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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}} {{Infobox_gene}}
'''Ubiquitin carboxyl-terminal hydrolase 1''' is an ] that in humans is encoded by the ''USP1'' ].<ref name="pmid12838346">{{cite journal | vauthors = Puente XS, Sanchez LM, Overall CM, Lopez-Otin C | title = Human and mouse proteases: a comparative genomic approach | journal = Nat Rev Genet | volume = 4 | issue = 7 | pages = 544–58 |date=Jul 2003 | pmid = 12838346 | doi = 10.1038/nrg1111 | s2cid = 2856065 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: USP1 ubiquitin specific peptidase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7398}}</ref> '''Ubiquitin carboxyl-terminal hydrolase 1''' is an ] that in humans is encoded by the ''USP1'' ].<ref name="pmid12838346">{{cite journal | vauthors = Puente XS, Sánchez LM, Overall CM, López-Otín C | title = Human and mouse proteases: a comparative genomic approach | journal = Nature Reviews. Genetics | volume = 4 | issue = 7 | pages = 544–558 | date = July 2003 | pmid = 12838346 | doi = 10.1038/nrg1111 | s2cid = 2856065 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: USP1 ubiquitin specific peptidase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7398}}</ref>


This gene encodes a member of the ]-specific processing (UBP) family of proteases that is a ] (DUB) with His and Cys domains. This protein is located in the ] and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. This gene encodes a member of the ]-specific processing (UBP) family of proteases that is a ] (DUB) with His and Cys domains. This protein is located in the ] and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins.


The protein specifically deubiquitinates a protein in the ] (FA) DNA repair pathway. Alternate transcriptional ] have been characterized.<ref name="entrez" /> The protein specifically deubiquitinates a protein in the ] (FA) DNA repair pathway. Alternate transcriptional ] have been characterized.<ref name="entrez" />
==Research==
UCH-L1 has been studied, in a 2020 paper by Sharma, et al for its association with ] (])<ref>{{cite journal |last1=Sharma |first1=Amit |last2=Liu |first2=Hongde |last3=Tobar-Tosse |first3=Fabian |last4=Chand Dakal |first4=Tikam |last5=Ludwig |first5=Michael |last6=Holz |first6=Frank G. |last7=Loeffler |first7=Karin U. |last8=Wüllner |first8=Ullrich |last9=Herwig-Carl |first9=Martina C. |title=Ubiquitin Carboxyl-Terminal Hydrolases (UCHs): Potential Mediators for Cancer and Neurodegeneration |journal=International Journal of Molecular Sciences |date=30 May 2020 |volume=21 |issue=11 |pages=3910 |doi=10.3390/ijms21113910 |doi-access=free |pmid=32486284 |pmc=7312489 |issn=1422-0067}}</ref>


A 2024 paper by Li, et al indicates possible contribution to ] progression. Apparently via stabilizing proteins that promote cell proliferation (in TNBC, UCHL1 deubiquitinates and stabilizes KLF5, as a consequence there is resistance to ]).<ref>{{cite journal |last1=Li |first1=Juan |last2=Liang |first2=Yu |last3=Zhou |first3=Shijie |last4=Chen |first4=Jie |last5=Wu |first5=Chihua |title=UCHL1 contributes to insensitivity to endocrine therapy in triple-negative breast cancer by deubiquitinating and stabilizing KLF5 |journal=Breast Cancer Research |date=11 March 2024 |volume=26 |issue=1 |pages=44 |doi=10.1186/s13058-024-01800-1 |doi-access=free |pmid=38468288 |issn=1465-542X}}</ref>
== Therapy ==
USP1 expression is deregulated in certain types of human cancer. Recent findings indicated that USP1 inhibition may contribute to revert cisplatin resistance in an ''in vitro'' model of non-small cell lung cancer (NSCLC), which supports that USP1 can act as an effective target in cancer therapy. <ref>{{Cite journal |last=García-Santisteban |first=Iraia |last2=Peters |first2=Godefridus J. |last3=Giovannetti |first3=Elisa |last4=Rodríguez |first4=Jose Antonio |date=2013-08-10 |title=USP1 deubiquitinase: cellular functions, regulatory mechanisms and emerging potential as target in cancer therapy |url=https://doi.org/10.1186/1476-4598-12-91 |journal=Molecular Cancer |volume=12 |issue=1 |pages=91 |doi=10.1186/1476-4598-12-91 |issn=1476-4598 |pmc=3750636 |pmid=23937906}}</ref>


==References== == References ==
{{reflist}} {{reflist}}


==Further reading== == Further reading ==
{{refbegin | 2}} {{refbegin | 2}}
*{{cite journal | vauthors=D'Andrea A, Pellman D |title=Deubiquitinating enzymes: a new class of biological regulators |journal=Crit. Rev. Biochem. Mol. Biol. |volume=33 |issue= 5 |pages= 337–52 |year= 1999 |pmid= 9827704 |doi=10.1080/10409239891204251 }} * {{cite journal | vauthors = D'Andrea A, Pellman D | title = Deubiquitinating enzymes: a new class of biological regulators | journal = Critical Reviews in Biochemistry and Molecular Biology | volume = 33 | issue = 5 | pages = 337–352 | year = 1999 | pmid = 9827704 | doi = 10.1080/10409239891204251 }}
*{{cite journal | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 |doi-access=free }} * {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = September 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 | doi-access = free }}
*{{cite journal |vauthors=Fujiwara T, Saito A, Suzuki M, etal |title=Identification and chromosomal assignment of USP1, a novel gene encoding a human ubiquitin-specific protease |journal=Genomics |volume=54 |issue= 1 |pages= 155–8 |year= 1999 |pmid= 9806842 |doi=10.1006/geno.1998.5554 }} * {{cite journal | vauthors = Fujiwara T, Saito A, Suzuki M, Shinomiya H, Suzuki T, Takahashi E, Tanigami A, Ichiyama A, Chung CH, Nakamura Y, Tanaka K | display-authors = 6 | title = Identification and chromosomal assignment of USP1, a novel gene encoding a human ubiquitin-specific protease | journal = Genomics | volume = 54 | issue = 1 | pages = 155–158 | date = November 1998 | pmid = 9806842 | doi = 10.1006/geno.1998.5554 }}
*{{cite journal | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000 | pmc=310948 }} * {{cite journal | vauthors = Hartley JL, Temple GF, Brasch MA | title = DNA cloning using in vitro site-specific recombination | journal = Genome Research | volume = 10 | issue = 11 | pages = 1788–1795 | date = November 2000 | pmid = 11076863 | pmc = 310948 | doi = 10.1101/gr.143000 }}
*{{cite journal |vauthors=Wiemann S, Weil B, Wellenreuther R, etal |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R | pmc=311072 }} * {{cite journal | vauthors = Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A | display-authors = 6 | title = Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs | journal = Genome Research | volume = 11 | issue = 3 | pages = 422–435 | date = March 2001 | pmid = 11230166 | pmc = 311072 | doi = 10.1101/gr.GR1547R }}
*{{cite journal |vauthors=Simpson JC, Wellenreuther R, Poustka A, etal |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 | pmc=1083732 }} * {{cite journal | vauthors = Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S | title = Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing | journal = EMBO Reports | volume = 1 | issue = 3 | pages = 287–292 | date = September 2000 | pmid = 11256614 | pmc = 1083732 | doi = 10.1093/embo-reports/kvd058 }}
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |doi-access=free }} * {{cite journal | vauthors = Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A | display-authors = 6 | title = From ORFeome to biology: a functional genomics pipeline | journal = Genome Research | volume = 14 | issue = 10B | pages = 2136–2144 | date = October 2004 | pmid = 15489336 | pmc = 528930 | doi = 10.1101/gr.2576704 }}
*{{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }} * {{cite journal | vauthors = Nijman SM, Huang TT, Dirac AM, Brummelkamp TR, Kerkhoven RM, D'Andrea AD, Bernards R | title = The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway | journal = Molecular Cell | volume = 17 | issue = 3 | pages = 331–339 | date = February 2005 | pmid = 15694335 | doi = 10.1016/j.molcel.2005.01.008 | hdl-access = free | hdl = 1874/17796 | s2cid = 19117200 }}
*{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }} * {{cite journal | vauthors = Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S | display-authors = 6 | title = The LIFEdb database in 2006 | journal = Nucleic Acids Research | volume = 34 | issue = Database issue | pages = D415–D418 | date = January 2006 | pmid = 16381901 | pmc = 1347501 | doi = 10.1093/nar/gkj139 }}
*{{cite journal |vauthors=Wiemann S, Arlt D, Huber W, etal |title=From ORFeome to biology: a functional genomics pipeline |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930 }}
*{{cite journal |vauthors=Nijman SM, Huang TT, Dirac AM, etal |title=The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway |journal=Mol. Cell |volume=17 |issue= 3 |pages= 331–9 |year= 2005 |pmid= 15694335 |doi= 10.1016/j.molcel.2005.01.008 |hdl=1874/17796 |hdl-access=free }}
*{{cite journal |vauthors=Mehrle A, Rosenfelder H, Schupp I, etal |title=The LIFEdb database in 2006 |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501 }}
{{refend}} {{refend}}





Latest revision as of 21:25, 14 December 2024

Protein-coding gene in the species Homo sapiens
USP1
Identifiers
AliasesUSP1, UBP, ubiquitin specific peptidase 1
External IDsOMIM: 603478; MGI: 2385198; HomoloGene: 2528; GeneCards: USP1; OMA:USP1 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)
Chromosome 1 (human)Genomic location for USP1Genomic location for USP1
Band1p31.3Start62,436,297 bp
End62,451,804 bp
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)
Chromosome 4 (mouse)Genomic location for USP1Genomic location for USP1
Band4|4 C6Start98,812,047 bp
End98,823,780 bp
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 4: 98.81 – 98.82 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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. PMID 38468288.

Further reading


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