From Wikipedia, the free encyclopedia
TBC1 domain family member 10A is a protein that in humans is encoded by the TBC1D10A gene .[ 5] [ 6]
Model organisms
Model organisms have been used in the study of TBC1D10A function. A conditional knockout mouse line, called Tbc1d10atm2a(EUCOMM)Wtsi [ 12] [ 13] 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 .[ 14] [ 15] [ 16] phenotypic screen to determine the effects of deletion.[ 10] [ 17] phenotype was reported. Homozygous mutant male adults had abnormal clinical chemistry , including decreased circulating LDL cholesterol , alanine transaminase and alkaline phosphatase levels.[ 10]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000099992 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034412 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 . ^ "Entrez Gene: TBC1D10A TBC1 domain family, member 10A" .^ "Clinical chemistry data for Tbc1d10a" . Wellcome Trust Sanger Institute.^ "Salmonella infection data for Tbc1d10a" . Wellcome Trust Sanger Institute.^ "Citrobacter infection data for Tbc1d10a" . Wellcome Trust Sanger Institute.^ 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 . ^ Mouse Resources Portal , Wellcome Trust Sanger Institute.^ "International Knockout Mouse Consortium" .^ "Mouse Genome Informatics" .^ 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 . ^ Dolgin E (June 2011). "Mouse library set to be knockout" . Nature . 474 (7351): 262–3. doi :10.1038/474262a PMID 21677718 . ^ 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 . ^ 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 . {{cite journal }}: CS1 maint: unflagged free DOI (link )
Further reading
Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence" . Genome Res . 8 (11): 1097–108. doi :10.1101/gr.8.11.1097 PMID 9847074 . Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22" . Nature . 402 (6761): 489–95. doi :10.1038/990031 PMID 10591208 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 . PMC 139241 PMID 12477932 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome" . Genome Biol . 5 (10): R84. doi :10.1186/gb-2004-5-10-r84 . PMC 545604 PMID 15461802 . {{cite journal }}: CS1 maint: unflagged free DOI (link )Cheng J, Kapranov P, Drenkow J, et al. (2005). "Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution". Science . 308 (5725): 1149–54. doi :10.1126/science.1108625 . PMID 15790807 . Kapranov P, Drenkow J, Cheng J, et al. (2005). "Examples of the complex architecture of the human transcriptome revealed by RACE and high-density tiling arrays" . Genome Res . 15 (7): 987–97. doi :10.1101/gr.3455305 . PMC 1172043 PMID 15998911 . Itoh T, Fukuda M (2006). "Identification of EPI64 as a GTPase-activating protein specific for Rab27A" . J. Biol. Chem . 281 (42): 31823–31. doi :10.1074/jbc.M603808200 PMID 16923811 . Hanono A, Garbett D, Reczek D, et al. (2007). "EPI64 regulates microvillar subdomains and structure" . J. Cell Biol . 175 (5): 803–13. doi :10.1083/jcb.200604046 . PMC 2064679 PMID 17145964 .
