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

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: human all
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Genomic context

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A genome-wide CRISPR screen identifies USP1 as a novel regulator of the mammalian circadian clock.
Title: A genome-wide CRISPR screen identifies USP1 as a novel regulator of the mammalian circadian clock.
The UAF1-USP1 Deubiquitinase Complex Stabilizes cGAS and Facilitates Antiviral Responses.
Title: The UAF1-USP1 Deubiquitinase Complex Stabilizes cGAS and Facilitates Antiviral Responses.
Deubiquitinase USP1 enhances CCAAT/enhancer-binding protein beta (C/EBPbeta) stability and accelerates adipogenesis and lipid accumulation.
Title: Deubiquitinase USP1 enhances CCAAT/enhancer-binding protein beta (C/EBPβ) stability and accelerates adipogenesis and lipid accumulation.
USP1/UAF1-Stabilized METTL3 Promotes Reactive Astrogliosis and Improves Functional Recovery after Spinal Cord Injury through m[6]A Modification of YAP1 mRNA.
Title: USP1/UAF1-Stabilized METTL3 Promotes Reactive Astrogliosis and Improves Functional Recovery after Spinal Cord Injury through m(6)A Modification of YAP1 mRNA.
The promotive role of USP1 inhibition in coordinating osteogenic differentiation and fracture healing during nonunion.
Title: The promotive role of USP1 inhibition in coordinating osteogenic differentiation and fracture healing during nonunion.
Ubiquitin Specific Protease 1 Expression and Function in T Cell Immunity.
Title: Ubiquitin Specific Protease 1 Expression and Function in T Cell Immunity.
USP1 deubiquitinates Akt to inhibit PI3K-Akt-FoxO signaling in muscle during prolonged starvation.
Title: USP1 deubiquitinates Akt to inhibit PI3K-Akt-FoxO signaling in muscle during prolonged starvation.
our results strongly suggest that Usp1 is involved in the regulation of centrosome duplication, at least in part via ID1, and Usp1 may exert its oncogenic activity, partially through inducing centrosome abnormality.
Title: A novel role for the deubiquitinase USP1 in the control of centrosome duplication.
Data suggest Usp1 down-regulation by autocleavage is critical for Usp1 to exert role in DNA interstrand crosslink repair; Usp1 role is de-ubiquitination of Fancd2 (Fanconi anemia complementation group D2) and Pcna (proliferating cell nuclear antigen).
Title: The role of USP1 autocleavage in DNA interstrand crosslink repair.
Homozygous Uaf1(-/-) embryos died at embryonic day 7.5 (E7.5). These mutant embryos were small and developmentally retarded.
Title: Inactivation of Uaf1 causes defective homologous recombination and early embryonic lethality in mice.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

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

Gene trapped (1)
Targeted (5) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH129697 (e-PCR)
- UniSTS:212993

MARC_16461-16462:1019835819:1 (e-PCR)
- UniSTS:268046

RH142394 (e-PCR)
- UniSTS:231641

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

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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

EC 3.4.19.12

NP_001343353.1

EC 3.4.19.12

NP_666256.2

EC 3.4.19.12

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)

NM_001301414.1 → NP_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:423 → 598

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:82 → 253

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 ...
NM_001356424.1 → NP_001343353.1 ubiquitin carboxyl-terminal hydrolase 1 isoform 2

Status: REVIEWED

Source sequence(s)

AK080882, BG083613

Conserved Domains (2) summary

cd02671
Location:369 → 544

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:27 → 172

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 ...
NM_146144.4 → NP_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:423 → 598

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:82 → 253

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 ...