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

Gene ID: 7398, updated on 13-Mar-2020

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
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

Genomic context

See USP1 in Genome Data Viewer
Location:
1p31.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (62436304..62451804)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (62901975..62917475)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene KN motif and ankyrin repeat domains 4 Neighboring gene RNA, U6 small nuclear 371, pseudogene Neighboring gene uncharacterized LOC105378768 Neighboring gene dedicator of cytokinesis 7 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
  • 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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidase activity EXP
Inferred from Experiment
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA damage response, detection of DNA damage TAS
Traceable Author Statement
more info
 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
monoubiquitinated protein deubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
response to UV IDA
Inferred from Direct Assay
more info
PubMed 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ubiquitin carboxyl-terminal hydrolase 1
Names
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)

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_001017415.1NP_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
    O94782
    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_001017416.1NP_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
    O94782
    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
    O94782
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    62436304..62451804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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