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Aliases for USP1 Gene

Aliases for USP1 Gene

  • Ubiquitin Specific Peptidase 1 2 3 5
  • Ubiquitin Specific Protease 1 2 3
  • Deubiquitinating Enzyme 1 3 4
  • Ubiquitin Thioesterase 1 3 4
  • HUBP 3 4
  • Ubiquitin Specific Processing Protease 1 3
  • Ubiquitin-Specific-Processing Protease 1 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 1 3
  • Ubiquitin Thiolesterase 1 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 56
  • UBP 3

External Ids for USP1 Gene

Previous GeneCards Identifiers for USP1 Gene

  • GC01P062837
  • GC01P061825
  • GC01P062259
  • GC01P062272
  • GC01P062614
  • GC01P062674
  • GC01P061014

Summaries for USP1 Gene

Entrez Gene Summary for USP1 Gene

  • 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]

GeneCards Summary for USP1 Gene

USP1 (Ubiquitin Specific Peptidase 1) is a Protein Coding gene. Diseases associated with USP1 include Fanconi Anemia, Complementation Group A. Among its related pathways are Fanconi anemia pathway and DNA Damage. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitinyl hydrolase activity.

UniProtKB/Swiss-Prot for USP1 Gene

  • Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2 (PubMed:15694335). Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA (PubMed:16531995). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity (PubMed:18082604, PubMed:26388029).

Gene Wiki entry for USP1 Gene

Additional gene information for USP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USP1 Gene

Genomics for USP1 Gene

GeneHancer (GH) Regulatory Elements for USP1 Gene

Promoters and enhancers for USP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I062435 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.5 1476 5 CLOCK MLX IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC USP1 DOCK7 ATG4C ENSG00000270549
GH01I062356 Enhancer 1.3 FANTOM5 Ensembl ENCODE 81.1 -79.6 -79597 0.6 ZNF493 ZFP64 INSM2 KLF17 ZEB1 ZNF155 ZNF213 ZNF366 ZNF143 FOS USP1 ENSG00000271200 TM2D1 DOCK7 KANK4 LOC105378768
GH01I061723 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.9 -711.2 -711185 2.4 PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 SLC30A9 TM2D1 ENSG00000270742 USP1 GC01M061668
GH01I062686 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 14 +253.1 253100 5.4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A ZNF2 YY1 DOCK7 ENSG00000235545 ITGB3BP USP1 ATG4C
GH01I063316 Promoter/Enhancer 1.4 Ensembl ENCODE 12.7 +881.3 881268 2.8 HDGF ATF1 ARNT SIN3A ZNF2 ETS1 GLIS2 ZNF213 ZNF143 KLF7 LINC00466 ITGB3BP USP1 FOXD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around USP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the USP1 gene promoter:

Genomic Locations for USP1 Gene

Genomic Locations for USP1 Gene
chr1:62,436,297-62,451,804
(GRCh38/hg38)
Size:
15,508 bases
Orientation:
Plus strand
chr1:62,901,968-62,917,475
(GRCh37/hg19)

Genomic View for USP1 Gene

Genes around USP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP1 Gene

Proteins for USP1 Gene

  • Protein details for USP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94782-UBP1_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 1
    Protein Accession:
    O94782
    Secondary Accessions:
    • A0PJ95
    • D3DQ57
    • Q05BX7
    • Q59H66
    • Q9UFR0
    • Q9UNJ3

    Protein attributes for USP1 Gene

    Size:
    785 amino acids
    Molecular mass:
    88207 Da
    Quaternary structure:
    • Interacts with FANCD2 and PCNA (PubMed:15694335, PubMed:16531995). Interacts with WDR48 (PubMed:18082604, PubMed:26388029).
    Miscellaneous:
    • HEK293T cells expressing reduced levels of USP1 show a higher level of ubiquitinated PCNA and an increase in point mutations upon UV irradiation.
    SequenceCaution:
    • Sequence=AAH18745.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH32364.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAD92130.1; Type=Frameshift; Positions=230; Evidence={ECO:0000305};

neXtProt entry for USP1 Gene

Selected DME Specific Peptides for USP1 Gene

O94782:
  • KQPSILSKFCS
  • EENQRQTRSKRKA

Post-translational modifications for USP1 Gene

  • Autocatalytic cleavage of USP1 following UV irradiation inactivates it leading to an increase in ubiquitinated PCNA, recruitment of POLH and translesion synthesis.
  • Ubiquitinated; leading to its subsequent proteasomal degradation.
  • Ubiquitination at posLast=7373, posLast=110110, posLast=689689, posLast=746746, and posLast=761761

Other Protein References for USP1 Gene

Domains & Families for USP1 Gene

Gene Families for USP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for USP1 Gene

Suggested Antigen Peptide Sequences for USP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94782

UniProtKB/Swiss-Prot:

UBP1_HUMAN :
  • Belongs to the peptidase C19 family.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP1: view

Function for USP1 Gene

Molecular function for USP1 Gene

GENATLAS Biochemistry:
ubiquitin-specific protease 1,88.2kDa,ubiquitin specific processing family member,involved in cleavage beta galactosidase,deubiquitin enzyme family
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.7 uM for ubiquitin vinyl sulfone (in presence of WDR48) {ECO:0000269 PubMed:18082604}; KM=1.4 uM for ubiquitin vinyl sulfone (in absence of WDR48) {ECO:0000269 PubMed:18082604};
UniProtKB/Swiss-Prot CatalyticActivity:
Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
UniProtKB/Swiss-Prot Function:
Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2 (PubMed:15694335). Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA (PubMed:16531995). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity (PubMed:18082604, PubMed:26388029).
UniProtKB/Swiss-Prot Induction:
Down-regulated following DNA damage.

Enzyme Numbers (IUBMB) for USP1 Gene

Phenotypes From GWAS Catalog for USP1 Gene

Gene Ontology (GO) - Molecular Function for USP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IEA,TAS --
GO:0004843 thiol-dependent ubiquitin-specific protease activity IMP,TAS 20129063
GO:0005515 protein binding IPI 18082604
GO:0008233 peptidase activity EXP 16531995
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with USP1: view
genes like me logo Genes that share phenotypes with USP1: view

Animal Models for USP1 Gene

MGI Knock Outs for USP1:

miRNA for USP1 Gene

miRTarBase miRNAs that target USP1

Clone Products

  • Addgene plasmids for USP1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for USP1 Gene

Localization for USP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USP1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for USP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 18082604
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with USP1: view

Pathways & Interactions for USP1 Gene

genes like me logo Genes that share pathways with USP1: view

Pathways by source for USP1 Gene

1 Cell Signaling Technology pathway for USP1 Gene
1 BioSystems pathway for USP1 Gene
1 KEGG pathway for USP1 Gene
1 GeneGo (Thomson Reuters) pathway for USP1 Gene
1 Qiagen pathway for USP1 Gene

Gene Ontology (GO) - Biological Process for USP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0006281 DNA repair IEA --
GO:0006282 regulation of DNA repair IDA 18082604
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
genes like me logo Genes that share ontologies with USP1: view

No data available for SIGNOR curated interactions for USP1 Gene

Drugs & Compounds for USP1 Gene

(6) Drugs for USP1 Gene - From: ApexBio, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
C527 Pharma Inhibitor of USP1/USF1 complex 0
ML-323 Pharma USP1-UAF1 inhibitor 0
SJB2-043 Pharma USP1 inhibitor 0
SJB3-019A Pharma Usp1 inhibitor 0

(4) ApexBio Compounds for USP1 Gene

Compound Action Cas Number
C527 Inhibitor of USP1/USF1 complex 192718-06-2
ML-323 USP1-UAF1 inhibitor 1572414-83-5
SJB2-043 USP1 inhibitor 63388-44-3
SJB3-019A Usp1 inhibitor
genes like me logo Genes that share compounds with USP1: view

Drug Products

Transcripts for USP1 Gene

Unigene Clusters for USP1 Gene

Ubiquitin specific peptidase 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for USP1

Alternative Splicing Database (ASD) splice patterns (SP) for USP1 Gene

No ASD Table

Relevant External Links for USP1 Gene

GeneLoc Exon Structure for
USP1
ECgene alternative splicing isoforms for
USP1

Expression for USP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for USP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for USP1 Gene

This gene is overexpressed in Serum (40.3) and Liver (24.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for USP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of USP1 Gene:

USP1

SOURCE GeneReport for Unigene cluster for USP1 Gene:

Hs.35086

Evidence on tissue expression from TISSUES for USP1 Gene

  • Nervous system(4.9)
  • Eye(4.7)
  • Intestine(4.6)
  • Thyroid gland(4.5)
  • Lung(4.2)
  • Pancreas(4.2)
  • Kidney(3.8)
  • Skin(3.7)
  • Liver(3.6)
  • Stomach(2.9)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with USP1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP1 Gene

Orthologs for USP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for USP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia USP1 33 34
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia USP1 33 34
  • 94.44 (n)
cow
(Bos Taurus)
Mammalia USP1 33 34
  • 93.4 (n)
rat
(Rattus norvegicus)
Mammalia Usp1 33
  • 87.07 (n)
mouse
(Mus musculus)
Mammalia Usp1 33 16 34
  • 86.93 (n)
oppossum
(Monodelphis domestica)
Mammalia USP1 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia USP1 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves USP1 33 34
  • 72.74 (n)
lizard
(Anolis carolinensis)
Reptilia USP1 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia usp1 33
  • 63.2 (n)
Str.2887 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398530 33
zebrafish
(Danio rerio)
Actinopterygii usp1 33 34
  • 58.57 (n)
wufb43a02 33
fruit fly
(Drosophila melanogaster)
Insecta CG15817 34
  • 15 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP13 34
  • 13 (a)
ManyToMany
UBP9 34
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 13 (a)
OneToOne
Species where no ortholog for USP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for USP1 Gene

ENSEMBL:
Gene Tree for USP1 (if available)
TreeFam:
Gene Tree for USP1 (if available)

Paralogs for USP1 Gene

No data available for Paralogs for USP1 Gene

Variants for USP1 Gene

Sequence variations from dbSNP and Humsavar for USP1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000100118 -- 62,445,026(+) A/G coding_sequence_variant, synonymous_variant
rs1000438194 -- 62,451,802(+) G/A 3_prime_UTR_variant
rs1000535672 -- 62,434,889(+) G/A upstream_transcript_variant
rs1000782596 -- 62,439,441(+) C/T intron_variant
rs1001065479 -- 62,443,299(+) G/T coding_sequence_variant, missense_variant

Variation tolerance for USP1 Gene

Residual Variation Intolerance Score: 20.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USP1 Gene

Human Gene Mutation Database (HGMD)
USP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for USP1 Gene

Disorders for USP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for USP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards
Search USP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for USP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with USP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for USP1 Gene

Publications for USP1 Gene

  1. A UAF1-containing multisubunit protein complex regulates the Fanconi anemia pathway. (PMID: 18082604) Cohn MA … D'Andrea AD (Molecular cell 2007) 3 4 22 58
  2. Identification and chromosomal assignment of USP1, a novel gene encoding a human ubiquitin-specific protease. (PMID: 9806842) Fujiwara T … Tanaka K (Genomics 1998) 3 4 22 58
  3. Structural Insights into WD-Repeat 48 Activation of Ubiquitin-Specific Protease 46. (PMID: 26388029) Yin J … Harris SF (Structure (London, England : 1993) 2015) 3 4 58
  4. CRL4(Cdt2) E3 ubiquitin ligase monoubiquitinates PCNA to promote translesion DNA synthesis. (PMID: 20129063) Terai K … Dutta A (Molecular cell 2010) 3 22 58
  5. Human ELG1 regulates the level of ubiquitinated proliferating cell nuclear antigen (PCNA) through Its interactions with PCNA and USP1. (PMID: 20147293) Lee KY … Myung K (The Journal of biological chemistry 2010) 3 22 58

Products for USP1 Gene

  • Addgene plasmids for USP1

Sources for USP1 Gene

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