USP1

Ubiquitin carboxyl-terminal hydrolase 1 is an enzyme that in humans is encoded by the USP1 gene.^[5][6]

USP1
Identifiers
Aliases	USP1, UBP, ubiquitin specific peptidase 1
External IDs	OMIM: 603478; MGI: 2385198; HomoloGene: 2528; GeneCards: USP1; OMA:USP1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p31.3 Start 62,436,297 bp[1] End 62,451,804 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 C6 Start 98,812,047 bp[2] End 98,823,780 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte ventricular zone sperm trabecular bone ganglionic eminence gonad endothelial cell germinal epithelium cartilage tissue tibia Top expressed in seminiferous tubule gastrula primitive streak spermatid spermatocyte vas deferens mandibular prominence abdominal wall ureter maxillary prominence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cysteine-type peptidase activity protein binding hydrolase activity thiol-dependent deubiquitinase cysteine-type endopeptidase activity peptidase activity Cellular component nucleus nucleoplasm Biological process skeletal system development monoubiquitinated protein deubiquitination response to UV ubiquitin-dependent protein catabolic process proteolysis cellular response to DNA damage stimulus protein deubiquitination DNA repair regulation of DNA repair interstrand cross-link repair Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7398 230484 Ensembl ENSG00000162607 ENSMUSG00000028560 UniProt O94782 Q8BJQ2 RefSeq (mRNA) NM_003368 NM_001017415 NM_001017416 NM_001301414 NM_146144 NM_001356424 RefSeq (protein) NP_001017415 NP_001017416 NP_003359 NP_001288343 NP_666256 NP_001343353 Location (UCSC) Chr 1: 62.44 – 62.45 Mb Chr 4: 98.81 – 98.82 Mb PubMed search [3] [4]
Wikidata
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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.^[6]

Research

UCH-L1 has been studied, in a 2020 paper by Sharma, et al for its association with neurodegenerative diseases (Parkinson's disease)^[7]

A 2024 paper by Li, et al indicates possible contribution to cancer progression. Apparently via stabilizing proteins that promote cell proliferation (in TNBC, UCHL1 deubiquitinates and stabilizes KLF5, as a consequence there is resistance to endocrine therapy).^[8]