Aliases for USP1 Gene
External Ids for USP1 Gene
Previous GeneCards Identifiers 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).