STARR-positive B cell enhancer ABC_E2169 Neighboring gene predicted gene 15559 Neighboring gene STARR-seq mESC enhancer starr_13967 Neighboring gene unc-51 like kinase 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:111239028-111239211 Neighboring gene STARR-seq mESC enhancer starr_13969 Neighboring gene ES cell cis-regulatory motif 10b Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:111268841-111269029 Neighboring gene HscB iron-sulfur cluster co-chaperone

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. Mangum JE, et al. Sci Rep, 2016 May 20. PMID 27197761, Free PMC Article
  2. Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling. Zhao X, et al. Mol Endocrinol, 2007 Mar. PMID 17170069
  3. Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA. Chen J, et al. Biochem J, 2000 Dec 1. PMID 11085940, Free PMC Article
  4. Cloning and characterization of a mammalian pseudouridine synthase. Chen J, et al. RNA, 1999 Mar. PMID 10094309, Free PMC Article
  5. Pseudouridine synthase 3 from mouse modifies the anticodon loop of tRNA. Chen J, et al. Biochemistry, 2000 Oct 17. PMID 11027153

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Collectively, these results suggest that alterations in muscle metabolism related to mitochondrial content and oxidative capacity may account for the reduced exercise capacity in Pus1(-/-) mice.
    Title: Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.
  2. Pus1p- and Pus3p-dependent pseudouridylation of SRA controls a coactivator-corepressor switch in SRA with major consequences for NR signaling.
    Title: Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling.
  3. Results identify a pseudouridine synthase, mPus1p, as a coactivator for retinoic acid receptor (mRAR)gamma when coexpressed with steroid receptor RNA activator.
    Title: Regulation of nuclear receptor activity by a pseudouridine synthase through posttranscriptional modification of steroid receptor RNA activator.
Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (1)  1 citation
  • Endonuclease-mediated (4) 

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables nuclear receptor coactivator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables pseudouridine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pseudouridine synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables pseudouridine synthase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables pseudouridine synthase activity ISO
Inferred from Sequence Orthology
more info
  
enables steroid receptor RNA activator RNA binding ISO
Inferred from Sequence Orthology
more info
  
enables tRNA binding ISO
Inferred from Sequence Orthology
more info
  
enables tRNA pseudouridine synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables tRNA pseudouridine(38-40) synthase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in RNA modification IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within RNA splicing IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within 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 ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pseudouridine synthesis IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within tRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in tRNA pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within tRNA pseudouridine synthesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tRNA pseudouridine synthesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tRNA pseudouridine synthesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in tRNA pseudouridine synthesis ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
part_of transcription regulator complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
pseudouridylate synthase 1 homolog
Names
tRNA pseudouridine synthase 1
tRNA pseudouridine synthase A, mitochondrial
tRNA pseudouridine(38-40) synthase
tRNA pseudouridylate synthase I
tRNA-uridine isomerase I
NP_001020732.1
NP_001020733.1
NP_001334319.1
NP_001346147.1
NP_001346148.1
NP_062674.2
XP_006535211.1
XP_017176503.1
XP_017176504.1
XP_036021224.1
XP_036021225.1
XP_036021226.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

  1. NM_001025561.3 → NP_001020732.1  pseudouridylate synthase 1 homolog isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC161348
    Consensus CDS
    CCDS19530.1
    UniProtKB/TrEMBL
    H7BX59, Q3TT85
    Related
    ENSMUSP00000083844.6, ENSMUST00000086643.12
    Conserved Domains (2) summary
    cd02568
    Location:84 → 354
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
    COG0101
    Location:80 → 377
    TruA; tRNA U38,U39,U40 pseudouridine synthase TruA [Translation, ribosomal structure and biogenesis]

  2. NM_001025562.2 → NP_001020733.1  pseudouridylate synthase 1 homolog isoform 3

    See identical proteins and their annotated locations for NP_001020733.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and 5' coding region and lacks an in-frame segment in the coding region, as compared to variant 1. These differences cause translation initiation at a downstream AUG and an encoded protein (isoform 3) that is shorter than isoform 1. Variants 3 and 6 both encode the same isoform (3).
    Source sequence(s)
    AF116237, BY174054, CF618003
    Consensus CDS
    CCDS39212.1
    UniProtKB/TrEMBL
    Q3TT85
    Related
    ENSMUSP00000130814.2, ENSMUST00000170468.8
    Conserved Domains (1) summary
    cd02568
    Location:54 → 306
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like

  3. NM_001347390.1 → NP_001334319.1  pseudouridylate synthase 1 homolog isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR and 5' coding region and lacks two in-frame segments in the coding region, as compared to variant 1. These differences cause translation initiation at a downstream AUG and an encoded protein (isoform 4) that is shorter than isoform 1.
    Source sequence(s)
    AC161348
    Consensus CDS
    CCDS84929.1
    UniProtKB/TrEMBL
    Q3TT85
    Related
    ENSMUSP00000108045.2, ENSMUST00000112426.8

  4. NM_001359218.1 → NP_001346147.1  pseudouridylate synthase 1 homolog isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC161348
    UniProtKB/TrEMBL
    Q3TT85
    Conserved Domains (1) summary
    cd02568
    Location:54 → 324
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like

  5. NM_001359219.1 → NP_001346148.1  pseudouridylate synthase 1 homolog isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and lacks an alternate internal segment compared to variant 1. Variants 3 and 6 both encode the same isoform (3).
    Source sequence(s)
    AC161348, AK161521
    Consensus CDS
    CCDS39212.1
    UniProtKB/TrEMBL
    Q3TT85
    Related
    ENSMUSP00000031481.7, ENSMUST00000031481.13
    Conserved Domains (1) summary
    cd02568
    Location:54 → 306
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like

  6. NM_019700.4 → NP_062674.2  pseudouridylate synthase 1 homolog isoform 2

    See identical proteins and their annotated locations for NP_062674.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform 2 thus lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    BU515425, BY331510, CB059120, CF618003
    Consensus CDS
    CCDS19531.1
    UniProtKB/Swiss-Prot
    Q3UUC6, Q791J1, Q8C250, Q8VDQ3, Q9EQD1, Q9JJE5, Q9WU56
    UniProtKB/TrEMBL
    Q3TT85
    Related
    ENSMUSP00000031483.9, ENSMUST00000031483.15
    Conserved Domains (2) summary
    cd02568
    Location:84 → 336
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
    COG0101
    Location:80 → 359
    TruA; tRNA U38,U39,U40 pseudouridine synthase TruA [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    110921533..110928523 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036165333.1 → XP_036021226.1  pseudouridylate synthase 1 homolog isoform X1

    UniProtKB/TrEMBL
    Q3TT85
    Conserved Domains (1) summary
    cd02568
    Location:54 → 324
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like

  2. XM_017321015.3 → XP_017176504.1  pseudouridylate synthase 1 homolog isoform X2

    UniProtKB/TrEMBL
    Q3TT85
    Conserved Domains (1) summary
    cd02568
    Location:54 → 306
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like

  3. XM_036165332.1 → XP_036021225.1  pseudouridylate synthase 1 homolog isoform X1

    UniProtKB/TrEMBL
    Q3TT85
    Conserved Domains (1) summary
    cd02568
    Location:54 → 324
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like

  4. XM_017321014.2 → XP_017176503.1  pseudouridylate synthase 1 homolog isoform X2

    UniProtKB/TrEMBL
    Q3TT85
    Conserved Domains (1) summary
    cd02568
    Location:54 → 306
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like

  5. XM_036165331.1 → XP_036021224.1  pseudouridylate synthase 1 homolog isoform X1

    UniProtKB/TrEMBL
    Q3TT85
    Conserved Domains (1) summary
    cd02568
    Location:54 → 324
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like

  6. XM_006535148.3 → XP_006535211.1  pseudouridylate synthase 1 homolog isoform X3

    UniProtKB/TrEMBL
    Q3TT85
    Conserved Domains (1) summary
    cd02568
    Location:84 → 290
    PseudoU_synth_PUS1_PUS2; Pseudouridine synthase, PUS1/ PUS2 like
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9WU56.2 GenPept UniProtKB/Swiss-Prot:Q9WU56

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous