CLDN14
Klaudin-14 jest protein koji je kod ljudi kodiran genom CLDN14 sa hromosoma 21.[5][6] Pripada porodici srodnih proteina zvanih klaudini.
Aminokiselinska sekvenca
Dužina polipeptidnog lanca je 239 aminokiselina, a molekulska težina 25.699 Da.[6]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MASTAVQLLG | FLLSFLGMVG | TLITTILPHW | RRTAHVGTNI | LTAVSYLKGL | ||||
| WMECVWHSTG | IYQCQIYRSL | LALPQDLQAA | RALMVISCLL | SGIACACAVI | ||||
| GMKCTRCAKG | TPAKTTFAIL | GGTLFILAGL | LCMVAVSWTT | NDVVQNFYNP | ||||
| LLPSGMKFEI | GQALYLGFIS | SSLSLIGGTL | LCLSCQDEAP | YRPYQAPPRA | ||||
| TTTTANTAPA | YQPPAAYKDN | RAPSVTSATH | SGYRLNDYV |
Funkcija
Protein kojeg kodira CLDN14 je integralni membranski protein i komponenta čvrstih spojeva, jednog oblika međućelijske adhezije u epitelu ili endotelnim ćelijskim listovima. Čvrsti spojevi formiraju neprekidne brtve oko ćelija i služe kao fizička barijera koja sprečava otopljene tvari i vodu da slobodno prolaze kroz paraćelijski prostor.
Ovi spojevi sastoje se od skupova kontinuiranih umreženih proteinskih lanaca na vanjskoj površini ćelijske membrane, s komplementarnim žljebovima u vancitoplazmatskom panelu okrenutom prema unutra. Protein CLDN14 se također vezuje za WW-domenski Yes-vezani protein.
Defekti u CLDN14 uzrok su autosomno recesivnog oblika nesindromske senzornrvne gluhoće. Za ovaj gen su pronađene dvije varijante transkripta koje kodiraju isti protein.[6]
Postoje i sugestije da CLDN14 ima ulogu u tumorskoj angiogenezi (formiranju krvnih sudova),[7] jer delecija jedne kopije ovog gena dovodi do defekta uskih spojeva i propuštanja krvnih sudova u modelu miša.
Reference
- ^ a b c GRCh38: Ensembl release 89: ENSG00000159261 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047109 - Ensembl, maj 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.
- ^ Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB (Feb 2001). "Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29". Cell. 104 (1): 165–72. doi:10.1016/S0092-8674(01)00200-8. PMID 11163249. S2CID 6346705.
- ^ a b c "Entrez Gene: CLDN14 claudin 14".
- ^ Baker M, Reynolds LE, Robinson SD, Lees DM, Parsons M, Elia G, et al. (2013). "Stromal Claudin14-Heterozygosity, but Not Deletion, Increases Tumour Blood Leakage without Affecting Tumour Growth". PLOS ONE. 8 (5): e62516. Bibcode:2013PLoSO...862516B. doi:10.1371/journal.pone.0062516. PMC 3652830. PMID 23675413.
Dopunska literatura
- 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.
- Chen HI, Sudol M (1995). "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. Bibcode:1995PNAS...92.7819C. doi:10.1073/pnas.92.17.7819. PMC 41237. PMID 7644498.
- Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Uyguner O, Emiroglu M, Uzumcu A, et al. (2004). "Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss". Clin. Genet. 64 (1): 65–9. doi:10.1034/j.1399-0004.2003.00101.x. PMID 12791041. S2CID 29823828.
- Clark HF, Gurney AL, Abaya E, et al. (2003). "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. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
- 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.
- Van Itallie CM, Gambling TM, Carson JL, Anderson JM (2005). "Palmitoylation of claudins is required for efficient tight-junction localization". J. Cell Sci. 118 (Pt 7): 1427–36. doi:10.1242/jcs.01735. PMID 15769849.
- Wattenhofer M, Reymond A, Falciola V, et al. (2006). "Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro". Hum. Mutat. 25 (6): 543–9. doi:10.1002/humu.20172. PMID 15880785. S2CID 27476200.
- Hu YH, Warnatz HJ, Vanhecke D, et al. (2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics. 7: 155. doi:10.1186/1471-2164-7-155. PMC 1526728. PMID 16780588.
- 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.[mrtav link]
- Sticky cells, blood vessels and cancer – the paradox of Claudin-14 Arhivirano 23. 4. 2021. na Wayback Machine - Marianne Baker, Cancer Research UK Science Update blog, 14 June 2013
Vanjski linkovi
- Lokacija ljudskog genoma CLDN14 i stranica sa detaljima o genu CLDN14 u UCSC Genome Browseru.
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