Kaptin (actin binding protein)
Kaptin is a protein that in humans is encoded by the KPTN gene.[5][6]
| KPTN | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | KPTN, 2E4, MRT41, kaptin (actin binding protein), kaptin, actin binding protein, KICS4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 615620 MGI: 1890380 HomoloGene: 5127 GeneCards: KPTN | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Fertility | Normal |
| Body weight | Abnormal[7] |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Abnormal[8] |
| Auditory brainstem response | Normal |
| DEXA | Abnormal[9] |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Abnormal[10] |
| Haematology | Normal |
| Peripheral blood lymphocytes | Abnormal[11] |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Salmonella infection | Abnormal[12] |
| Citrobacter infection | Normal[13] |
| All tests and analysis from[14][15] |
Model organisms have been used in the study of KPTN function. A conditional knockout mouse line, called Kptntm1a(EUCOMM)Wtsi[16][17] 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.[18][19][20]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[14][21] Twenty two tests were carried out on mutant mice and six significant abnormalities were observed.[14] 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.[14]
Clinical
Mutations in this gene have been associated with a syndrome of acrocephaly, muscular hypotonia, global development delay, dyspraxia and hand-mouth synkinesia.[22]
References
- GRCh38: Ensembl release 89: ENSG00000118162 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000006021 - 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.
- Bearer EL, Abraham MT (February 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". European Journal of Cell Biology. 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.
- 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. S2CID 85911512.
- Mouse Resources Portal, Wellcome Trust Sanger Institute.
- "International Knockout Mouse Consortium".
- "Mouse Genome Informatics".
- Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, et al. (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. 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. S2CID 18872015.
- van der Weyden L, White JK, Adams DJ, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
- Lucena PH, Armani-Franceschi G, Bispo-Torres AC, Bandeira ID, Lucena MF, Maldonado I, et al. (2020). "KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report". Am J Med Genet A. 182 (4): 762–767. doi:10.1002/ajmg.a.61492. PMID 31999056. S2CID 210945773.
Further reading
- Bearer EL, Prakash JM, Li Z (2002). "Actin dynamics in platelets". International Review of Cytology. 217: 137–82. doi:10.1016/S0074-7696(02)17014-8. ISBN 9780123646217. PMC 3376087. PMID 12019562.
- Bearer EL (March 1992). "An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells". The Journal of Neuroscience. 12 (3): 750–61. doi:10.1523/jneurosci.12-03-00750.1992. PMC 3376081. PMID 1372044.
- Maruyama K, Sugano S (January 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, Suyama A, Sugano S (October 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, Li Z, Mark HF, Smith RJ, Jackson CL (May 2000). "2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4". Annals of Human Genetics. 64 (Pt 3): 189–96. doi:10.1046/j.1469-1809.2000.6430189.x. PMC 3376086. PMID 11409409.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
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