OTUD6B

OTUD6B
Identifiers
Aliases	OTUD6B, DUBA-5, DUBA5, CGI-77, OTU domain containing 6B, IDDFSDA, OTU deubiquitinase 6B
External IDs	OMIM: 612021; MGI: 1919451; HomoloGene: 6064; GeneCards: OTUD6B; OMA:OTUD6B - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	91,087,095 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	14,826,587 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; pancreatic epithelial cell; ; Achilles tendon; ; mucosa of paranasal sinus; ; corpus callosum; ; epithelium of colon; ; ventricular zone; ; gastrocnemius muscle; ; deltoid muscle; ; ganglionic eminence;
	Top expressed in
	morula; ; muscle of thigh; ; dentate gyrus of hippocampal formation granule cell; ; right kidney; ; spermatid; ; proximal tubule; ; epiblast; ; embryo; ; neural tube; ; yolk sac;
	More reference expression data
	n/a
Gene ontology
Molecular function	peptidase activity; cysteine-type peptidase activity; hydrolase activity; thiol-dependent deubiquitinase;
Cellular component	eukaryotic translation initiation factor 4F complex;
Biological process	proteolysis; cell population proliferation; protein deubiquitination; negative regulation of translation; proteasome assembly; positive regulation of translation;
	Sources:Amigo / QuickGO
Orthologs
	51633
	72201
	ENSG00000155100
	ENSMUSG00000040550
	Q8N6M0
	Q8K2H2
	NM_001286745; NM_016023
	NM_152812
	NP_001273674; NP_057107
	NP_690025
	Wikidata
View/Edit Human	View/Edit Mouse

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]

References

^ ^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.

References

Further reading