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

Gene ID: 99526, updated on 18-Apr-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
Predicted to enable thiol-dependent deubiquitinase. Acts upstream of or within several processes, including neuron 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. Orthologous to human USP53 (ubiquitin specific peptidase 53). [provided by Alliance of Genome Resources, Apr 2022]
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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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 RIKEN cDNA 1810037I17 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 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. 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
  2. Mouse spleen derived cDNA clones containing per repeat sequence. Nishimatsu S, et al. Nucleic Acids Res, 1988 Dec 23. PMID 3267239, Free PMC Article
  3. Progressive Hearing Loss in Mice Carrying a Mutation in Usp53. Kazmierczak M, et al. J Neurosci, 2015 Nov 25. PMID 26609154, Free PMC Article
  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 (22) 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)
  • Endonuclease-mediated (2) 
  • Chemically induced (ENU) (1)  1 citation

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cysteine-type deubiquitinase activity IEA
Inferred from Electronic Annotation
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 anchoring junction IEA
Inferred from Electronic Annotation
more info
  
located_in bicellular tight junction ISO
Inferred from Sequence Orthology
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

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