ID CLD14_HUMAN Reviewed; 239 AA. AC O95500; DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot. DT 01-MAY-1999, sequence version 1. DT 15-JUN-2010, entry version 95. DE RecName: Full=Claudin-14; GN Name=CLDN14; ORFNames=UNQ777/PRO1571; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RA Keen T.J., Inglehearn C.F.; RL Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [MRNA], 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 [MRNA]. RC TISSUE=Placenta, and Testis; RA Wattenhofer M., Falciola V., Charollais A., Caille D., Borel C., RA Estivill X., Petersen M.B., Antonarakis S.E., Meda P., Reymond A.; RT "Claudin 14 and deafness."; RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases. RN [4] 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 [5] 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., Groner Y., RA Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., RA Polley A., 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 [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Skin; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [7] RP VARIANT MET-4. RX MEDLINE=22675606; PubMed=12791041; RX DOI=10.1034/j.1399-0004.2003.00101.x; 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: Plays a major role in tight junction-specific CC obliteration of the intercellular space, through calcium- CC independent cell-adhesion activity (By similarity). CC -!- SUBCELLULAR LOCATION: Cell junction, tight junction. Cell CC membrane; Multi-pass membrane protein. CC -!- TISSUE SPECIFICITY: Liver, kidney. Also found in ear. CC -!- DISEASE: Defects in CLDN14 are the cause of deafness autosomal CC recessive type 29 (DFNB29) [MIM:605608]. DFNB29 is a form of CC sensorineural hearing loss. Sensorineural deafness results from CC damage to the neural receptors of the inner ear, the nerve CC pathways to the brain, or the area of the brain that receives CC sound information. 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; -; Genomic_DNA. DR EMBL; AF314090; AAG60052.1; -; mRNA. DR EMBL; AY355348; AAR05858.1; -; mRNA. DR EMBL; AY355349; AAR05859.1; -; mRNA. DR EMBL; AJ566765; CAD97762.1; -; mRNA. DR EMBL; AJ566766; CAD97763.1; -; mRNA. DR EMBL; AY358533; AAQ88897.1; -; mRNA. DR EMBL; AP001726; BAA95509.1; -; Genomic_DNA. DR EMBL; BC012126; AAH12126.1; -; mRNA. DR IPI; IPI00031288; -. DR RefSeq; NP_001139549.1; -. DR RefSeq; NP_001139550.1; -. DR RefSeq; NP_001139551.1; -. DR RefSeq; NP_036262.1; -. DR RefSeq; NP_652763.1; -. DR UniGene; Hs.660278; -. DR STRING; O95500; -. DR PhosphoSite; O95500; -. DR PRIDE; O95500; -. DR Ensembl; ENST00000342108; ENSP00000339292; ENSG00000159261; Homo sapiens. DR Ensembl; ENST00000399135; ENSP00000382087; ENSG00000159261; Homo sapiens. DR Ensembl; ENST00000399136; ENSP00000382088; ENSG00000159261; Homo sapiens. DR Ensembl; ENST00000399137; ENSP00000382090; ENSG00000159261; Homo sapiens. DR Ensembl; ENST00000399139; ENSP00000382092; ENSG00000159261; Homo sapiens. DR GeneID; 23562; -. DR KEGG; hsa:23562; -. DR UCSC; uc002yvk.1; human. DR CTD; 23562; -. DR GeneCards; GC21M036754; -. DR H-InvDB; HIX0016104; -. DR HGNC; HGNC:2035; CLDN14. DR MIM; 605608; gene+phenotype. DR Orphanet; 90636; Autosomal recessive nonsyndromic sensorineural deafness type DFNB. DR PharmGKB; PA26561; -. DR eggNOG; prNOG11993; -. DR HOGENOM; HBG716859; -. DR HOVERGEN; HBG000643; -. DR InParanoid; O95500; -. DR OMA; CACAVVG; -. DR OrthoDB; EOG95TG6B; -. DR PhylomeDB; O95500; -. DR Reactome; REACT_20676; Cell junction organization. DR NextBio; 46146; -. DR ArrayExpress; O95500; -. DR Bgee; O95500; -. DR CleanEx; HS_CLDN14; -. DR Genevestigator; O95500; -. DR GermOnline; ENSG00000159261; Homo sapiens. DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB. DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW. DR GO; GO:0005923; C:tight junction; ISS:UniProtKB. DR GO; GO:0042802; F:identical protein binding; ISS:UniProtKB. DR GO; GO:0005198; F:structural molecule activity; IEA:InterPro. DR GO; GO:0016338; P:calcium-independent cell-cell adhesion; ISS:UniProtKB. DR GO; GO:0006461; P:protein complex assembly; TAS:ProtInc. DR InterPro; IPR006187; Claudin. DR InterPro; IPR003556; Claudin14. DR InterPro; IPR017974; Claudin_CS. DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin. DR PANTHER; PTHR12002; Claudin; 1. DR Pfam; PF00822; PMP22_Claudin; 1. DR PRINTS; PR01077; CLAUDIN. DR PRINTS; PR01385; CLAUDIN14. DR PROSITE; PS01346; CLAUDIN; 1. PE 1: Evidence at protein level; KW Cell junction; Cell membrane; Complete proteome; Deafness; KW Disease mutation; Membrane; Non-syndromic deafness; Phosphoprotein; KW Polymorphism; Tight junction; Transmembrane. FT CHAIN 1 239 Claudin-14. FT /FTId=PRO_0000144769. FT TOPO_DOM 1 7 Cytoplasmic (Potential). FT TRANSMEM 8 28 Helical; (Potential). FT TOPO_DOM 29 81 Extracellular (Potential). FT TRANSMEM 82 102 Helical; (Potential). FT TOPO_DOM 103 115 Cytoplasmic (Potential). FT TRANSMEM 116 136 Helical; (Potential). FT TOPO_DOM 137 162 Extracellular (Potential). FT TRANSMEM 163 183 Helical; (Potential). FT TOPO_DOM 184 239 Cytoplasmic (Potential). FT MOD_RES 224 224 Phosphoserine (By similarity). FT MOD_RES 227 227 Phosphoserine (By similarity). FT MOD_RES 231 231 Phosphoserine (By similarity). 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 //