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    USP1 ubiquitin specific peptidase 1 [ Homo sapiens (human) ]

    Gene ID: 7398, updated on 28-Oct-2024

    Summary

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    Official Symbol
    USP1provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:12607
    See related
    Ensembl:ENSG00000162607 MIM:603478; AllianceGenome:HGNC:12607
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UBP
    Summary
    This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 29.9), bone marrow (RPKM 17.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See USP1 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (62436395..62451804)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (62314982..62330391)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (62902066..62917475)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene KN motif and ankyrin repeat domains 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:62774147-62774833 Neighboring gene RNA, U6 small nuclear 371, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62783698-62784422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62784423-62785145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:62802114-62802779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:62816983-62817483 Neighboring gene Sharpr-MPRA regulatory region 10636 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:62866517-62867293 Neighboring gene uncharacterized LOC105378768 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62901187-62901954 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62901955-62902722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:62946511-62947011 Neighboring gene dedicator of cytokinesis 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:62996318-62996526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:63088457-63088957 Neighboring gene angiopoietin like 3 Neighboring gene ribosomal protein L13a pseudogene 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. USP1 targeting impedes GBM growth by inhibiting stem cell maintenance and radioresistance. Lee JK, et al. Neuro Oncol, 2016 Jan. PMID 26032834, Free PMC Article
    2. Ubiquitin-specific protease 1 overexpression indicates poor prognosis and promotes proliferation, migration, and invasion of gastric cancer cells. Meng D, et al. Tissue Cell, 2022 Feb. PMID 34990966
    3. Identification and chromosomal assignment of USP1, a novel gene encoding a human ubiquitin-specific protease. Fujiwara T, et al. Genomics, 1998 Nov 15. PMID 9806842
    4. Gene silencing of USP1 by lentivirus effectively inhibits proliferation and invasion of human osteosarcoma cells. Liu J, et al. Int J Oncol, 2016 Dec. PMID 27840911
    5. Translational regulation of the mRNA encoding the ubiquitin peptidase USP1 involved in the DNA damage response as a determinant of Cisplatin resistance. Sourisseau T, et al. Cell Cycle, 2016. PMID 26825230, Free PMC Article

    See all (131) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tumor suppressor functions of miRNA-375 in nasopharyngeal carcinoma through inhibition of ubiquitin-specific protease 1 expression.
      Title: Tumor suppressor functions of miRNA-375 in nasopharyngeal carcinoma through inhibition of ubiquitin-specific protease 1 expression.
    2. The P53-P21-RB1 pathway promotes BRD4 degradation in liver cancer through USP1.
      Title: The P53-P21-RB1 pathway promotes BRD4 degradation in liver cancer through USP1.
    3. USP1-dependent nucleolytic expansion of PRIMPOL-generated nascent DNA strand discontinuities during replication stress.
      Title: USP1-dependent nucleolytic expansion of PRIMPOL-generated nascent DNA strand discontinuities during replication stress.
    4. 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.
    5. The UAF1-USP1 Deubiquitinase Complex Stabilizes cGAS and Facilitates Antiviral Responses.
      Title: The UAF1-USP1 Deubiquitinase Complex Stabilizes cGAS and Facilitates Antiviral Responses.
    6. USP1 promotes cholangiocarcinoma progression by deubiquitinating PARP1 to prevent its proteasomal degradation.
      Title: USP1 promotes cholangiocarcinoma progression by deubiquitinating PARP1 to prevent its proteasomal degradation.
    7. USP1 promotes the aerobic glycolysis and progression of T-cell acute lymphoblastic leukemia via PLK1/LDHA axis.
      Title: USP1 promotes the aerobic glycolysis and progression of T-cell acute lymphoblastic leukemia via PLK1/LDHA axis.
    8. USP1 modulates hepatocellular carcinoma progression via the Hippo/TAZ axis.
      Title: USP1 modulates hepatocellular carcinoma progression via the Hippo/TAZ axis.
    9. USP1-regulated reciprocal differentiation of Th17 cells and Treg cells by deubiquitinating and stabilizing TAZ.
      Title: USP1-regulated reciprocal differentiation of Th17 cells and Treg cells by deubiquitinating and stabilizing TAZ.
    10. Ubiquitinated PCNA Drives USP1 Synthetic Lethality in Cancer.
      Title: Ubiquitinated PCNA Drives USP1 Synthetic Lethality in Cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (52)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    EBI GWAS Catalog
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cysteine-type deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables cysteine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoubiquitinated protein deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of error-prone translesion synthesis TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of protein stability IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to UV IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in skeletal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 1
    Names
    Ubiquitinyl hydrolase 1, Ubiquitin carboxyl-terminal hydrolase 1, ubiquitin thiolesterase 1
    deubiquitinating enzyme 1
    hUBP
    ubiquitin specific processing protease 1
    ubiquitin specific protease 1
    ubiquitin thioesterase 1
    ubiquitin thiolesterase 1
    NP_001017415.1
    NP_001017416.1
    NP_003359.3

    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_001017415.2 → NP_001017415.1  ubiquitin carboxyl-terminal hydrolase 1

      See identical proteins and their annotated locations for NP_001017415.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate upstream transcriptional start site and contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AL117575, BI463072, BQ018843, BQ186837
      Consensus CDS
      CCDS621.1
      UniProtKB/Swiss-Prot
      A0PJ95, D3DQ57, O94782, Q05BX7, Q59H66, Q9UFR0, Q9UNJ3
      UniProtKB/TrEMBL
      B2R636
      Related
      ENSP00000360188.1, ENST00000371146.5
      Conserved Domains (2) summary
      cd02671
      Location:424 → 599
      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 → 222
      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_001017416.2 → NP_001017416.1  ubiquitin carboxyl-terminal hydrolase 1

      See identical proteins and their annotated locations for NP_001017416.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate upstream transcriptional start site and contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AL117575, AL599240, BQ018843, BQ186837
      Consensus CDS
      CCDS621.1
      UniProtKB/Swiss-Prot
      A0PJ95, D3DQ57, O94782, Q05BX7, Q59H66, Q9UFR0, Q9UNJ3
      UniProtKB/TrEMBL
      B2R636
      Conserved Domains (2) summary
      cd02671
      Location:424 → 599
      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 → 222
      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_003368.5 → NP_003359.3  ubiquitin carboxyl-terminal hydrolase 1

      See identical proteins and their annotated locations for NP_003359.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC018745, BC050525, BQ018843, BQ186837
      Consensus CDS
      CCDS621.1
      UniProtKB/Swiss-Prot
      A0PJ95, D3DQ57, O94782, Q05BX7, Q59H66, Q9UFR0, Q9UNJ3
      UniProtKB/TrEMBL
      B2R636
      Related
      ENSP00000343526.4, ENST00000339950.5
      Conserved Domains (2) summary
      cd02671
      Location:424 → 599
      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 → 222
      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_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      62436395..62451804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      62314982..62330391
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94782.1 GenPept UniProtKB/Swiss-Prot:O94782

    Gene LinkOut

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

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