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

    Gene ID: 7398, updated on 19-Sep-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    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_001017415.2NP_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:424599
      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:82222
      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_001017416.2NP_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:424599
      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:82222
      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_003368.5NP_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:424599
      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:82222
      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)