WWC1
Protein KIBRA also known as kidney and brain expressed protein (KIBRA) or WW domain-containing protein 1 (WWC1) is a protein that in humans is encoded by the WWC1 gene.[1][2][3]
A single nucleotide polymorphism (rs17070145) in the gene has been association with human memory performance in one 2006 study.[4] No significant support for association with memory was found in a large study with 584 subjects.[5] However it was replicated in a smaller study of the elderly.[6] A subsequent study in two large UK samples indicated that KIBRA is specifically associated with forgetting of non-semantic material.[7]
Studies have also begun to investigate the role of KIBRA in Alzheimer's disease.[8]
Interactions
KIBRA has at least 10 interaction partners, including synaptopodin, PKCζ and Dendrin, most of which modify synaptic plasticity. For instance, Dendrin is a post-synaptic protein with expression regulated by sleep deprivation.[9] KIBRA has been shown to interact with Protein kinase Mζ.[10]
References
- ^ Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (May 1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID 10048485.
- ^ Kremerskothen J, Plaas C, Buther K, Finger I, Veltel S, Matanis T, Liedtke T, Barnekow A (Jan 2003). "Characterization of KIBRA, a novel WW domain-containing protein". Biochem Biophys Res Commun 300 (4): 862–7. doi:10.1016/S0006-291X(02)02945-5. PMID 12559952.
- ^ "Entrez Gene: WWC1 WW and C2 domain containing 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23286.
- ^ Papassotiropoulos A, Stephan DA, Huentelman MJ, Hoerndli FJ, Craig DW, Pearson JV, Huynh KD, Brunner F, Corneveaux J, Osborne D, Wollmer MA, Aerni A, Coluccia D, Hänggi J, Mondadori CR, Buchmann A, Reiman EM, Caselli RJ, Henke K, de Quervain DJ (October 2006). "Common Kibra alleles are associated with human memory performance". Science 314 (5798): 475–8. doi:10.1126/science.1129837. PMID 17053149.
- ^ Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KN, Wagoner AP, Gumbs CE, Giegling I, Möller HJ, Francks C, Muglia P, Roses A, Gibson G, Weale ME, Rujescu D, Goldstein DB (July 2008). "Failure to replicate effect of Kibra on human memory in two large cohorts of European origin". Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B (5): 667–8. doi:10.1002/ajmg.b.30658. PMID 18205171.
- ^ Schaper K, Kolsch H, Popp J, Wagner M, Jessen F (July 2008). "KIBRA gene variants are associated with episodic memory in healthy elderly". Neurobiol. Aging 29 (7): 1123–5. doi:10.1016/j.neurobiolaging.2007.02.001. PMID 17353070.
- ^ Bates TC, Price JF, Harris SE, Marioni RE, Fowkes FG, Stewart MC, Murray GD, Whalley LJ, Starr JM, Deary IJ (July 2009). "Association of KIBRA and memory". Neurosci. Lett. 458 (3): 140–3. doi:10.1016/j.neulet.2009.04.050. PMID 19397951.
- ^ Corneveaux JJ, Liang WS, Reiman EM, Webster JA, Myers AJ, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Craig DW, Coon KD, Dunckley T, Bandy D, Lee W, Chen K, Beach TG, Mastroeni D, Grover A, Ravid R, Sando SB, Aasly JO, Heun R, Jessen F, Kölsch H, Rogers J, Hutton ML, Melquist S, Petersen RC, Alexander GE, Caselli RJ, Papassotiropoulos A, Stephan DA, Huentelman MJ (June 2010). "Evidence for an association between KIBRA and late-onset Alzheimer's disease". Neurobiol. Aging 31 (6): 901–9. doi:10.1016/j.neurobiolaging.2008.07.014. PMC 2913703. PMID 18789830. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2913703. Lay summary – ScienceDaily.
- ^ Schneider A, Huentelman MJ, Kremerskothen J, Duning K, Spoelgen R, Nikolich K (2010). "KIBRA: A New Gateway to Learning and Memory?". Frontiers in Aging Neuroscience 2: 4. doi:10.3389/neuro.24.004.2010. PMC 2874402. PMID 20552044. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2874402.
- ^ Büther, Katrin; Plaas Christian, Barnekow Angelika, Kremerskothen Joachim (May. 2004). "KIBRA is a novel substrate for protein kinase Czeta". Biochem. Biophys. Res. Commun. (United States) 317 (3): 703–7. doi:10.1016/j.bbrc.2004.03.107. ISSN 0006-291X. PMID 15081397.
Further reading
- Need AC, Attix DK, McEvoy JM, et al. (2008). "Failure to replicate effect of kibra on human memory in two large cohorts of European origin.". American Journal of Medical Genetics Part B Neuropsychiatric Genetics 147b (5): 667–8. doi:10.1002/ajmg.b.30658. PMID 18205171.
- Almeida OP, Schwab SG, Lautenschlager NT, et al. (2008). "KIBRA Genetic Polymorphism Influences Episodic Memory in Later Life, but Does Not Increase the Risk of Mild Cognitive Impairment.". Journal of Cellular and Molecular Medicine 12 (5A): 1672–6. doi:10.1111/j.1582-4934.2008.00229.x. PMID 18194457.
- Hilton HN, Stanford PM, Harris J, et al. (2008). "KIBRA interacts with discoidin domain receptor 1 to modulate collagen-induced signalling.". Biochim. Biophys. Acta 1783 (3): 383–93. doi:10.1016/j.bbamcr.2007.12.007. PMID 18190796.
- Rodríguez-Rodríguez E, Infante J, Llorca J, et al. (2009). "Age-dependent association of KIBRA genetic variation and Alzheimer's disease risk.". Neurobiol. Aging 30 (2): 322–4. doi:10.1016/j.neurobiolaging.2007.07.003. PMID 17707552.
- Schaper K, Kolsch H, Popp J, et al. (2008). "KIBRA gene variants are associated with episodic memory in healthy elderly.". Neurobiol. Aging 29 (7): 1123–5. doi:10.1016/j.neurobiolaging.2007.02.001. PMID 17353070.
- Papassotiropoulos A, Stephan DA, Huentelman MJ, et al. (2006). "Common Kibra alleles are associated with human memory performance.". Science 314 (5798): 475–8. doi:10.1126/science.1129837. PMID 17053149.
- Rayala SK, den Hollander P, Manavathi B, et al. (2006). "Essential role of KIBRA in co-activator function of dynein light chain 1 in mammalian cells.". J. Biol. Chem. 281 (28): 19092–9. doi:10.1074/jbc.M600021200. PMID 16684779.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Büther K, Plaas C, Barnekow A, Kremerskothen J (2004). "KIBRA is a novel substrate for protein kinase Czeta.". Biochem. Biophys. Res. Commun. 317 (3): 703–7. doi:10.1016/j.bbrc.2004.03.107. PMID 15081397.
- 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.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
External links