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    Usp1 ubiquitin specific peptidase 1 [ Mus musculus (house mouse) ]

    Gene ID: 230484, updated on 12-Sep-2021

    Summary

    Official Symbol
    Usp1provided by MGI
    Official Full Name
    ubiquitin specific peptidase 1provided by MGI
    Primary source
    MGI:MGI:2385198
    See related
    Ensembl:ENSMUSG00000028560
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    This gene encodes a member of the ubiquitin-specific peptidase family. The encoded protein acts as a catalytic subunit in a heterodimeric deubiquitinating enzyme complex that deubiquitinates Fanconi anemia, complementation group D2, and plays a role in homologous recombination-mediated DNA repair. Disruption of this gene is associated with a Fanconi anemia-like phenotype and genomic instability. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 3, 12, and 15. [provided by RefSeq, Aug 2014]
    Expression
    Ubiquitous expression in testis adult (RPKM 27.3), CNS E11.5 (RPKM 23.4) and 27 other tissues See more
    Orthologs
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    Genomic context

    See Usp1 in Genome Data Viewer
    Location:
    4; 4 C6
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (98812047..98823780)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (98923810..98935543)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (98590501..98602224)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA I0C0044D17 gene Neighboring gene predicted gene 12851 Neighboring gene dedicator of cytokinesis 7 Neighboring gene angiopoietin-like 3 Neighboring gene ribosomal protein S4, X-linked pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC25559

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cysteine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables thiol-dependent deubiquitinase IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables thiol-dependent deubiquitinase ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoubiquitinated protein deubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein deubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein deubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to UV ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 1
    Names
    deubiquitinating enzyme 1
    ubiquitin specific protease 1
    ubiquitin thioesterase 1
    ubiquitin thiolesterase 1
    ubiquitin-specific-processing protease 1
    NP_001288343.1
    NP_001343353.1
    NP_666256.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001301414.1NP_001288343.1  ubiquitin carboxyl-terminal hydrolase 1 isoform 1

      See identical proteins and their annotated locations for NP_001288343.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK080882, BG083613, BY713495
      Consensus CDS
      CCDS18381.1
      UniProtKB/Swiss-Prot
      Q8BJQ2
      Related
      ENSMUSP00000088917.5, ENSMUST00000091358.11
      Conserved Domains (2) summary
      cd02671
      Location:423598
      Peptidase_C19O; 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 ...
      cl02553
      Location:82253
      Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...
    2. NM_001356424.1NP_001343353.1  ubiquitin carboxyl-terminal hydrolase 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AK080882, BG083613
      Conserved Domains (2) summary
      cd02671
      Location:369544
      Peptidase_C19O; 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 ...
      cl02553
      Location:27172
      Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...
    3. NM_146144.4NP_666256.2  ubiquitin carboxyl-terminal hydrolase 1 isoform 1

      See identical proteins and their annotated locations for NP_666256.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK080882, BG083613
      Consensus CDS
      CCDS18381.1
      UniProtKB/Swiss-Prot
      Q8BJQ2
      Related
      ENSMUSP00000030289.3, ENSMUST00000030289.9
      Conserved Domains (2) summary
      cd02671
      Location:423598
      Peptidase_C19O; 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 ...
      cl02553
      Location:82253
      Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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
      98812047..98823780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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