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Usp53 Gene Detail
Summary
  • Symbol
    Usp53
  • Name
    ubiquitin specific peptidase 53
  • Synonyms
    mbo, mKIAA1350, Phxr3, Sp6
  • Feature Type
    protein coding gene
  • IDs
    MGI:2139607
    NCBI Gene: 99526
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:122725142-122778159 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 53.75 cM, cytoband G3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1381 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2139607
 protein coding gene Chr3:122725142-122778184 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027845
 protein coding gene Chr3:125225160-125289144 (-)
A/J MGP_AJ_G0027804
 protein coding gene Chr3:121036085-121089039 (-)
AKR/J MGP_AKRJ_G0027769
 protein coding gene Chr3:124127260-124180455 (-)
BALB/cJ MGP_BALBcJ_G0027816
 protein coding gene Chr3:120847319-120900013 (-)
C3H/HeJ MGP_C3HHeJ_G0027546
 protein coding gene Chr3:124520531-124574632 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028261
 protein coding gene Chr3:129764360-129816962 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025598
 protein coding gene Chr3:116458563-116512312 (-)
CAST/EiJ MGP_CASTEiJ_G0027001
 protein coding gene Chr3:123919472-123973431 (-)
CBA/J MGP_CBAJ_G0027521
 protein coding gene Chr3:134158204-134220900 (-)
DBA/2J MGP_DBA2J_G0027662
 protein coding gene Chr3:120159454-120215968 (-)
FVB/NJ MGP_FVBNJ_G0027630
 protein coding gene Chr3:117775636-117832055 (-)
LP/J MGP_LPJ_G0027772
 protein coding gene Chr3:126740130-126795799 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027660
 protein coding gene Chr3:141703463-141775349 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028317
 protein coding gene Chr3:123677668-123735810 (-)
PWK/PhJ MGP_PWKPhJ_G0026727
 protein coding gene Chr3:119890546-119944677 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026551
 protein coding gene Chr3:121780304-121835189 (-)
WSB/EiJ MGP_WSBEiJ_G0027081
 protein coding gene Chr3:124420935-124477322 (-)



Homology
more
  • Human Ortholog
    USP53, ubiquitin specific peptidase 53
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    USP53, ubiquitin specific peptidase 53
  • Synonyms
    PFIC7
  • Links
    NCBI Gene ID: 54532
    neXtProt AC: NX_Q70EK8
    UniProt: Q70EK8

  • Chr Location
    4q26; chr4:119212587-119295518 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human USP53 associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 2 alleles in 3 genetic backgrounds
    16 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.
Homozygotes for an ENU-induced allele show progressive hearing loss associated with altered cochlear outer hair cell (OHC) morphology, reduced endocochlear potential, and early OHC loss followed by IHC and spiral ganglion degeneration. Heterozygotes are susceptible to noise-induced hearing loss.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    5
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
    731
  • Tissues
    6
  • cDNA Data
    52
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039701 Ensembl Gene Model | MGI Sequence Detail 53018 C57BL/6J ±  kb
    transcript ENSMUST00000090379 Ensembl | MGI Sequence Detail 6185 Not Applicable  
    polypeptide ENSMUSP00000087857 Ensembl | MGI Sequence Detail 1069 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000017192 inactive ubiquitin carboxyl-terminal hydrolase 53
      (term hierarchy)
    • InterPro Domains
      IPR052398 Inactive ubiquitin carboxyl-terminal hydrolase
      IPR038765 Papain-like cysteine peptidase superfamily
      IPR001394 Peptidase C19, ubiquitin carboxyl-terminal hydrolase
      IPR028889 Ubiquitin specific protease domain
    Molecular
    Reagents
    less
    • All nucleic 54
      Genomic 1
      cDNA 53

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-25954, MGI:104523, MGI:3708148
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 5
      Phenotypes 16
    • Earliest
      J:20253 Nishimatsu S, et al., Mouse spleen derived cDNA clones containing per repeat sequence. Nucleic Acids Res. 1988 Dec 23;16(24):11831-2
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory