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.

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). OTUD6B function may be connected to growth and proliferation. 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. In humans, OTUD6B mutations have been connected to an intellectual disability syndrome associated with dysmorphic features.