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Pus1 Gene Detail
Summary
  • Symbol
    Pus1
  • Name
    pseudouridine synthase 1
  • Synonyms
    A730013B20Rik, MPUS1, mPus1p
  • Feature Type
    protein coding gene
  • IDs
    MGI:1929237
    NCBI Gene: 56361
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:110921533-110928523 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 53.70 cM, cytoband F
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    179 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1929237
 protein coding gene Chr5:110921533-110928525 (-)
129S1/SvImJ ENSMUSG00200022583
 protein coding gene Chr5:104689096-104696101 (-)
A/J ENSMUSG00195030119
 protein coding gene Chr5:104171865-104178862 (-)
AKR/J ENSMUSG00220043657
 protein coding gene Chr5:103691712-103698708 (-)
BALB/cJ ENSMUSG00180038939
 protein coding gene Chr5:104323608-104330605 (-)
C3H/HeJ ENSMUSG00175035649
 protein coding gene Chr5:106309616-106316616 (-)
C57BL/6NJ ENSMUSG00215017873
 protein coding gene Chr5:104319049-104326039 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027551
 protein coding gene Chr5:103699097-103706131 (-)
CAST/EiJ ENSTCUG00005029933
 protein coding gene Chr5:103503216-103510237 (-)
CBA/J ENSMUSG00210042051
 protein coding gene Chr5:105061762-105068762 (-)
DBA/2J ENSMUSG00185043586
 protein coding gene Chr5:108088766-108095761 (-)
FVB/NJ ENSMUSG00205027890
 protein coding gene Chr5:103961297-103968293 (-)
JF1/MsJ ENSUMUG00000007479
 protein coding gene Chr5:110939410-110946491 (-)
LP/J ENSMUSG00230047895
 protein coding gene Chr5:112227562-112234566 (-)
NOD/ShiLtJ ENSMUSG00190043639
 protein coding gene Chr5:103997475-104004471 (-)
NZO/HlLtJ ENSMUSG00225024785
 protein coding gene Chr5:119849412-119856416 (-)
PWK/PhJ ENSLUMG00010028675
 protein coding gene Chr5:102846066-102853196 (-)
SPRET/EiJ ENSMSPG00010044166
 protein coding gene Chr5:106095672-106102800 (-)
WSB/EiJ ENSIUOG00005040778
 protein coding gene Chr5:106701055-106708050 (-)



Homology
more
  • Human Ortholog
    PUS1, pseudouridine synthase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PUS1, pseudouridine synthase 1
  • Synonyms
    MLASA1
  • Links
    NCBI Gene ID: 80324
    UniProt: Q9Y606

  • Chr Location
    12q24.33; chr12:131929200-131945896 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Pus1 mouse models; 1 with human PUS1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    27 phenotypes from 3 alleles in 3 genetic backgrounds
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit slow postnatal weight gain, impaired exercise endurance, and alterations in muscle metabolism related to mitochondrial content and oxidative capacity. Homozygosity for the disease-related p.R110W mutation affects erythropoiesis and leads to anemia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    60
  • GO References
    14
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    597
  • cDNA Data
    51
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 56361 NCBI Gene Model | MGI Sequence Detail 6991 C57BL/6J ±  kb
    transcript NM_001025561 RefSeq | MGI Sequence Detail 1868 C57BL/6  
    polypeptide Q9WU56 UniProt | EBI | MGI Sequence Detail 423 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 52
      cDNA 52

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2443494
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 14
      Phenotypes 24
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:372471 Wang F, et al., Pseudouridine synthase 1-targeted therapy activates antiviral immunity to boost cancer immunotherapy. Cell Rep. 2025 Sep 3;44(9):116233
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory