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

Gene ID: 230484, updated on 27-Feb-2024

Summary

Official Symbol
Usp1provided by MGI
Official Full Name
ubiquitin specific peptidase 1provided by MGI
Primary source
MGI:MGI:2385198
See related
Ensembl:ENSMUSG00000028560 AllianceGenome:MGI:2385198
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 C6; 4 45.6 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 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)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA I0C0044D17 gene Neighboring gene STARR-seq mESC enhancer starr_10858 Neighboring gene STARR-seq mESC enhancer starr_10859 Neighboring gene predicted gene 12851 Neighboring gene STARR-positive B cell enhancer ABC_E151 Neighboring gene STARR-seq mESC enhancer starr_10862 Neighboring gene dedicator of cytokinesis 7 Neighboring gene STARR-seq mESC enhancer starr_10863 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)
  • Gene trapped (1) 
  • Targeted (5)  1 citation
  • Endonuclease-mediated (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC25559

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 ISO
Inferred from Sequence Orthology
more info
 
enables cysteine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
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
 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in monoubiquitinated protein deubiquitination ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of receptor signaling pathway via JAK-STAT ISO
Inferred from Sequence Orthology
more info
 
involved_in protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
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 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)

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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_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, Q8VE17, Q8VEM4
    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, Q8VE17, Q8VEM4
    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: 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
    98812047..98823780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)