WWC1

WWC1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesWWC1, HBEBP3, HBEBP36, KIBRA, MEMRYQTL, PPP1R168, WW and C2 domain containing 1
External IDsMGI: 2388637 HomoloGene: 69180 GeneCards: WWC1
Gene location (Human)
Chr.Chromosome 5 (human)[1]
BandNo data availableStart168,291,651 bp[1]
End168,472,303 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

23286

211652

Ensembl

ENSG00000113645

ENSMUSG00000018849

UniProt

Q8IX03

Q5SXA9

RefSeq (mRNA)

NM_001161661
NM_001161662
NM_015238

NM_170779

RefSeq (protein)

NP_001155133
NP_001155134
NP_056053

NP_740749

Location (UCSC)Chr 5: 168.29 – 168.47 MbChr 5: 35.84 – 35.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5][6][7]

A single nucleotide polymorphism (rs17070145) [8] in the gene has been associated with human memory performance in one 2006 study.[9] No significant support for association with memory was found in a study with 584 subjects.[10] However it was replicated in a smaller study of the elderly.[11] A subsequent study in two large UK samples indicated that KIBRA is specifically associated with forgetting of non-semantic material.[12]

Studies have also begun to investigate the role of KIBRA in Alzheimer's disease.[13]

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.[14] KIBRA has been shown to interact with Protein kinase Mζ.[15]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000113645 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000018849 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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. PMID 10048485. doi:10.1093/dnares/5.6.355.
  6. ↑ Kremerskothen J, Plaas C, Büther 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. PMID 12559952. doi:10.1016/S0006-291X(02)02945-5.
  7. ↑ "Entrez Gene: WWC1 WW and C2 domain containing 1".
  8. ↑ "dbSNP: rs17070145".
  9. ↑ 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. PMID 17053149. doi:10.1126/science.1129837.
  10. ↑ 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. PMID 18205171. doi:10.1002/ajmg.b.30658.
  11. ↑ 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. PMID 17353070. doi:10.1016/j.neurobiolaging.2007.02.001.
  12. ↑ 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. PMID 19397951. doi:10.1016/j.neulet.2009.04.050.
  13. ↑ 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. PMC 2913703 Freely accessible. PMID 18789830. doi:10.1016/j.neurobiolaging.2008.07.014. Lay summary – ScienceDaily.
  14. ↑ 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. PMC 2874402 Freely accessible. PMID 20552044. doi:10.3389/neuro.24.004.2010.
  15. ↑ Büther K, Plaas C, Barnekow A, Kremerskothen J (May 2004). "KIBRA is a novel substrate for protein kinase Czeta". Biochem. Biophys. Res. Commun. 317 (3): 703–7. PMID 15081397. doi:10.1016/j.bbrc.2004.03.107.

Further reading

  • 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 (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. PMID 18205171. doi:10.1002/ajmg.b.30658. 
  • Almeida OP, Schwab SG, Lautenschlager NT, Morar B, Greenop KR, Flicker L, Wildenauer D (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. PMID 18194457. doi:10.1111/j.1582-4934.2008.00229.x. 
  • Hilton HN, Stanford PM, Harris J, Oakes SR, Kaplan W, Daly RJ, Ormandy CJ (2008). "KIBRA interacts with discoidin domain receptor 1 to modulate collagen-induced signalling.". Biochim. Biophys. Acta. 1783 (3): 383–93. PMID 18190796. doi:10.1016/j.bbamcr.2007.12.007. 
  • Rodríguez-Rodríguez E, Infante J, Llorca J, Mateo I, Sánchez-Quintana C, García-Gorostiaga I, Sánchez-Juan P, Berciano J, Combarros O (2009). "Age-dependent association of KIBRA genetic variation and Alzheimer's disease risk.". Neurobiol. Aging. 30 (2): 322–4. PMID 17707552. doi:10.1016/j.neurobiolaging.2007.07.003. 
  • Schaper K, Kolsch H, Popp J, Wagner M, Jessen F (2008). "KIBRA gene variants are associated with episodic memory in healthy elderly.". Neurobiol. Aging. 29 (7): 1123–5. PMID 17353070. doi:10.1016/j.neurobiolaging.2007.02.001. 
  • 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 (2006). "Common Kibra alleles are associated with human memory performance.". Science. 314 (5798): 475–8. PMID 17053149. doi:10.1126/science.1129837. 
  • Rayala SK, den Hollander P, Manavathi B, Talukder AH, Song C, Peng S, Barnekow A, Kremerskothen J, Kumar R (2006). "Essential role of KIBRA in co-activator function of dynein light chain 1 in mammalian cells.". J. Biol. Chem. 281 (28): 19092–9. PMID 16684779. doi:10.1074/jbc.M600021200. 
  • 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. PMID 15081397. doi:10.1016/j.bbrc.2004.03.107. 


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