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    Usp53 ubiquitin specific peptidase 53 [ Mus musculus (house mouse) ]

    Gene ID: 99526, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Usp53provided by MGI
    Official Full Name
    ubiquitin specific peptidase 53provided by MGI
    Primary source
    MGI:MGI:2139607
    See related
    Ensembl:ENSMUSG00000039701 AllianceGenome:MGI:2139607
    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
    Sp6; mbo; Phxr3; mKIAA1350
    Summary
    Acts upstream of or within several processes, including outer hair cell apoptotic process; response to auditory stimulus; and sensory perception of sound. Located in cell-cell junction. Is expressed in olfactory epithelium; submandibular gland primordium; and tooth. Human ortholog(s) of this gene implicated in progressive familial intrahepatic cholestasis. Orthologous to human USP53 (ubiquitin specific peptidase 53). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 3.0), colon adult (RPKM 2.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Usp53 in Genome Data Viewer
    Location:
    3 G1; 3 53.75 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (122725142..122778184, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (122931486..122984900, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4933405D12 gene Neighboring gene fatty acid binding protein 2, intestinal Neighboring gene STARR-seq mESC enhancer starr_08897 Neighboring gene STARR-positive B cell enhancer ABC_E6116 Neighboring gene allregulin Neighboring gene STARR-seq mESC enhancer starr_08899 Neighboring gene myozenin 2 Neighboring gene STARR-seq mESC enhancer starr_08901 Neighboring gene predicted gene, 54182 Neighboring gene synaptopodin 2

    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. Mouse spleen derived cDNA clones containing per repeat sequence. Nishimatsu S, et al. Nucleic Acids Res, 1988 Dec 23. PMID 3267239, Free PMC Article
    2. Progressive Hearing Loss in Mice Carrying a Mutation in Usp53. Kazmierczak M, et al. J Neurosci, 2015 Nov 25. PMID 26609154, Free PMC Article
    3. USP53 Regulates Bone Homeostasis by Controlling Rankl Expression in Osteoblasts and Bone Marrow Adipocytes. Hariri H, et al. J Bone Miner Res, 2023 Apr. PMID 36726200
    4. A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. Schwander M, et al. J Neurosci, 2007 Feb 28. PMID 17329413, Free PMC Article
    5. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. USP53 Regulates Bone Homeostasis by Controlling Rankl Expression in Osteoblasts and Bone Marrow Adipocytes.
      Title: USP53 Regulates Bone Homeostasis by Controlling Rankl Expression in Osteoblasts and Bone Marrow Adipocytes.
    2. A USP53 mutation is the cause of progressive hearing loss in the mambo mouse line.
      Title: Progressive Hearing Loss in Mice Carrying a Mutation in Usp53.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1)  1 citation
    • Endonuclease-mediated (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    NOT enables cysteine-type deubiquitinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT enables deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within epithelial cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within outer hair cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT acts_upstream_of_or_within protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to auditory stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within response to auditory stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in bicellular tight junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in bicellular tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    inactive ubiquitin carboxyl-terminal hydrolase 53
    Names
    inactive ubiquitin-specific peptidase 53
    per-hexamer repeat gene 3
    per-hexamer repeat protein 3
    protein mambo
    ubiquitin specific protease 53

    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_001411523.1 → NP_001398452.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC121540, AC155158

    2. NM_001411527.1 → NP_001398456.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC121540, AC155158
      UniProtKB/Swiss-Prot
      A2RT25, P15975, Q8BR11, Q8CB37, Q8R251

    3. NM_001411528.1 → NP_001398457.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC121540, AC155158
      UniProtKB/Swiss-Prot
      A2RT25, P15975, Q8BR11, Q8CB37, Q8R251

    4. NM_001411529.1 → NP_001398458.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC121540, AC155158
      UniProtKB/Swiss-Prot
      A2RT25, P15975, Q8BR11, Q8CB37, Q8R251

    5. NM_001411530.1 → NP_001398459.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC121540, AC155158

    6. NM_001411531.1 → NP_001398460.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC121540, AC155158

    7. NM_001411532.1 → NP_001398461.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC121540, AC155158

    8. NM_133857.4 → NP_598618.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 2

      See identical proteins and their annotated locations for NP_598618.1

      Status: VALIDATED

      Source sequence(s)
      AC121540, AC155158
      Consensus CDS
      CCDS17815.1
      UniProtKB/Swiss-Prot
      A2RT25, P15975, Q8BR11, Q8CB37, Q8R251
      Related
      ENSMUSP00000087857.3, ENSMUST00000090379.7
      Conserved Domains (1) summary
      pfam00443
      Location:30 → 348
      UCH; Ubiquitin carboxyl-terminal hydrolase

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      122725142..122778184 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240316.2 → XP_011238618.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      See identical proteins and their annotated locations for XP_011238618.1

      Conserved Domains (1) summary
      pfam00443
      Location:30 → 375
      UCH; Ubiquitin carboxyl-terminal hydrolase

    2. XM_011240315.2 → XP_011238617.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      See identical proteins and their annotated locations for XP_011238617.1

      Conserved Domains (1) summary
      pfam00443
      Location:30 → 375
      UCH; Ubiquitin carboxyl-terminal hydrolase

    3. XM_030252940.2 → XP_030108800.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      Conserved Domains (1) summary
      pfam00443
      Location:30 → 375
      UCH; Ubiquitin carboxyl-terminal hydrolase

    4. XM_017319820.3 → XP_017175309.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X2

      UniProtKB/Swiss-Prot
      A2RT25, P15975, Q8BR11, Q8CB37, Q8R251
      Conserved Domains (1) summary
      pfam00443
      Location:30 → 348
      UCH; Ubiquitin carboxyl-terminal hydrolase

    5. XM_011240314.4 → XP_011238616.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      See identical proteins and their annotated locations for XP_011238616.1

      Conserved Domains (1) summary
      pfam00443
      Location:30 → 375
      UCH; Ubiquitin carboxyl-terminal hydrolase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15975.2 GenPept UniProtKB/Swiss-Prot:P15975

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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