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

Gene ID: 7398, updated on 16-Apr-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
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Genomic context

Location:
1p31.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (62436395..62451804)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (62314982..62330391)
105.20220307 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
  • 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 
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
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 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

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_2023_10

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)