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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) Band 1p31.3 Start 62,436,297 bp End 62,451,804 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 C6 Start 98,812,047 bp End 98,823,780 bp
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
Wikidata
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Ubiquitin carboxyl-terminal hydrolase 1 is an enzyme that in humans is encoded by the 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.

Research

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

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).

References

1. ^ GRCh38: Ensembl release 89: ENSG00000162607 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000028560 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Puente XS, Sánchez LM, Overall CM, López-Otín C (July 2003). "Human and mouse proteases: a comparative genomic approach". Nature Reviews. Genetics. 4 (7): 544–558. doi:10.1038/nrg1111. PMID 12838346. S2CID 2856065.
6. ^ "Entrez Gene: USP1 ubiquitin specific peptidase 1".
7. Sharma, Amit; Liu, Hongde; Tobar-Tosse, Fabian; Chand Dakal, Tikam; Ludwig, Michael; Holz, Frank G.; Loeffler, Karin U.; Wüllner, Ullrich; Herwig-Carl, Martina C. (30 May 2020). "Ubiquitin Carboxyl-Terminal Hydrolases (UCHs): Potential Mediators for Cancer and Neurodegeneration". International Journal of Molecular Sciences. 21 (11): 3910. doi:10.3390/ijms21113910. ISSN 1422-0067. PMC 7312489. PMID 32486284.
8. Li, Juan; Liang, Yu; Zhou, Shijie; Chen, Jie; Wu, Chihua (11 March 2024). "UCHL1 contributes to insensitivity to endocrine therapy in triple-negative breast cancer by deubiquitinating and stabilizing KLF5". Breast Cancer Research. 26 (1): 44. doi:10.1186/s13058-024-01800-1. ISSN 1465-542X. PMC 10929172. PMID 38468288.

Further reading

• D'Andrea A, Pellman D (1999). "Deubiquitinating enzymes: a new class of biological regulators". Critical Reviews in Biochemistry and Molecular Biology. 33 (5): 337–352. doi:10.1080/10409239891204251. PMID 9827704.
• Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Fujiwara T, Saito A, Suzuki M, Shinomiya H, Suzuki T, Takahashi E, et al. (November 1998). "Identification and chromosomal assignment of USP1, a novel gene encoding a human ubiquitin-specific protease". Genomics. 54 (1): 155–158. doi:10.1006/geno.1998.5554. PMID 9806842.
• Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–292. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–2144. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
• Nijman SM, Huang TT, Dirac AM, Brummelkamp TR, Kerkhoven RM, D'Andrea AD, Bernards R (February 2005). "The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway". Molecular Cell. 17 (3): 331–339. doi:10.1016/j.molcel.2005.01.008. hdl:1874/17796. PMID 15694335. S2CID 19117200.
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, et al. (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415 – D418. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

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