WWC1

WWC1
Identifiers
Aliases	WWC1, HBEBP3, HBEBP36, KIBRA, MEMRYQTL, PPP1R168, WW and C2 domain containing 1
External IDs	OMIM: 610533; MGI: 2388637; GeneCards: WWC1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2Z0U
Gene location (Human)
Chr.	Chromosome 5 (human)
End	168,472,303 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	35,871,354 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	23286
	211652
	ENSG00000113645
	ENSMUSG00000018849
	Q8IX03
	Q5SXA9
	NM_001161661; NM_001161662; NM_015238
	NM_170779
	NP_001155133; NP_001155134; NP_056053
	NP_740749
	Wikidata
View/Edit Human	View/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.

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 2 3 GRCh38: Ensembl release 89: ENSG00000113645 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000018849 – 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.
↑ 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.
↑ 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.
↑ "Entrez Gene: WWC1 WW and C2 domain containing 1".
↑ "dbSNP: rs17070145".
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑
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.
↑ 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.
↑ 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

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000113645 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid10048485-5] 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.

[pmid12559952-6] 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.

[entrez-7] "Entrez Gene: WWC1 WW and C2 domain containing 1".

[8] "dbSNP: rs17070145".

[pmid18205171-9] 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.

[pmid17353070-10] 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.

[pmid19397951-11] 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.

[pmid18789830-14] 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.

[mwATA] "Brain Protein Linked To Alzheimer's Disease". ScienceDaily (Press release). September 16, 2008.

[pmid20552044-15] 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.

[pmid15081397-16] 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.

WWC1

Research on human memory

Interactions

References

Further reading

External links