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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
  • Gene Overview
    MyGene.info: PUS1
Location & Maps
more
  • Sequence Map
    Chr5:110773667-110780659 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6993 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 53.70 cM, cytoband F
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PUS1, pseudouridylate synthase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PUS1, pseudouridylate synthase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MLASA1
  • Links
    NCBI Gene ID: 80324
    neXtProt AC: NX_Q9Y606
    UniProt: Q9Y606

  • Chr Location
    12q24.33; chr12:131929200-131944040 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Pus1 mouse models; 1 with human PUS1 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    15 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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023691 VEGA Gene Model | MGI Sequence Detail 6993 C57BL/6J ±  kb
transcript OTTMUST00000057852 VEGA | MGI Sequence Detail 1868 Not Applicable  
polypeptide OTTMUSP00000027966 VEGA | MGI Sequence Detail 441 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    31 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 51
    cDNA 51

    Microarray probesets 4
Other
Accession IDs
less
MGI:2443494
References
more
  • Summaries
    All 42
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 7
    Phenotypes 15
  • 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:237107 Mangum JE, et al., Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. Sci Rep. 2016 May 20;6:26202

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/18/2017
MGI 6.08
The Jackson Laboratory