Aminokiselinska sekvenca
uredi
Dužina polipeptidnog lanca je 293 aminokiseline , а molekulska težina 33.813 Da .[ 6]
10 20 30 40 50 MEAVLTEELD EEEQLLRRHR KEKKELQAKI QGMKNAVPKN DKKRRKQLTE DVAKLEKEME QKHREELEQL KLTTKENKID SVAVNISNLV LENQPPRISK AQKRREKKAA LEKEREERIA EAEIENLTGA RHMESEKLAQ ILAARQLEIK QIPSDGHCMY KAIEDQLKEK DCALTVVALR SQTAEYMQSH VEDFLPFLTN PNTGDMYTPE EFQKYCEDIV NTAAWGGQLE LRALSHILQT PIEIIQADSP PIIVGEEYSK KPLILVYMRH AYGLGEHYNS VTRLVNIVTE NCS
OTUD6B je funkcionalan deubikvitinirajući enzim , klasa proteaza , koja specifično cijepa ubikvitinske veze, negirajući djelovanje ubikvitin ligaza . OTUD6B, poznat i kao DUBA5, pripada potporodici DUB, koju karakterizira tumorski domen jajnika (OTU).[ 5] proliferacijom .[ 7] [ 8] nokaut-miševa , dobiveni delecijom egzona 4, zamjenjivi i manje veličine.[ 9] [ 9]
U studiji funkcije OTUD6B-a upotrebljen su i modelni organizmi . Uvjetna linija nokaut-miševa , zvana Otud6btm1a(EUCOMM)Wtsi [ 14] [ 15] Međunarodnog konzorcija za nokaut-miševe — visokopropusnog projekta za generiranje mutageneze životinjskih bolesti i distribucije zainteresiranim naučnicima.[ 16] [ 17] [ 18]
Mužjaci i ženke podvrgnuti su standardiziranom fenotipskom pregledu , kako bi se utvrdili efekti delecija.[ 12] [ 19] homozigotnim mutantnim odraslim miševima, ali nisu uočene značajne abnormalnosti.[ 12]
^ a b c GRCh38: Ensembl release 89: ENSG00000155100 - Ensembl , maj 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040550 - Ensembl , maj 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 .^ a b "Entrez Gene: OTU domain containing 6B" . Pristupljeno 30. 8. 2011 .^ "UniProt, Q8N6M0" (jezik: engleski). Pristupljeno 20. 9. 2021 .^ Sobol A, Askonas C, Alani S, Weber MJ, Ananthanarayanan V, Osipo C, Bocchetta M (novembar 2016). "Deubiquitinase OTUD6B Isoforms are Important Regulators of Growth and Proliferation" . Molecular Cancer Research . 15 (2): 117–127. doi :10.1158/1541-7786.MCR-16-0281-T . PMC 5290186 PMID 27864334 . ^ Xu Z, Zheng Y, Zhu Y, Kong X, Hu L (januar 2011). "Evidence for OTUD-6B participation in B lymphocytes cell cycle after cytokine stimulation" . PLOS ONE . 6 (1): e14514. Bibcode :2011PLoSO...614514X . doi :10.1371/journal.pone.0014514 PMC 3022568 PMID 21267069 . ^ a b Santiago-Sim, Teresa; Burrage, Lindsay C.; Ebstein, Frédéric; Tokita, Mari J.; Miller, Marcus; Bi, Weimin; Braxton, Alicia A.; Rosenfeld, Jill A.; Shahrour, Maher (6. 4. 2017). "Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features" . American Journal of Human Genetics . 100 (4): 676–688. doi :10.1016/j.ajhg.2017.03.001 . ISSN 1537-6605 . PMC 5384096 PMID 28343629 . ^ "Salmonella infection data for Otud6b" . Wellcome Trust Sanger Institute.^ "Citrobacter infection data for Otud6b" . Wellcome Trust Sanger Institute.^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica . 88 (S248). doi :10.1111/j.1755-3768.2010.4142.x . S2CID 85911512 . ^ Mouse Resources Portal , Wellcome Trust Sanger Institute.^ "International Knockout Mouse Consortium" . Arhivirano s originala , 20. 3. 2012. Pristupljeno 5. 1. 2012 .^ "Mouse Genome Informatics" .^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function" . Nature . 474 (7351): 337–42. doi :10.1038/nature10163 . PMC 3572410 PMID 21677750 . ^ Dolgin E (Jun 2011). "Mouse library set to be knockout" . Nature . 474 (7351): 262–3. doi :10.1038/474262a PMID 21677718 . ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons" . Cell . 128 (1): 9–13. doi :10.1016/j.cell.2006.12.018 PMID 17218247 . S2CID 18872015 . ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism" . Genome Biology . 12 (6): 224. doi :10.1186/gb-2011-12-6-224 . PMC 3218837 PMID 21722353 .
Dopunska literatura
uredi
Xu Z, Zheng Y, Zhu Y, Kong X, Hu L (2011). "Evidence for OTUD-6B participation in B lymphocytes cell cycle after cytokine stimulation" . PLOS ONE . 6 (1): e14514. Bibcode :2011PLoSO...614514X . doi :10.1371/journal.pone.0014514 PMC 3022568 PMID 21267069 . Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (maj 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics" . Genome Research . 10 (5): 703–13. doi :10.1101/gr.10.5.703 . PMC 310876 PMID 10810093 . Sowa ME, Bennett EJ, Gygi SP, Harper JW (Jul 2009). "Defining the human deubiquitinating enzyme interaction landscape" . Cell . 138 (2): 389–403. doi :10.1016/j.cell.2009.04.042 . PMC 2716422 PMID 19615732 . 
