Kaptin (actin binding protein)

Kaptin (actin binding protein)
Identifiers
Symbols	KPTN ; 2E4; MRT41
External IDs	OMIM: 615620 MGI: 1890380 HomoloGene: 5127 GeneCards: KPTN Gene
Gene ontology Molecular function • actin binding Cellular component • nucleus • microtubule organizing center • actin cytoskeleton • growth cone • stereocilium • perinuclear region of cytoplasm Biological process • movement of cell or subcellular component • actin filament organization • sensory perception of sound Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	11133	70394
Ensembl	ENSG00000118162	ENSMUSG00000006021
UniProt	Q9Y664	Q8VCX6
RefSeq (mRNA)	NM_001291296	NM_133727
RefSeq (protein)	NP_001278225	NP_598488
Location (UCSC)	Chr 19: 47.48 – 47.48 Mb	Chr 7: 16.12 – 16.13 Mb
PubMed search

Kaptin is a protein that in humans is encoded by the KPTN gene.^[1][2]

Model organisms

Kptn knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Abnormal[3]
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Abnormal[4]
Auditory brainstem response	Normal
DEXA	Abnormal[5]
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Abnormal[6]
Haematology	Normal
Peripheral blood lymphocytes	Abnormal[7]
Micronucleus test	Normal
Heart weight	Normal
Salmonella infection	Abnormal[8]
Citrobacter infection	Normal[9]
All tests and analysis from[10][11]

Model organisms have been used in the study of KPTN function. A conditional knockout mouse line, called Kptn^{tm1a(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.^[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[10][17] Twenty two tests were carried out on 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

1. 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. PMID 10099934.
2. "Entrez Gene: KPTN kaptin (actin binding protein)".
3. "Body weight data for Kptn". Wellcome Trust Sanger Institute.
4. "Glucose tolerance test data for Kptn". Wellcome Trust Sanger Institute.
5. "DEXA data for Kptn". Wellcome Trust Sanger Institute.
6. "Clinical chemistry data for Kptn". Wellcome Trust Sanger Institute.
7. "Peripheral blood lymphocytes data for Kptn". Wellcome Trust Sanger Institute.
8. "Salmonella infection data for Kptn". Wellcome Trust Sanger Institute.
9. "Citrobacter infection data for Kptn". Wellcome Trust Sanger Institute.
10. 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.
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 (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 (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

• 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.