Free for academic non-profit institutions. Other users need a Commercial license

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 61
  • 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 Congenital Hypoplastic Anemia and Fanconi Anemia, Complementation Group A. Among its related pathways are Fanconi anemia pathway and DNA damage_ATM/ATR regulation of G1/S checkpoint. GO annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitinyl hydrolase activity. An important paralog of this gene is USP38.

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

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

Genomics for USP1 Gene

Regulatory Elements for USP1 Gene

Enhancers for USP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F062356 1.5 FANTOM5 Ensembl ENCODE 62 -79.6 -79597 0.6 ZFP64 ZNF493 INSM2 KLF17 ZEB1 ZNF155 ZNF366 ZNF143 FOS ZNF680 USP1 KANK4 ENSG00000271200 TM2D1 LOC105378768
GH01F062232 1 FANTOM5 Ensembl ENCODE 17 -203.2 -203239 0.4 POLR2A ZFP64 USP1 KANK4 L1TD1 GC01M062237 GC01P062219
GH01F063316 1 ENCODE 12.7 +881.3 881268 2.8 PKNOX1 ZNF2 YY1 GLIS2 KLF7 ZNF263 SP3 REST SMARCB1 ZNF610 USP1 LINC00466 FOXD3
GH01F062295 0.9 Ensembl ENCODE 11 -140.2 -140172 1.3 PKNOX1 ZNF316 ZFHX2 ZNF366 ZNF416 PRDM10 ZBTB33 EMSY PRDM1 EGR2 USP1 TM2D1 L1TD1 GC01M062299 GC01M062237
GH01F061504 0.7 ENCODE 13.5 -931.2 -931234 0.2 JUN INSM2 ZNF664 ZNF366 FOS ZBTB20 MTA2 GFI1B ZEB2 ZNF264 ENSG00000270742 USP1 GC01P061456 LOC105378766
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around USP1 on UCSC Golden Path with GeneCards custom track

Promoters for USP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001520983 1503 5200 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A ZNF2 YY1 SLC30A9

Genomic Location for USP1 Gene

Chromosome:
1
Start:
62,436,297 bp from pter
End:
62,451,804 bp from pter
Size:
15,508 bases
Orientation:
Plus strand

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 Lys 73, Lys 110, Lys 689, Lys 746, and Lys 761
  • Modification sites at PhosphoSitePlus

Other Protein References for USP1 Gene

Domains & Families for USP1 Gene

Gene Families for USP1 Gene

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 :
  • Contains 1 USP domain.
  • Belongs to the peptidase C19 family.
Domain:
  • Contains 1 USP domain.
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

Gene Ontology (GO) - Molecular Function for USP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IEA --
GO:0004843 thiol-dependent ubiquitin-specific protease activity IMP 20129063
GO:0005515 protein binding IPI 18082604
GO:0008233 peptidase activity IEA --
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for USP1

Inhibitory RNA Products

Flow Cytometry Products

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

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 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 IEA,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

Transcripts for USP1 Gene

Unigene Clusters for USP1 Gene

Ubiquitin specific peptidase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 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
genes like me logo Genes that share expression patterns with USP1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia USP1 34 35
  • 94.44 (n)
cow
(Bos Taurus)
Mammalia USP1 34 35
  • 93.4 (n)
rat
(Rattus norvegicus)
Mammalia Usp1 34
  • 87.07 (n)
mouse
(Mus musculus)
Mammalia Usp1 34 16 35
  • 86.93 (n)
oppossum
(Monodelphis domestica)
Mammalia USP1 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia USP1 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves USP1 34 35
  • 72.74 (n)
lizard
(Anolis carolinensis)
Reptilia USP1 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia usp1 34
  • 63.2 (n)
Str.2887 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398530 34
zebrafish
(Danio rerio)
Actinopterygii usp1 34 35
  • 58.57 (n)
wufb43a02 34
fruit fly
(Drosophila melanogaster)
Insecta CG15817 35
  • 15 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP13 35
  • 13 (a)
ManyToMany
UBP9 35
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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

Paralogs for USP1 Gene

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

Variants for USP1 Gene

Sequence variations from dbSNP and Humsavar for USP1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10158897 -- 62,447,248(+) TTATT(C/T)ATGAT intron-variant
rs10493322 -- 62,440,222(-) TCGAT(A/G)TGATT intron-variant
rs10647753 -- 62,445,634(+) GTGTG(-/TA)TGTGT intron-variant
rs111248884 -- 62,443,370(+) TTATA(C/T)CCTTG intron-variant
rs112050628 -- 62,437,484(+) GAGAC(C/T)CCGGG intron-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)

Relevant External Links for USP1 Gene

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

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

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

Relevant External Links for USP1

Genetic Association Database (GAD)
USP1
Human Genome Epidemiology (HuGE) Navigator
USP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP1
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 M.A. … D'Andrea A.D. (Mol. Cell 2007) 3 4 22 64
  2. Identification and chromosomal assignment of USP1, a novel gene encoding a human ubiquitin-specific protease. (PMID: 9806842) Fjiwara T. … Tanaka K. (Genomics 1998) 3 4 22 64
  3. Structural Insights into WD-Repeat 48 Activation of Ubiquitin-Specific Protease 46. (PMID: 26388029) Yin J. … Harris S.F. (Structure 2015) 3 4 64
  4. CRL4(Cdt2) E3 ubiquitin ligase monoubiquitinates PCNA to promote translesion DNA synthesis. (PMID: 20129063) Terai K. … Dutta A. (Mol. Cell 2010) 3 22 64
  5. Human ELG1 regulates the level of ubiquitinated proliferating cell nuclear antigen (PCNA) through Its interactions with PCNA and USP1. (PMID: 20147293) Lee K.Y. … Myung K. (J. Biol. Chem. 2010) 3 22 64

Products for USP1 Gene

Sources for USP1 Gene

Content
Loading form....