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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== ==Research==
UCH-L1 has been studied, in a 2020 paper by Sharma, et al for its association with neurodegenerative diseases (Parkinson's disease)<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 |url=https://pubmed.ncbi.nlm.nih.gov/32486284/ |issn=1422-0067}}</ref> 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 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 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>


== References == == References ==

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: ENSG00000162607Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000028560Ensembl, 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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