Gene Gene information from NCBI Gene database.
Entrez ID 7398
Gene name Ubiquitin specific peptidase 1
Gene symbol USP1
Synonyms (NCBI Gene)
UBP
Chromosome 1
Chromosome location 1p31.3
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 prec
miRNA miRNA information provided by mirtarbase database.
228
miRTarBase ID miRNA Experiments Reference
MIRT001747 hsa-miR-375 Microarray 20215506
MIRT001747 hsa-miR-375 Reporter assay 15806104
MIRT024602 hsa-miR-215-5p Microarray 19074876
MIRT026803 hsa-miR-192-5p Microarray 19074876
MIRT048468 hsa-miR-100-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0004197 Function Cysteine-type endopeptidase activity IEA
GO:0004197 Function Cysteine-type endopeptidase activity TAS 9827704
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 18082604
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603478 12607 ENSG00000162607
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94782
Protein name Ubiquitin carboxyl-terminal hydrolase 1 (EC 3.4.19.12) (Deubiquitinating enzyme 1) (hUBP) (Ubiquitin thioesterase 1) (Ubiquitin-specific-processing protease 1) [Cleaved into: Ubiquitin carboxyl-terminal hydrolase 1, N-terminal fragment]
Protein 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, PubMed
PDB 6DO5 , 7AY0 , 7AY1 , 7AY2 , 7ZH3 , 7ZH4 , 8A9J , 8A9K , 9EBS , 9FCI , 9FCJ , 9HNW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00443 UCH 81 647 Ubiquitin carboxyl-terminal hydrolase Family
Sequence
Sequence length 785
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fanconi anemia pathway   Recognition of DNA damage by PCNA-containing replication complex
Fanconi Anemia Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Anemia Hemolytic Associate 21389083
★☆☆☆☆
Found in Text Mining only
Azoospermia Associate 25739334
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 34873426
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 32951278, 35045360, 36261513, 36357365, 37041150, 39991677
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 22118673, 25229643, 26825230
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 19857250, 26617834
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 24309322, 26314856
★☆☆☆☆
Found in Text Mining only
Down Syndrome Associate 28627638
★☆☆☆☆
Found in Text Mining only
Drug Related Side Effects and Adverse Reactions Associate 35365626
★☆☆☆☆
Found in Text Mining only
Fanconi Anemia Associate 18082604, 19075014, 20147737, 22118673, 27239033, 28270494, 30890612, 31253762, 33795880
★☆☆☆☆
Found in Text Mining only