Claudins, such as CLDN19, are transmembrane proteins found at tight junctions. Tight junctions form barriers that control the passage of ions and molecules across an epithelial sheet and the movement of proteins and lipids between apical and basolateral domains of epithelial cells (Lee et al., 2006).[supplied by OMIM][5]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000164007 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000066058 - 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.
^Naeem M, Hussain S, Akhtar N (2011). "Mutation in the Tight-Junction Gene Claudin 19 (CLDN19) and Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis (FHHNC) and Severe Ocular Disease". American Journal of Nephrology. 34 (3): 241–248. doi:10.1159/000330854. PMID 21791920.
^Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Jüppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nürnberg P, Weber S (2006). "Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement". The American Journal of Human Genetics. 79 (5): 949–957. doi:10.1086/508617. PMC1698561. PMID 17033971.
External linksedit
Human CLDN19 genome location and CLDN19 gene details page in the UCSC Genome Browser.
Further readingedit
Kniesel U, Wolburg H (2000). "Tight junctions of the blood–brain barrier". Cell. Mol. Neurobiol. 20 (1): 57–76. doi:10.1023/A:1006995910836. PMID 10690502. S2CID 26473781.
Heiskala M, Peterson PA, Yang Y (2001). "The roles of claudin superfamily proteins in paracellular transport". Traffic. 2 (2): 93–8. doi:10.1034/j.1600-0854.2001.020203.x. PMID 11247307. S2CID 12132159.
Tsukita S, Furuse M, Itoh M (2001). "Multifunctional strands in tight junctions". Nat. Rev. Mol. Cell Biol. 2 (4): 285–93. doi:10.1038/35067088. PMID 11283726. S2CID 36524601.
Tsukita S, Furuse M (2003). "Claudin-based barrier in simple and stratified cellular sheets". Curr. Opin. Cell Biol. 14 (5): 531–6. doi:10.1016/S0955-0674(02)00362-9. PMID 12231346.
González-Mariscal L, Betanzos A, Nava P, Jaramillo BE (2003). "Tight junction proteins". Prog. Biophys. Mol. Biol. 81 (1): 1–44. doi:10.1016/S0079-6107(02)00037-8. PMID 12475568.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC528928. PMID 15489334.
Lee NP, Tong MK, Leung PP, et al. (2006). "Kidney claudin-19: localization in distal tubules and collecting ducts and dysregulation in polycystic renal disease". FEBS Lett. 580 (3): 923–31. doi:10.1016/j.febslet.2006.01.019. PMID 16427635. S2CID 21297265.
Konrad M, Schaller A, Seelow D, et al. (2006). "Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement". Am. J. Hum. Genet. 79 (5): 949–57. doi:10.1086/508617. PMC1698561. PMID 17033971.
Liu F, Koval M, Ranganathan S, Fanayan S, Hancock WS, Lundberg EK, Beavis RC, Lane L, Duek P, McQuade L, Kelleher NL, Baker MS (2015). "A systems proteomics view of the endogenous human claudin protein family". J Proteome Res. 15 (2): 339–359. doi:10.1021/acs.jproteome.5b00769. PMC4777318. PMID 26680015.
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.
cldn19, claudin, protein, that, humans, encoded, gene, belongs, group, claudins, claudin, been, implicated, magnesium, transport, available, structurespdbortholog, search, pdbe, rcsblist, codes3x29identifiersaliases, homg5, claudin, 19external, idsomim, 610036. Claudin 19 is a protein that in humans is encoded by the CLDN19 gene 5 It belongs to the group of claudins Claudin 19 has been implicated in magnesium transport 6 7 CLDN19Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes3X29IdentifiersAliasesCLDN19 HOMG5 claudin 19External IDsOMIM 610036 MGI 3033992 HomoloGene 17528 GeneCards CLDN19Gene location Human Chr Chromosome 1 human 1 Band1p34 2Start42 733 093 bp 1 End42 740 254 bp 1 Gene location Mouse Chr Chromosome 4 mouse 2 Band4 4 D2 1Start119 112 611 bp 2 End119 119 635 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed intrigeminal ganglionspinal gangliaretinal pigment epitheliumrenal medullatibial nervevena cavabody of tongueventral tegmental areatracheasuperior surface of tongueTop expressed insciatic nerveinner renal medullaouter renal medullaspinal ganglialipkidneylensproximal tubuleyolk sacutricleMore reference expression dataBioGPSn aGene ontologyMolecular functionstructural molecule activity identical protein binding protein bindingCellular componentcytoplasm integral component of membrane cell junction plasma membrane basolateral plasma membrane apical junction complex nucleus bicellular tight junction membraneBiological processcalcium independent cell cell adhesion via plasma membrane cell adhesion molecules apical junction assembly neuronal action potential propagation response to stimulus visual perception tight junction organizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez149461242653EnsemblENSG00000164007ENSMUSG00000066058UniProtQ8N6F1Q9ET38RefSeq mRNA NM 148960NM 001123395NM 001185117NM 001038590NM 153105RefSeq protein NP 001116867NP 001172046NP 683763NP 001033679NP 694745Location UCSC Chr 1 42 73 42 74 MbChr 4 119 11 119 12 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseClaudins such as CLDN19 are transmembrane proteins found at tight junctions Tight junctions form barriers that control the passage of ions and molecules across an epithelial sheet and the movement of proteins and lipids between apical and basolateral domains of epithelial cells Lee et al 2006 supplied by OMIM 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000164007 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000066058 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 a b Entrez Gene CLDN19 claudin 19 Naeem M Hussain S Akhtar N 2011 Mutation in the Tight Junction Gene Claudin 19 CLDN19 and Familial Hypomagnesemia Hypercalciuria Nephrocalcinosis FHHNC and Severe Ocular Disease American Journal of Nephrology 34 3 241 248 doi 10 1159 000330854 PMID 21791920 Konrad M Schaller A Seelow D Pandey AV Waldegger S Lesslauer A Vitzthum H Suzuki Y Luk JM Becker C Schlingmann KP Schmid M Rodriguez Soriano J Ariceta G Cano F Enriquez R Juppner H Bakkaloglu SA Hediger MA Gallati S Neuhauss SC Nurnberg P Weber S 2006 Mutations in the Tight Junction Gene Claudin 19 CLDN19 Are Associated with Renal Magnesium Wasting Renal Failure and Severe Ocular Involvement The American Journal of Human Genetics 79 5 949 957 doi 10 1086 508617 PMC 1698561 PMID 17033971 External links editHuman CLDN19 genome location and CLDN19 gene details page in the UCSC Genome Browser Further reading editKniesel U Wolburg H 2000 Tight junctions of the blood brain barrier Cell Mol Neurobiol 20 1 57 76 doi 10 1023 A 1006995910836 PMID 10690502 S2CID 26473781 Heiskala M Peterson PA Yang Y 2001 The roles of claudin superfamily proteins in paracellular transport Traffic 2 2 93 8 doi 10 1034 j 1600 0854 2001 020203 x PMID 11247307 S2CID 12132159 Tsukita S Furuse M Itoh M 2001 Multifunctional strands in tight junctions Nat Rev Mol Cell Biol 2 4 285 93 doi 10 1038 35067088 PMID 11283726 S2CID 36524601 Tsukita S Furuse M 2003 Claudin based barrier in simple and stratified cellular sheets Curr Opin Cell Biol 14 5 531 6 doi 10 1016 S0955 0674 02 00362 9 PMID 12231346 Gonzalez Mariscal L Betanzos A Nava P Jaramillo BE 2003 Tight junction proteins Prog Biophys Mol Biol 81 1 1 44 doi 10 1016 S0079 6107 02 00037 8 PMID 12475568 Strausberg RL Feingold EA Grouse LH et al 2003 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 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Ota T Suzuki Y Nishikawa T et al 2004 Complete sequencing and characterization of 21 243 full length human cDNAs Nat Genet 36 1 40 5 doi 10 1038 ng1285 PMID 14702039 Gerhard DS Wagner L Feingold EA et al 2004 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 10B 2121 7 doi 10 1101 gr 2596504 PMC 528928 PMID 15489334 Lee NP Tong MK Leung PP et al 2006 Kidney claudin 19 localization in distal tubules and collecting ducts and dysregulation in polycystic renal disease FEBS Lett 580 3 923 31 doi 10 1016 j febslet 2006 01 019 PMID 16427635 S2CID 21297265 Konrad M Schaller A Seelow D et al 2006 Mutations in the tight junction gene claudin 19 CLDN19 are associated with renal magnesium wasting renal failure and severe ocular involvement Am J Hum Genet 79 5 949 57 doi 10 1086 508617 PMC 1698561 PMID 17033971 Liu F Koval M Ranganathan S Fanayan S Hancock WS Lundberg EK Beavis RC Lane L Duek P McQuade L Kelleher NL Baker MS 2015 A systems proteomics view of the endogenous human claudin protein family J Proteome Res 15 2 339 359 doi 10 1021 acs jproteome 5b00769 PMC 4777318 PMID 26680015 nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title CLDN19 amp oldid 1194304894, wikipedia, wiki, book, books, library,
