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OTUD6B

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OTUD6B
Identifiers
AliasesOTUD6B, DUBA-5, DUBA5, CGI-77, OTU domain containing 6B, IDDFSDA, OTU deubiquitinase 6B
External IDsOMIM: 612021; MGI: 1919451; HomoloGene: 6064; GeneCards: OTUD6B; OMA:OTUD6B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001286745
NM_016023

NM_152812

RefSeq (protein)

NP_001273674
NP_057107

NP_690025

Location (UCSC)Chr 8: 91.07 – 91.09 MbChr 4: 14.81 – 14.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000155100Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040550Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: OTU domain containing 6B". Retrieved 2011-08-30.
  6. ^ 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.
  7. ^ 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.
  8. ^ 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.

Further reading

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