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Usp48 ubiquitin specific peptidase 48 [ Mus musculus (house mouse) ]

Gene ID: 170707, updated on 27-Nov-2024

Summary

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Official Symbol
Usp48provided by MGI
Official Full Name
ubiquitin specific peptidase 48provided by MGI
Primary source
MGI:MGI:2158502
See related
Ensembl:ENSMUSG00000043411 AllianceGenome:MGI:2158502
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
Usp31; 2810449C13Rik; D330022K21Rik
Summary
Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of protein stability. Predicted to be located in mitochondrion; nucleoplasm; and postsynaptic membrane. Predicted to be active in cytosol and nucleus. Is expressed in several structures, including germ cell of testis; intestine; liver and biliary system; salivary gland; and thymus. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness. Orthologous to human USP48 (ubiquitin specific peptidase 48). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in CNS E18 (RPKM 12.6), CNS E14 (RPKM 11.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Usp48 in Genome Data Viewer
Location:
4 D3; 4 70.0 cM
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (137321079..137385842)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (137594120..137658537)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene perlecan (heparan sulfate proteoglycan 2) Neighboring gene microRNA 7018 Neighboring gene low density lipoprotein receptor class A domain containing 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:137149587-137149696 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:137150478-137150661 Neighboring gene STARR-seq mESC enhancer starr_11788 Neighboring gene predicted gene, 54263 Neighboring gene Rap1 GTPase-activating protein Neighboring gene RAP1 GTPase activating protein, opposite strand Neighboring gene predicted gene, 52682

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. USP48 alleviates bone cancer pain and regulates MrgC stabilization in spinal cord neurons of male mice. Yu J, et al. Eur J Pain, 2023 Jul. PMID 36864656
  2. Immunohistochemical detection of FLAG-tagged endogenous proteins in knock-in mice. Ferrando RE, et al. J Histochem Cytochem, 2015 Apr. PMID 25575566, Free PMC Article
  3. Dopamine D3 receptor inhibits the ubiquitin-specific peptidase 48 to promote NHE3 degradation. Armando I, et al. FASEB J, 2014 Mar. PMID 24308971, Free PMC Article
  4. Upregulation of μ3A Drives Homeostatic Plasticity by Rerouting AMPAR into the Recycling Endosomal Pathway. Steinmetz CC, et al. Cell Rep, 2016 Sep 6. PMID 27568566, Free PMC Article
  5. USP48 Is Upregulated by Mettl14 to Attenuate Hepatocellular Carcinoma via Regulating SIRT6 Stabilization. Du L, et al. Cancer Res, 2021 Jul 15. PMID 33903120

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. USP48 alleviates bone cancer pain and regulates MrgC stabilization in spinal cord neurons of male mice.
    Title: USP48 alleviates bone cancer pain and regulates MrgC stabilization in spinal cord neurons of male mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (5) 
  • Targeted (4)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC25724

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cysteine-type deubiquitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cysteine-type deubiquitinase activity IEA
Inferred from Electronic Annotation
more info
  
enables cysteine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables deubiquitinase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in protein deubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein stability IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in postsynaptic membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
ubiquitin carboxyl-terminal hydrolase 48
Names
deubiquitinating enzyme 48
ubiquitin specific protease 31
ubiquitin specific protease 48
ubiquitin thioesterase 48
ubiquitin thiolesterase 48
ubiquitin-specific-processing protease 48
NP_001334156.1
NP_001342517.1
NP_001392866.1
NP_001392867.1
NP_001392868.1
NP_001392869.1
NP_001392871.1
NP_001392872.1
NP_001392873.1
NP_001392880.1
NP_001392881.1
NP_001392882.1
NP_001392883.1
NP_001392884.1
NP_570949.2
XP_006538669.1
XP_006538670.1
XP_017175496.1
XP_017175500.1
XP_017175501.1
XP_036019665.1
XP_036019666.1
XP_036019667.1
XP_036019668.1
XP_036019669.1
XP_036019670.1

NCBI Reference Sequences (RefSeq)

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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_001347227.3 → NP_001334156.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694
    Consensus CDS
    CCDS84808.1
    UniProtKB/TrEMBL
    A2ALR9
    Related
    ENSMUSP00000101466.2, ENSMUST00000105840.8

  2. NM_001355588.2 → NP_001342517.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694
    Conserved Domains (3) summary
    cd01795
    Location:928 → 1034
    USP48_C; USP ubiquitin-specific protease
    cd02668
    Location:90 → 418
    Peptidase_C19L; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
    pfam06337
    Location:483 → 553
    DUSP; DUSP domain

  3. NM_001405937.1 → NP_001392866.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

  4. NM_001405938.1 → NP_001392867.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

  5. NM_001405939.1 → NP_001392868.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

  6. NM_001405940.1 → NP_001392869.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

  7. NM_001405942.1 → NP_001392871.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

  8. NM_001405943.1 → NP_001392872.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

  9. NM_001405944.1 → NP_001392873.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

  10. NM_001405951.1 → NP_001392880.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

  11. NM_001405952.1 → NP_001392881.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

  12. NM_001405953.1 → NP_001392882.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 13

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

  13. NM_001405954.1 → NP_001392883.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694
    UniProtKB/Swiss-Prot
    Q3TM39, Q3V0C5, Q571J9, Q8VDJ1

  14. NM_001405955.1 → NP_001392884.1  ubiquitin carboxyl-terminal hydrolase 48 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

  15. NM_130879.4 → NP_570949.2  ubiquitin carboxyl-terminal hydrolase 48 isoform 1

    See identical proteins and their annotated locations for NP_570949.2

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694
    Consensus CDS
    CCDS38924.1
    UniProtKB/Swiss-Prot
    Q3TM39, Q3V0C5, Q571J9, Q8VDJ1
    Related
    ENSMUSP00000055016.7, ENSMUST00000055131.13
    Conserved Domains (4) summary
    cd01795
    Location:946 → 1052
    USP48_C; USP ubiquitin-specific protease
    cd02668
    Location:90 → 418
    Peptidase_C19L; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
    pfam00443
    Location:89 → 417
    UCH; Ubiquitin carboxyl-terminal hydrolase
    pfam06337
    Location:483 → 553
    DUSP; DUSP domain

RNA

  1. NR_175977.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

  2. NR_175978.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL805954, BX000694

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_000070.7 Reference GRCm39 C57BL/6J

    Range
    137321079..137385842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017320011.3 → XP_017175500.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X6

    Conserved Domains (3) summary
    cd02668
    Location:90 → 419
    Peptidase_C19L; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
    cd01795
    Location:923 → 1018
    Ubl_USP48; ubiquitin-like (Ubl) domain found in ubiquitin-specific-processing protease 48 (USP48) and similar proteins
    pfam06337
    Location:484 → 554
    DUSP; DUSP domain

  2. XM_036163772.1 → XP_036019665.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X7

    Conserved Domains (3) summary
    cd02668
    Location:90 → 419
    Peptidase_C19L; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
    cd01795
    Location:805 → 900
    Ubl_USP48; ubiquitin-like (Ubl) domain found in ubiquitin-specific-processing protease 48 (USP48) and similar proteins
    pfam06337
    Location:484 → 554
    DUSP; DUSP domain

  3. XM_017320007.3 → XP_017175496.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X3

    Conserved Domains (3) summary
    cd02668
    Location:90 → 418
    Peptidase_C19L; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
    cd01795
    Location:957 → 1052
    Ubl_USP48; ubiquitin-like (Ubl) domain found in ubiquitin-specific-processing protease 48 (USP48) and similar proteins
    pfam06337
    Location:483 → 553
    DUSP; DUSP domain

  4. XM_036163773.1 → XP_036019666.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X8

    Conserved Domains (2) summary
    cd01795
    Location:526 → 621
    Ubl_USP48; ubiquitin-like (Ubl) domain found in ubiquitin-specific-processing protease 48 (USP48) and similar proteins
    pfam06337
    Location:70 → 140
    DUSP; DUSP domain

  5. XM_036163775.1 → XP_036019668.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X10

    Conserved Domains (1) summary
    cd01795
    Location:431 → 526
    Ubl_USP48; ubiquitin-like (Ubl) domain found in ubiquitin-specific-processing protease 48 (USP48) and similar proteins

  6. XM_017320012.2 → XP_017175501.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X10

    Conserved Domains (1) summary
    cd01795
    Location:431 → 526
    Ubl_USP48; ubiquitin-like (Ubl) domain found in ubiquitin-specific-processing protease 48 (USP48) and similar proteins

  7. XM_036163774.1 → XP_036019667.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X9

    Conserved Domains (1) summary
    cd01795
    Location:432 → 527
    Ubl_USP48; ubiquitin-like (Ubl) domain found in ubiquitin-specific-processing protease 48 (USP48) and similar proteins

  8. XM_006538607.4 → XP_006538670.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X9

    See identical proteins and their annotated locations for XP_006538670.1

    Conserved Domains (1) summary
    cd01795
    Location:432 → 527
    Ubl_USP48; ubiquitin-like (Ubl) domain found in ubiquitin-specific-processing protease 48 (USP48) and similar proteins

  9. XM_036163776.1 → XP_036019669.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X10

    Conserved Domains (1) summary
    cd01795
    Location:431 → 526
    Ubl_USP48; ubiquitin-like (Ubl) domain found in ubiquitin-specific-processing protease 48 (USP48) and similar proteins

  10. XM_006538606.4 → XP_006538669.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X9

    See identical proteins and their annotated locations for XP_006538669.1

    Conserved Domains (1) summary
    cd01795
    Location:432 → 527
    Ubl_USP48; ubiquitin-like (Ubl) domain found in ubiquitin-specific-processing protease 48 (USP48) and similar proteins

  11. XM_036163777.1 → XP_036019670.1  ubiquitin carboxyl-terminal hydrolase 48 isoform X10

    Conserved Domains (1) summary
    cd01795
    Location:431 → 526
    Ubl_USP48; ubiquitin-like (Ubl) domain found in ubiquitin-specific-processing protease 48 (USP48) and similar proteins

RNA

  1. XR_003954887.2 RNA Sequence

  2. XR_004941826.1 RNA Sequence

  3. XR_004941825.1 RNA Sequence

  4. XR_003954888.2 RNA Sequence

  5. XR_004941823.1 RNA Sequence

  6. XR_003954886.2 RNA Sequence

  7. XR_004941824.1 RNA Sequence

  8. XR_001784099.3 RNA Sequence

  9. XR_001784098.3 RNA Sequence

  10. XR_004941820.1 RNA Sequence

  11. XR_004941821.1 RNA Sequence

  12. XR_004941819.1 RNA Sequence

  13. XR_004941822.1 RNA Sequence

  14. XR_004941828.1 RNA Sequence

  15. XR_004941827.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3V0C5.2 GenPept UniProtKB/Swiss-Prot:Q3V0C5

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