TBC1D10A

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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TBC1 domain family member 10A is a protein that in humans is encoded by the TBC1D10A gene.[1][2]

Model organisms

Model organisms have been used in the study of TBC1D10A function. A conditional knockout mouse line, called Tbc1d10atm2a(EUCOMM)Wtsi[8][9] 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 — at the Wellcome Trust Sanger Institute.[10][11][12] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty three tests were carried out and one significant phenotype was reported. Homozygous mutant male adults had abnormal clinical chemistry, including decreased circulating LDL cholesterol, alanine transaminase and alkaline phosphatase levels.[6]

References

  1. Reczek D, Bretscher A (Apr 2001). "Identification of EPI64, a TBC/rabGAP domain-containing microvillar protein that binds to the first PDZ domain of EBP50 and E3KARP". J Cell Biol. 153 (1): 191–206. doi:10.1083/jcb.153.1.191. PMC 2185518. PMID 11285285.
  2. "Entrez Gene: TBC1D10A TBC1 domain family, member 10A".
  3. "Clinical chemistry data for Tbc1d10a". Wellcome Trust Sanger Institute.
  4. "Salmonella infection data for Tbc1d10a". Wellcome Trust Sanger Institute.
  5. "Citrobacter infection data for Tbc1d10a". Wellcome Trust Sanger Institute.
  6. 6.0 6.1 6.2 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.
  7. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  8. "International Knockout Mouse Consortium".
  9. "Mouse Genome Informatics".
  10. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  11. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  12. Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  13. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading