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 05-OCT-2016, entry version 147. 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 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 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 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 PubMed=12791041; 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). RN [8] RP VARIANTS DFNB29 HIS-81; ASP-85 AND ARG-232. RX PubMed=22246673; DOI=10.1002/ajmg.a.34407; RA Lee K., Ansar M., Andrade P.B., Khan B., Santos-Cortez R.L., Ahmad W., RA Leal S.M.; RT "Novel CLDN14 mutations in Pakistani families with autosomal recessive RT non-syndromic hearing loss."; RL Am. J. Med. Genet. A 158:315-321(2012). RN [9] RP VARIANT MET-4. RX PubMed=23590985; DOI=10.1016/j.gene.2013.03.123; RA Charif M., Bakhchane A., Abidi O., Boulouiz R., Eloualid A., Roky R., RA Rouba H., Kandil M., Lenaers G., Barakat A.; RT "Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic RT hearing loss."; RL Gene 523:103-105(2013). RN [10] RP VARIANTS DFNB29 HIS-81; ASP-85; ILE-87 AND VAL-94, AND VARIANT VAL-86. RX PubMed=23235333; DOI=10.1038/jhg.2012.143; RA Bashir Z.E., Latief N., Belyantseva I.A., Iqbal F., Amer Riazuddin S., RA Khan S.N., Friedman T.B., Riazuddin S., Riazuddin S.; RT "Phenotypic variability of CLDN14 mutations causing DFNB29 hearing RT loss in the Pakistani population."; RL J. Hum. Genet. 58:102-108(2013). CC -!- FUNCTION: Plays a major role in tight junction-specific CC obliteration of the intercellular space, through calcium- CC independent cell-adhesion activity. {ECO:0000250}. 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: Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]: CC A form of non-syndromic sensorineural hearing loss. Sensorineural CC deafness results from damage to the neural receptors of the inner CC ear, the nerve pathways to the brain, or the area of the brain CC that receives sound information. {ECO:0000269|PubMed:11163249, CC ECO:0000269|PubMed:22246673, ECO:0000269|PubMed:23235333}. CC Note=The disease is caused by mutations affecting the gene CC represented in this entry. CC -!- SIMILARITY: Belongs to the claudin family. {ECO:0000305}. 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 CCDS; CCDS13645.1; -. DR RefSeq; NP_001139549.1; NM_001146077.1. DR RefSeq; NP_001139550.1; NM_001146078.2. DR RefSeq; NP_001139551.1; NM_001146079.1. DR RefSeq; NP_036262.1; NM_012130.3. DR RefSeq; NP_652763.1; NM_144492.2. DR UniGene; Hs.660278; -. DR UniGene; Hs.741857; -. DR ProteinModelPortal; O95500; -. DR SMR; O95500; 4-183. DR IntAct; O95500; 1. DR STRING; 9606.ENSP00000339292; -. DR iPTMnet; O95500; -. DR PhosphoSite; O95500; -. DR SwissPalm; O95500; -. DR BioMuta; CLDN14; -. DR EPD; O95500; -. DR PaxDb; O95500; -. DR PRIDE; O95500; -. DR DNASU; 23562; -. DR Ensembl; ENST00000342108; ENSP00000339292; ENSG00000159261. DR Ensembl; ENST00000399135; ENSP00000382087; ENSG00000159261. DR Ensembl; ENST00000399136; ENSP00000382088; ENSG00000159261. DR Ensembl; ENST00000399137; ENSP00000382090; ENSG00000159261. DR Ensembl; ENST00000399139; ENSP00000382092; ENSG00000159261. DR GeneID; 23562; -. DR KEGG; hsa:23562; -. DR UCSC; uc002yvk.3; human. DR CTD; 23562; -. DR GeneCards; CLDN14; -. DR GeneReviews; CLDN14; -. DR HGNC; HGNC:2035; CLDN14. DR MalaCards; CLDN14; -. DR MIM; 605608; gene. DR MIM; 614035; phenotype. DR neXtProt; NX_O95500; -. DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB. DR PharmGKB; PA26561; -. DR eggNOG; ENOG410IP71; Eukaryota. DR eggNOG; ENOG4111FCQ; LUCA. DR GeneTree; ENSGT00760000118928; -. DR HOGENOM; HOG000220937; -. DR HOVERGEN; HBG000643; -. DR InParanoid; O95500; -. DR KO; K06087; -. DR OMA; CACAVVG; -. DR OrthoDB; EOG091G0MX2; -. DR PhylomeDB; O95500; -. DR TreeFam; TF331936; -. DR Reactome; R-HSA-420029; Tight junction interactions. DR GeneWiki; CLDN14; -. DR GenomeRNAi; 23562; -. DR PRO; PR:O95500; -. DR Proteomes; UP000005640; Chromosome 21. DR Bgee; ENSG00000159261; -. DR CleanEx; HS_CLDN14; -. DR Genevisible; O95500; HS. DR GO; GO:0005923; C:bicellular tight junction; ISS:UniProtKB. DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB. DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW. DR GO; GO:0005886; C:plasma membrane; IDA: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 via plasma membrane cell-adhesion molecules; 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; PTHR12002; 1. DR PANTHER; PTHR12002:SF99; PTHR12002:SF99; 1. DR Pfam; PF00822; PMP22_Claudin; 1. 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; Polymorphism; KW Reference proteome; Tight junction; Transmembrane; KW Transmembrane helix. FT CHAIN 1 239 Claudin-14. FT /FTId=PRO_0000144769. FT TOPO_DOM 1 7 Cytoplasmic. {ECO:0000255}. FT TRANSMEM 8 28 Helical. {ECO:0000255}. FT TOPO_DOM 29 81 Extracellular. {ECO:0000255}. FT TRANSMEM 82 102 Helical. {ECO:0000255}. FT TOPO_DOM 103 115 Cytoplasmic. {ECO:0000255}. FT TRANSMEM 116 136 Helical. {ECO:0000255}. FT TOPO_DOM 137 162 Extracellular. {ECO:0000255}. FT TRANSMEM 163 183 Helical. {ECO:0000255}. FT TOPO_DOM 184 239 Cytoplasmic. {ECO:0000255}. FT VARIANT 4 4 T -> M (in dbSNP:rs113831133). FT {ECO:0000269|PubMed:12791041, FT ECO:0000269|PubMed:23590985}. FT /FTId=VAR_017227. FT VARIANT 81 81 R -> H (in DFNB29; dbSNP:rs368027306). FT {ECO:0000269|PubMed:22246673, FT ECO:0000269|PubMed:23235333}. FT /FTId=VAR_069979. FT VARIANT 85 85 V -> D (in DFNB29; dbSNP:rs74315437). FT {ECO:0000269|PubMed:11163249, FT ECO:0000269|PubMed:22246673, FT ECO:0000269|PubMed:23235333}. FT /FTId=VAR_010738. FT VARIANT 86 86 I -> V. {ECO:0000269|PubMed:23235333}. FT /FTId=VAR_069980. FT VARIANT 87 87 S -> I (in DFNB29). FT {ECO:0000269|PubMed:23235333}. FT /FTId=VAR_069981. FT VARIANT 94 94 A -> V (in DFNB29). FT {ECO:0000269|PubMed:23235333}. FT /FTId=VAR_069982. FT VARIANT 232 232 G -> R (in DFNB29; dbSNP:rs786204841). FT {ECO:0000269|PubMed:22246673}. FT /FTId=VAR_069983. 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 //