OTU domain containing 6B is a protein that in humans is encoded by the OTUD6B gene .[ 5]
OTUD6B is a functional deubiquitinating enzyme , a class of protease that specifically cleaves ubiquitin linkages, negating the action of ubiquitin ligases . OTUD6B, also known as DUBA5, belongs to a DUB subfamily characterized by an ovarian tumor domain (OTU).[ 5] OTUD6B function may be connected to growth and proliferation.[ 6] [ 7] This hypothesis is supported by a recent study indicating that OTUD6B knock out mice, obtained through exon 4 deletion, are subviable and smaller in size.[ 8] In humans, OTUD6B mutations have been connected to an intellectual disability syndrome associated with dysmorphic features.[ 8]
^ a b c GRCh38: Ensembl release 89: ENSG00000155100 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040550 – 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 .
^ a b "Entrez Gene: OTU domain containing 6B" . Retrieved 2011-08-30 .
^ Sobol A, Askonas C, Alani S, Weber MJ, Ananthanarayanan V, Osipo C, Bocchetta M (November 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 (January 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 (2017-04-06). "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 .
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 (May 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 .