WWC1

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WW and C2 domain containing 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols WWC1 ; HBEBP3; HBEBP36; KIBRA
External IDs OMIM610533 MGI2388637 HomoloGene69180 GeneCards: WWC1 Gene
Orthologs
Species Human Mouse
Entrez 23286 211652
Ensembl ENSG00000113645 ENSMUSG00000018849
UniProt Q8IX03 Q5SXA9
RefSeq (mRNA) NM_001161661 NM_170779
RefSeq (protein) NP_001155133 NP_740749
Location (UCSC) Chr 5:
167.72 – 167.9 Mb
Chr 11:
35.84 – 35.98 Mb
PubMed search [1] [2]

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 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[edit]

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[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ "Entrez Gene: WWC1 WW and C2 domain containing 1". 
  4. ^ 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. 
  5. ^ 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". American Journal of Medical Genetics 147B (5): 667–8. doi:10.1002/ajmg.b.30658. PMID 18205171. 
  6. ^ 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. 
  7. ^ 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. 
  8. ^ 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. Lay summaryScienceDaily. 
  9. ^ 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. 
  10. ^ 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[edit]

External links[edit]