Kaptin is a protein that in humans is encoded by the KPTN gene .[ 1] [ 2]
Model organisms
Model organisms have been used in the study of KPTN function. A conditional knockout mouse line, called Kptntm1a(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.[ 14] [ 15] [ 16]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[ 10] [ 17] mutant mice and six significant abnormalities were observed.[ 10] Homozygous mutant mice had hyperalbuminemia , decreased mature B cell numbers and increased susceptibility to bacterial infection . Female mice also had increased body weight, body fat and impaired glucose tolerance .[ 10]
References
↑ Bearer EL, Abraham MT (Jul 1999). "2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear" . Eur J Cell Biol . 78 (2): 117–26. doi :10.1016/s0171-9335(99)80013-2 . PMC 3376092 PMID 10099934 . ↑ "Entrez Gene: KPTN kaptin (actin binding protein)" .↑ "Body weight data for Kptn" . Wellcome Trust Sanger Institute.↑ "Glucose tolerance test data for Kptn" . Wellcome Trust Sanger Institute.↑ "DEXA data for Kptn" . Wellcome Trust Sanger Institute.↑ "Clinical chemistry data for Kptn" . Wellcome Trust Sanger Institute.↑ "Peripheral blood lymphocytes data for Kptn" . Wellcome Trust Sanger Institute.↑ "Salmonella infection data for Kptn" . Wellcome Trust Sanger Institute.↑ "Citrobacter infection data for Kptn" . Wellcome Trust Sanger Institute.↑ 10.0 10.1 10.2 10.3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica . 88 : 925–7. 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 (2011). "Mouse library set to be knockout". Nature . 474 (7351): 262–3. doi :10.1038/474262a . PMID 21677718 . ↑ Collins FS, Rossant J, Wurst W (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 .
Further reading
Bearer EL, Prakash JM, Li Z (2002). "Actin dynamics in platelets" . Int. Rev. Cytol . 217 : 137–82. doi :10.1016/S0074-7696(02)17014-8 . PMC 3376087 PMID 12019562 . Bearer EL (1992). "An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells". J. Neurosci . 12 (3): 750–61. PMID 1372044 . Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene . 138 (1–2): 171–4. doi :10.1016/0378-1119(94)90802-8 . PMID 8125298 . Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene . 200 (1–2): 149–56. doi :10.1016/S0378-1119(97)00411-3 . PMID 9373149 . Bearer EL, Chen AF, Chen AH, et al. (2001). "2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4" . Ann. Hum. Genet . 64 (Pt 3): 189–96. doi :10.1046/j.1469-1809.2000.6430189.x . PMC 3376086 PMID 11409409 . 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 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" . Genome Res . 16 (1): 55–65. doi :10.1101/gr.4039406 . PMC 1356129 PMID 16344560 . Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry" . Mol. Syst. Biol . 3 (1): 89. doi :10.1038/msb4100134 . PMC 1847948 PMID 17353931 .
