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

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: mouse all
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Genomic context

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_000001.11 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
USP1 modulates hepatocellular carcinoma progression via the Hippo/TAZ axis.
Title: USP1 modulates hepatocellular carcinoma progression via the Hippo/TAZ axis.
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.
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 EBI GWAS CatalogPubMed
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

USP1 (e-PCR)
- UniSTS:503891

RH68890 (e-PCR)
- UniSTS:85597

SHGC-74927 (e-PCR)
- UniSTS:34746

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

EC 3.4.19.12

NP_001017416.1

EC 3.4.19.12

NP_003359.3

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_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 ...
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 ...
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 ...