Biology:CLDN14
 Generic protein structure example |
Claudin-14 is a protein that in humans is encoded by the CLDN14 gene.[1][2] It belongs to a related family of proteins called claudins.
The protein encoded by CLDN14 is an integral membrane protein and a component of tight junctions, one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets. Tight junctions form continuous seals around cells and serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space.
These junctions are composed of sets of continuous networking protein strands in the outer surface of the cell membrane, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The CLDN14 protein also binds to WW domain of Yes-associated protein.
Defects in CLDN14 are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. Two transcript variants encoding the same protein have been found for this gene.[2]
There are also suggestions that CLDN14 plays a role in tumour angiogenesis (blood vessel formation),[3] as deletion of a single copy of this gene leads to tight junction defects and leaky blood vessels in a mouse model.
References
- ↑ "Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29". Cell 104 (1): 165–72. Feb 2001. doi:10.1016/S0092-8674(01)00200-8. PMID 11163249.
- ↑ 2.0 2.1 "Entrez Gene: CLDN14 claudin 14". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23562.
- ↑ "Stromal Claudin14-Heterozygosity, but Not Deletion, Increases Tumour Blood Leakage without Affecting Tumour Growth.". PLOS ONE 8 (5): e62516. 2013. doi:10.1371/journal.pone.0062516. PMID 23675413. Bibcode: 2013PLoSO...862516B.
External links
- Human CLDN14 genome location and CLDN14 gene details page in the UCSC Genome Browser.
Further reading
- "Tight junctions of the blood–brain barrier". Cell. Mol. Neurobiol. 20 (1): 57–76. 2000. doi:10.1023/A:1006995910836. PMID 10690502.
- "The roles of claudin superfamily proteins in paracellular transport". Traffic 2 (2): 93–8. 2001. doi:10.1034/j.1600-0854.2001.020203.x. PMID 11247307.
- "Multifunctional strands in tight junctions". Nat. Rev. Mol. Cell Biol. 2 (4): 285–93. 2001. doi:10.1038/35067088. PMID 11283726.
- "Claudin-based barrier in simple and stratified cellular sheets". Curr. Opin. Cell Biol. 14 (5): 531–6. 2003. doi:10.1016/S0955-0674(02)00362-9. PMID 12231346.
- "Tight junction proteins". Prog. Biophys. Mol. Biol. 81 (1): 1–44. 2003. doi:10.1016/S0079-6107(02)00037-8. PMID 12475568.
- "The WW domain of Yes-associated protein binds a proline-rich ligand that differs from the consensus established for Src homology 3-binding modules". Proc. Natl. Acad. Sci. U.S.A. 92 (17): 7819–23. 1995. doi:10.1073/pnas.92.17.7819. PMID 7644498. Bibcode: 1995PNAS...92.7819C.
- "The DNA sequence of human chromosome 21". Nature 405 (6784): 311–9. 2000. doi:10.1038/35012518. PMID 10830953. Bibcode: 2000Natur.405..311H.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss". Clin. Genet. 64 (1): 65–9. 2004. doi:10.1034/j.1399-0004.2003.00101.x. PMID 12791041.
- "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. 2003. doi:10.1101/gr.1293003. PMID 12975309.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Palmitoylation of claudins is required for efficient tight-junction localization". J. Cell Sci. 118 (Pt 7): 1427–36. 2005. doi:10.1242/jcs.01735. PMID 15769849.
- "Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro". Hum. Mutat. 25 (6): 543–9. 2006. doi:10.1002/humu.20172. PMID 15880785.
- "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics 7: 155. 2006. doi:10.1186/1471-2164-7-155. PMID 16780588.
- "A systems proteomics view of the endogenous human claudin protein family". J Proteome Res 15 (2): 339–359. 2015. doi:10.1021/acs.jproteome.5b00769. PMID 26680015. PMC 4777318. https://archive-ouverte.unige.ch/unige:79118/ATTACHMENT01.
- Sticky cells, blood vessels and cancer – the paradox of Claudin-14 - Marianne Baker, Cancer Research UK Science Update blog, 14 June 2013
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