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WWC1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2Z0U
Identifiers
Aliases	WWC1, HBEBP3, HBEBP36, KIBRA, MEMRYQTL, PPP1R168, WW and C2 domain containing 1
External IDs	OMIM: 610533; MGI: 2388637; HomoloGene: 69180; GeneCards: WWC1; OMA:WWC1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5q34 Start 168,291,645 bp End 168,472,303 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 A4 Start 35,729,227 bp End 35,871,354 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone parotid gland buccal mucosa cell renal medulla caudate nucleus putamen kidney tubule human kidney nucleus accumbens islet of Langerhans Top expressed in vestibular membrane of cochlear duct Epithelium of choroid plexus lacrimal gland choroid plexus of fourth ventricle retinal pigment epithelium right lung lobe parotid gland vestibular sensory epithelium ciliary body conjunctival fornix More reference expression data BioGPS n/a
Gene ontology Molecular function transcription coactivator activity kinase binding protein binding molecular adaptor activity Cellular component cytoplasm cytosol cell projection membrane plasma membrane ruffle membrane perinuclear region of cytoplasm nucleus protein-containing complex Biological process regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II hippo signaling transcription, DNA-templated negative regulation of hippo signaling establishment of cell polarity regulation of hippo signaling negative regulation of organ growth cell migration positive regulation of MAPK cascade regulation of intracellular transport positive regulation of transcription of Notch receptor target Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 11: 35.73 – 35.87 Mb PubMed search
Wikidata
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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.

Research on human memory

A single nucleotide polymorphism (rs17070145) in the gene has been associated with human memory performance and cognitive ability in various studies since 2006. While no significant support for KIBRA's association with memory was found in a 2008 study with 584 subjects, the original 2006 study was replicated in a smaller sample of an elderly population in 2008. Two subsequent studies in 2009 in indicated that KIBRA is specifically associated with forgetting of non-semantic material as well as cognitive flexibility among smokers and non-smokers. KIBRA SNPs have been shown to increase hippocampal volume and affect spatial ability and scientific achievement.

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

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. KIBRA has been shown to interact with Protein kinase Mζ.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000113645 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000018849 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, et al. (December 1998). "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 Research. 5 (6): 355–364. doi:10.1093/dnares/5.6.355. PMID 10048485.
6. Kremerskothen J, Plaas C, Büther K, Finger I, Veltel S, Matanis T, et al. (January 2003). "Characterization of KIBRA, a novel WW domain-containing protein". Biochemical and Biophysical Research Communications. 300 (4): 862–867. doi:10.1016/S0006-291X(02)02945-5. PMID 12559952.
7. "Entrez Gene: WWC1 WW and C2 domain containing 1".
8. "dbSNP: rs17070145".
9. Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KN, Wagoner AP, et al. (July 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): 667–668. doi:10.1002/ajmg.b.30658. hdl:11858/00-001M-0000-0012-C950-9. PMID 18205171. S2CID 11769730.
10. Schaper K, Kolsch H, Popp J, Wagner M, Jessen F (July 2008). "KIBRA gene variants are associated with episodic memory in healthy elderly". Neurobiology of Aging. 29 (7): 1123–1125. doi:10.1016/j.neurobiolaging.2007.02.001. PMID 17353070. S2CID 35149885.
11. Bates TC, Price JF, Harris SE, Marioni RE, Fowkes FG, Stewart MC, et al. (July 2009). "Association of KIBRA and memory". Neuroscience Letters. 458 (3): 140–143. doi:10.1016/j.neulet.2009.04.050. PMID 19397951. S2CID 143816223.
12. Schuck NW, Doeller CF, Schjeide BM, Schröder J, Frensch PA, Bertram L, Li SC (October 2013). "Aging and KIBRA/WWC1 genotype affect spatial memory processes in a virtual navigation task". Hippocampus. 23 (10): 919–930. doi:10.1002/hipo.22148. hdl:21.11116/0000-0001-716B-8. PMID 23733450. S2CID 1787467.
13. Ahmetov II, Valeeva EV, Yerdenova MB, Datkhabayeva GK, Bouzid A, Bhamidimarri PM, et al. (January 2023). "KIBRA Gene Variant Is Associated with Ability in Chess and Science". Genes. 14 (1): 204. doi:10.3390/genes14010204. PMC 9859436. PMID 36672945.
14. Corneveaux JJ, Liang WS, Reiman EM, Webster JA, Myers AJ, Zismann VL, et al. (June 2010). "Evidence for an association between KIBRA and late-onset Alzheimer's disease". Neurobiology of Aging. 31 (6): 901–909. doi:10.1016/j.neurobiolaging.2008.07.014. PMC 2913703. PMID 18789830.
    • "Brain Protein Linked To Alzheimer's Disease". ScienceDaily (Press release). September 16, 2008.
15. 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.
16. Büther K, Plaas C, Barnekow A, Kremerskothen J (May 2004). "KIBRA is a novel substrate for protein kinase Czeta". Biochemical and Biophysical Research Communications. 317 (3): 703–707. doi:10.1016/j.bbrc.2004.03.107. PMID 15081397.

Further reading

• Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KN, Wagoner AP, et al. (July 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): 667–668. doi:10.1002/ajmg.b.30658. hdl:11858/00-001M-0000-0012-C950-9. PMID 18205171. S2CID 11769730.
• 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): 1672–1676. doi:10.1111/j.1582-4934.2008.00229.x. PMC 3918083. PMID 18194457.
• Hilton HN, Stanford PM, Harris J, Oakes SR, Kaplan W, Daly RJ, Ormandy CJ (March 2008). "KIBRA interacts with discoidin domain receptor 1 to modulate collagen-induced signalling". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1783 (3): 383–393. doi:10.1016/j.bbamcr.2007.12.007. PMID 18190796.
• Rodríguez-Rodríguez E, Infante J, Llorca J, Mateo I, Sánchez-Quintana C, García-Gorostiaga I, et al. (February 2009). "Age-dependent association of KIBRA genetic variation and Alzheimer's disease risk". Neurobiology of Aging. 30 (2): 322–324. doi:10.1016/j.neurobiolaging.2007.07.003. PMID 17707552. S2CID 28263842.
• Schaper K, Kolsch H, Popp J, Wagner M, Jessen F (July 2008). "KIBRA gene variants are associated with episodic memory in healthy elderly". Neurobiology of Aging. 29 (7): 1123–1125. doi:10.1016/j.neurobiolaging.2007.02.001. PMID 17353070. S2CID 35149885.
• Papassotiropoulos A, Stephan DA, Huentelman MJ, Hoerndli FJ, Craig DW, Pearson JV, et al. (October 2006). "Common Kibra alleles are associated with human memory performance". Science. 314 (5798): 475–478. Bibcode:2006Sci...314..475P. doi:10.1126/science.1129837. PMID 17053149. S2CID 17727381.
• Rayala SK, den Hollander P, Manavathi B, Talukder AH, Song C, Peng S, et al. (July 2006). "Essential role of KIBRA in co-activator function of dynein light chain 1 in mammalian cells". The Journal of Biological Chemistry. 281 (28): 19092–19099. doi:10.1074/jbc.M600021200. PMID 16684779.
• Büther K, Plaas C, Barnekow A, Kremerskothen J (May 2004). "KIBRA is a novel substrate for protein kinase Czeta". Biochemical and Biophysical Research Communications. 317 (3): 703–707. doi:10.1016/j.bbrc.2004.03.107. PMID 15081397.

External links

• Division of Cognitive Neuroscience, University of Basel, Switzerland

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