OTUD6B

OTUD6B
Identifiers
AliasesOTUD6B, DUBA-5, DUBA5, CGI-77, OTU domain containing 6B, IDDFSDA
External IDsMGI: 1919451 HomoloGene: 6064 GeneCards: OTUD6B
Gene location (Human)
Chr.Chromosome 8 (human)[1]
Band8q21.3Start91,070,196 bp[1]
End91,087,095 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

51633

72201

Ensembl

ENSG00000155100

ENSMUSG00000040550

UniProt

Q8N6M0

Q8K2H2

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]

Previous studies on model organisms (see below) cannot be verified by this editor.

Model organisms have been used in the study of OTUD6B function. A conditional knockout mouse line, called Otud6btm1a(EUCOMM)Wtsi[13][14] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[15][16][17]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[11][18] Twenty five tests were carried out on homozygous mutant adult mice, however no significant abnormalities were observed.[11]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000155100 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040550 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "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: 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. doi:10.1371/journal.pone.0014514. PMC 3022568. PMID 21267069.
  8. 1 2 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.
  9. ↑ "Salmonella infection data for Otud6b". Wellcome Trust Sanger Institute.
  10. ↑ "Citrobacter infection data for Otud6b". Wellcome Trust Sanger Institute.
  11. 1 2 3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
  12. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  13. ↑ "International Knockout Mouse Consortium".
  14. ↑ "Mouse Genome Informatics".
  15. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  16. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  17. ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  18. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

  • 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. 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.


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