ID CLD14_HUMAN STANDARD; PRT; 239 AA. AC O95500; DT 30-MAY-2000 (Rel. 39, Created) DT 30-MAY-2000 (Rel. 39, Last sequence update) DT 01-FEB-2005 (Rel. 46, Last annotation update) DE Claudin-14 (UNQ777/PRO1571). GN Name=CLDN14; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE. RA Keen T.J., Inglehearn C.F.; RL Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE, AND VARIANT DFNB29 ASP-85. RC TISSUE=Liver; RX MEDLINE=21097730; PubMed=11163249; DOI=10.1016/S0092-8674(01)00200-8; RA Wilcox E.R., Burton Q.L., Naz S., Riazuddin S., Smith T.N., RA Ploplis B., Belyantseva I., Ben-Yosef T., Liburd N.A., Morell R.J., RA Kachar B., Wu D.K., Griffith A.J., Riazuddin S., Friedman T.B.; RT "Mutations in the gene encoding tight junction claudin-14 cause RT autosomal recessive deafness DFNB29."; RL Cell 104:165-172(2001). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RX MEDLINE=22887296; PubMed=12975309; DOI=10.1101/gr.1293003; RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., RA Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., RA Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., RA Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., RA Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., RA Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., RA Wood W.I., Godowski P.J., Gray A.M.; RT "The secreted protein discovery initiative (SPDI), a large-scale RT effort to identify novel human secreted and transmembrane proteins: a RT bioinformatics assessment."; RL Genome Res. 13:2265-2270(2003). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX MEDLINE=20289799; PubMed=10830953; DOI=10.1038/35012518; RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., RA Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Soeda E., RA Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., RA Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., RA Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., RA Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., RA Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., RA Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., RA Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., RA Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., RA Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., RA Lehrach H., Reinhardt R., Yaspo M.-L.; RT "The DNA sequence of human chromosome 21."; RL Nature 405:311-319(2000). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Skin; RX MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899; RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G., RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D., RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K., RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F., RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L., RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E., RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C., RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J., RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H., RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W., RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A., RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G., RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C., RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E., RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.; RT "Generation and initial analysis of more than 15,000 full-length human RT and mouse cDNA sequences."; RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002). RN [6] RP VARIANT MET-4. RX MEDLINE=22675606; PubMed=12791041; RA Uyguner O., Emiroglu M., Uzumcu A., Hafiz G., Ghanbari A., Baserer N., RA Yuksel-Apak M., Wollnik B.; RT "Frequencies of gap- and tight-junction mutations in Turkish families RT with autosomal-recessive non-syndromic hearing loss."; RL Clin. Genet. 64:65-69(2003). CC -!- FUNCTION: Component of tight junction (TJ) strands. CC -!- SUBCELLULAR LOCATION: Integral membrane protein. CC -!- TISSUE SPECIFICITY: Liver, kidney. Also found in ear. CC -!- DISEASE: Defects in CLDN14 are the cause of an autosomal recessive CC form of nonsyndromic sensorineural deafness (DFNB29) [MIM:605608]. CC -!- SIMILARITY: Belongs to the claudin family. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AJ132445; CAA10669.1; -. DR EMBL; AF314090; AAG60052.1; -. DR EMBL; AY358533; AAQ88897.1; -. DR EMBL; AP001726; BAA95509.1; -. DR EMBL; BC012126; AAH12126.1; -. DR Ensembl; ENSG00000159261; Homo sapiens. DR Genew; HGNC:2035; CLDN14. DR H-InvDB; HIX0016104; -. DR MIM; 605608; -. DR GO; GO:0006461; P:protein complex assembly; TAS. DR InterPro; IPR006187; Claudin. DR InterPro; IPR006188; Claudin_reg. DR InterPro; IPR004031; PMP22_Claudin. DR Pfam; PF00822; PMP22_Claudin; 1. DR PRINTS; PR01077; CLAUDIN. DR PROSITE; PS01346; CLAUDIN; 1. KW Deafness; Disease mutation; Polymorphism; Tight junction; KW Transmembrane. FT TRANSMEM 8 28 Potential. FT TRANSMEM 82 102 Potential. FT TRANSMEM 116 136 Potential. FT TRANSMEM 163 183 Potential. FT VARIANT 4 4 T -> M. FT /FTId=VAR_017227. FT VARIANT 85 85 V -> D (in DFNB29). FT /FTId=VAR_010738. SQ SEQUENCE 239 AA; 25699 MW; DD41652F7FD0E09A CRC64; MASTAVQLLG FLLSFLGMVG TLITTILPHW RRTAHVGTNI LTAVSYLKGL WMECVWHSTG IYQCQIYRSL LALPQDLQAA RALMVISCLL SGIACACAVI GMKCTRCAKG TPAKTTFAIL GGTLFILAGL LCMVAVSWTT NDVVQNFYNP LLPSGMKFEI GQALYLGFIS SSLSLIGGTL LCLSCQDEAP YRPYQAPPRA TTTTANTAPA YQPPAAYKDN RAPSVTSATH SGYRLNDYV //