Biology:TBC1D10A
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
TBC1 domain family member 10A is a protein that in humans is encoded by the TBC1D10A gene.[1][2]
Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Fertility | Normal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Abnormal[3] |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Heart weight | Normal |
| Tail epidermis wholemount | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal[4] |
| Citrobacter infection | Normal[5] |
| All tests and analysis from[6][7] |
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
- ↑ "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. Apr 2001. doi:10.1083/jcb.153.1.191. PMID 11285285.
- ↑ "Entrez Gene: TBC1D10A TBC1 domain family, member 10A". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83874.
- ↑ "Clinical chemistry data for Tbc1d10a". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MABW/plasma-chemistry/.
- ↑ "Salmonella infection data for Tbc1d10a". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MABW/salmonella-challenge/.
- ↑ "Citrobacter infection data for Tbc1d10a". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MABW/citrobacter-challenge/.
- ↑ 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.
- ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ↑ "International Knockout Mouse Consortium". http://www.knockoutmouse.org/martsearch/search?query=Tbc1d10a.
- ↑ "Mouse Genome Informatics". http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4432519.
- ↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M. et al. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMID 21677750.
- ↑ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ↑ "A mouse for all reasons". Cell 128 (1): 9–13. January 2007. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. 2011. doi:10.1186/gb-2011-12-6-224. PMID 21722353.
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.
- "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. 1999. doi:10.1038/990031. PMID 10591208. Bibcode: 1999Natur.402..489D.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. 2005. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
- "Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution.". Science 308 (5725): 1149–54. 2005. doi:10.1126/science.1108625. PMID 15790807. Bibcode: 2005Sci...308.1149C.
- "Examples of the complex architecture of the human transcriptome revealed by RACE and high-density tiling arrays.". Genome Res. 15 (7): 987–97. 2005. doi:10.1101/gr.3455305. PMID 15998911.
- "Identification of EPI64 as a GTPase-activating protein specific for Rab27A.". J. Biol. Chem. 281 (42): 31823–31. 2006. doi:10.1074/jbc.M603808200. PMID 16923811.
- "EPI64 regulates microvillar subdomains and structure.". J. Cell Biol. 175 (5): 803–13. 2007. doi:10.1083/jcb.200604046. PMID 17145964.
 |
