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Usp48 Gene Detail
Summary
  • Symbol
    Usp48
  • Name
    ubiquitin specific peptidase 48
  • Synonyms
    2810449C13Rik, D330022K21Rik, MGC:25724, Usp31
  • Feature Type
    protein coding gene
  • IDs
    MGI:2158502
    NCBI Gene: 170707
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:137321079-137385842 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 70.00 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1760 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2158502
 protein coding gene Chr4:137321066-137385848 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028985
 protein coding gene Chr4:140247612-140314717 (+)
A/J MGP_AJ_G0028944
 protein coding gene Chr4:134277406-134343192 (+)
AKR/J MGP_AKRJ_G0028896
 protein coding gene Chr4:138130227-138195991 (+)
BALB/cJ MGP_BALBcJ_G0028968
 protein coding gene Chr4:134957636-135025237 (+)
C3H/HeJ MGP_C3HHeJ_G0028682
 protein coding gene Chr4:138471104-138542616 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029409
 protein coding gene Chr4:145245520-145316036 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026680
 protein coding gene Chr4:127283186-127348335 (+)
CAST/EiJ MGP_CASTEiJ_G0028114
 protein coding gene Chr4:136605630-136675761 (+)
CBA/J MGP_CBAJ_G0028647
 protein coding gene Chr4:149349773-149429482 (+)
DBA/2J MGP_DBA2J_G0028796
 protein coding gene Chr4:134672767-134738602 (+)
FVB/NJ MGP_FVBNJ_G0028763
 protein coding gene Chr4:133667125-133733873 (+)
LP/J MGP_LPJ_G0028895
 protein coding gene Chr4:140332914-140402219 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028789
 protein coding gene Chr4:153369380-153437728 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029447
 protein coding gene Chr4:138606921-138673202 (+)
PWK/PhJ MGP_PWKPhJ_G0027834
 protein coding gene Chr4:131496163-131563358 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027660
 protein coding gene Chr4:134385316-134458012 (+)
WSB/EiJ MGP_WSBEiJ_G0028192
 protein coding gene Chr4:138820729-138891568 (+)



Homology
more
  • Human Ortholog
    USP48, ubiquitin specific peptidase 48
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    USP48, ubiquitin specific peptidase 48
  • Synonyms
    DFNA85, RAP1GA1, USP31
  • Links
    NCBI Gene ID: 84196
    neXtProt AC: NX_Q86UV5
    UniProt: Q86UV5

  • Chr Location
    1p36.12; chr1:21678298-21783606 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human USP48 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    8
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
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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
    762
  • Tissues
    20
  • cDNA Data
    184
  • Literature Summary
    1
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 170707 NCBI Gene Model | MGI Sequence Detail 64764 C57BL/6J ±  kb
transcript NM_001405937 RefSeq | MGI Sequence Detail 5766 C57BL/6  
polypeptide Q3V0C5 UniProt | EBI | MGI Sequence Detail 1052 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    14 Sequences
  • Protein Ontology
    PR:000017187 ubiquitin carboxyl-terminal hydrolase 48
    (term hierarchy)
  • EC
    3.4.19.12
  • InterPro Domains
    IPR035927 DUSP-like superfamily
    IPR038765 Papain-like cysteine peptidase superfamily
    IPR001394 Peptidase C19, ubiquitin carboxyl-terminal hydrolase
    IPR006615 Peptidase C19, ubiquitin-specific peptidase, DUSP domain
    IPR050164 Ubiquitin carboxyl-terminal hydrolases
    IPR000626 Ubiquitin-like domain
    IPR029071 Ubiquitin-like domain superfamily
    IPR033841 Ubiquitin-specific peptidase 48
    IPR044743 Ubiquitin-specific-processing protease 48, Ubl domain
    IPR018200 Ubiquitin specific protease, conserved site
    IPR028889 Ubiquitin specific protease domain
  • GlyGen
    Q3V0C5 1 site, 1 N-linked glycan (1 site)
Molecular
Reagents
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  • All nucleic 186
    cDNA 184
    Primer pair 1
    Other 1

    Microarray probesets 7
Other
Accession IDs
less
MGI:1920015, MGI:2140189, MGI:2445055
References
more
  • Summaries
    All 50
    Developmental Gene Expression 1
    Gene Ontology 8
    Phenotypes 17
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:335075 Ren Y, et al., USP48 Stabilizes Gasdermin E to Promote Pyroptosis in Cancer. Cancer Res. 2023 Apr 4;83(7):1074-1093
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
12/10/2024
MGI 6.24 		The Jackson Laboratory