USP1
| USP1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | USP1, UBP, ubiquitin specific peptidase 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 603478; MGI: 2385198; GeneCards: USP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Ubiquitin carboxyl-terminal hydrolase 1 is an enzyme that in humans is encoded by the USP1 gene.[5][6]
Gene
[edit]The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized.[6]
Function
[edit]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.[6]
Research
[edit]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]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000162607 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028560 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ 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.
- 1 2 3 "Entrez Gene: USP1 ubiquitin specific peptidase 1".
- ↑ Sharma A, Liu H, Tobar-Tosse F, Chand Dakal T, Ludwig M, Holz FG, et al. (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. PMC 7312489. PMID 32486284.
- ↑ Li J, Liang Y, Zhou S, Chen J, Wu C (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. PMC 10929172. PMID 38468288.
Further reading
[edit]- 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, et al. (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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