TBC1D10A

TBC1 domain family member 10A is a protein that in humans is encoded by the TBC1D10A gene.[5][6]

TBC1D10A
Identifiers
Aliases	TBC1D10A, EPI64, TBC1D10, dJ130H16.1, dJ130H16.2, TBC1 domain family member 10A
External IDs	OMIM: 610020 MGI: 2144164 HomoloGene: 32762 GeneCards: TBC1D10A
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q12.2 Start 30,291,990 bp[1] End 30,327,046 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 A1 Start 4,186,789 bp[2] End 4,215,505 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • PDZ domain binding • GO:0001948 protein binding • guanyl-nucleotide exchange factor activity • Rab GTPase binding • GO:0005097, GO:0005099, GO:0005100 GTPase activator activity • cadherin binding Cellular component • microvilli • cell membrane • cell projection • extracellular exosome • endomembrane system • cytosol • intracellular Biological process • regulation of cilium assembly • activation of cysteine-type endopeptidase activity • retrograde transport, endosome to Golgi • positive regulation of proteolysis • GO:0032861, GO:0032862, GO:0032856 activation of GTPase activity • regulation of vesicle fusion • intracellular protein transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	83874	103724
Ensembl	ENSG00000099992	ENSMUSG00000034412
UniProt	Q9BXI6	P58802
RefSeq (mRNA)	NM_031937 NM_001204240	NM_134023
RefSeq (protein)	NP_001191169 NP_114143 NP_001191169.1 NP_114143.1	NP_598784
Location (UCSC)	Chr 22: 30.29 – 30.33 Mb	Chr 11: 4.19 – 4.22 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Tbc1d10a knockout mouse phenotype

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[7]
Haematology	Normal
Peripheral blood lymphocytes	Normal
Heart weight	Normal
Tail epidermis wholemount	Normal
Brain histopathology	Normal
Salmonella infection	Normal[8]
Citrobacter infection	Normal[9]
All tests and analysis from[10][11]

Model organisms have been used in the study of TBC1D10A function. A conditional knockout mouse line, called Tbc1d10a^{tm2a(EUCOMM)Wtsi}[12][13] 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.[14][15][16] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] 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.[10]

References

1. GRCh38: Ensembl release 89: ENSG00000099992 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034412 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: TBC1D10A TBC1 domain family, member 10A".
7. "Clinical chemistry data for Tbc1d10a". Wellcome Trust Sanger Institute.
8. "Salmonella infection data for Tbc1d10a". Wellcome Trust Sanger Institute.
9. "Citrobacter infection data for Tbc1d10a". Wellcome Trust Sanger Institute.
10. 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.
11. Mouse Resources Portal, Wellcome Trust Sanger Institute.
12. "International Knockout Mouse Consortium".
13. "Mouse Genome Informatics".
14. 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.
15. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
16. 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.
17. 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

• 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.
• 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.