From Wikipedia, the free encyclopedia
Jump to: navigation, search
TBC1 domain family, member 10A
Symbols TBC1D10A ; EPI64; TBC1D10; dJ130H16.1; dJ130H16.2
External IDs OMIM610020 MGI2144164 HomoloGene32762 GeneCards: TBC1D10A Gene
RNA expression pattern
PBB GE TBC1D10A gnf1h00555 at tn.png
More reference expression data
Species Human Mouse
Entrez 83874 103724
Ensembl ENSG00000099992 ENSMUSG00000034412
UniProt Q9BXI6 P58802
RefSeq (mRNA) NM_001204240 NM_134023
RefSeq (protein) NP_001191169 NP_598784
Location (UCSC) Chr 22:
30.69 – 30.72 Mb
Chr 11:
4.19 – 4.22 Mb
PubMed search [1] [2]

TBC1 domain family member 10A is a protein that in humans is encoded by the TBC1D10A gene.[1][2]

Model organisms[edit]

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]


  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. ^ a b c 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.  edit
  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[edit]