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

    Gene ID: 170707, updated on 9-Dec-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, Dec 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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