OTUD6B explained

OTU domain containing 6B is a protein that in humans is encoded by the OTUD6B gene.^[1]

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).^[1] OTUD6B function may be connected to growth and proliferation.^{[2] [3]} 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.^[4] In humans, OTUD6B mutations have been connected to an intellectual disability syndrome associated with dysmorphic features.^[4]

Further reading

• Xu Z, Zheng Y, Zhu Y, Kong X, Hu L . Evidence for OTUD-6B participation in B lymphocytes cell cycle after cytokine stimulation . PLOS ONE . 6 . 1 . e14514 . 2011 . 21267069 . 3022568 . 10.1371/journal.pone.0014514 . 2011PLoSO...614514X . free .
• Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W . Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics . Genome Research . 10 . 5 . 703–13 . May 2000 . 10810093 . 310876 . 10.1101/gr.10.5.703 .
• Sowa ME, Bennett EJ, Gygi SP, Harper JW . Defining the human deubiquitinating enzyme interaction landscape . Cell . 138 . 2 . 389–403 . Jul 2009 . 19615732 . 2716422 . 10.1016/j.cell.2009.04.042 .

Notes and References

1. Web site: Entrez Gene: OTU domain containing 6B. 2011-08-30.
2. Sobol A, Askonas C, Alani S, Weber MJ, Ananthanarayanan V, Osipo C, Bocchetta M . Deubiquitinase OTUD6B Isoforms are Important Regulators of Growth and Proliferation . Molecular Cancer Research . November 2016 . 27864334 . 10.1158/1541-7786.MCR-16-0281-T . 15 . 2 . 5290186 . 117–127.
3. Xu Z, Zheng Y, Zhu Y, Kong X, Hu L . Evidence for OTUD-6B participation in B lymphocytes cell cycle after cytokine stimulation . PLOS ONE . 6 . 1 . e14514 . January 2011 . 21267069 . 3022568 . 10.1371/journal.pone.0014514 . 2011PLoSO...614514X . free .
4. 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. 10.1016/j.ajhg.2017.03.001. 1537-6605. 5384096. 28343629.