CLD14_HUMAN
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 03-AUG-2022, entry version 180.
DE RecName: Full=Claudin-14;
GN Name=CLDN14; ORFNames=UNQ777/PRO1571;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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., Ploplis B.,
RA Belyantseva I., Ben-Yosef T., Liburd N.A., Morell R.J., Kachar B., Wu D.K.,
RA Griffith A.J., Riazuddin S., Friedman T.B.;
RT "Mutations in the gene encoding tight junction claudin-14 cause autosomal
RT 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., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT 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., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., 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 project:
RT 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 with
RT 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 non-
RT 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 loss in
RT the Pakistani population.";
RL J. Hum. Genet. 58:102-108(2013).
CC -!- FUNCTION: Plays a major role in tight junction-specific obliteration of
CC the intercellular space, through calcium-independent cell-adhesion
CC activity. {ECO:0000250}.
CC -!- INTERACTION:
CC O95500; Q4LDR2: CTXN3; NbExp=3; IntAct=EBI-11742599, EBI-12019274;
CC O95500; P21145: MAL; NbExp=3; IntAct=EBI-11742599, EBI-3932027;
CC O95500; Q9Y342: PLLP; NbExp=3; IntAct=EBI-11742599, EBI-3919291;
CC -!- SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane;
CC Multi-pass membrane protein.
CC -!- TISSUE SPECIFICITY: Liver, kidney. Also found in ear.
CC -!- DISEASE: Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]: A
CC form of non-syndromic sensorineural hearing loss. Sensorineural
CC deafness results from damage to the neural receptors of the inner ear,
CC the nerve pathways to the brain, or the area of the brain that receives
CC sound information. {ECO:0000269|PubMed:11163249,
CC ECO:0000269|PubMed:22246673, ECO:0000269|PubMed:23235333}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the claudin family. {ECO:0000305}.
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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 AlphaFoldDB; O95500; -.
DR SMR; O95500; -.
DR BioGRID; 117105; 17.
DR IntAct; O95500; 4.
DR STRING; 9606.ENSP00000382090; -.
DR GlyGen; O95500; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; O95500; -.
DR PhosphoSitePlus; O95500; -.
DR SwissPalm; O95500; -.
DR BioMuta; CLDN14; -.
DR MassIVE; O95500; -.
DR PaxDb; O95500; -.
DR PeptideAtlas; O95500; -.
DR PRIDE; O95500; -.
DR ProteomicsDB; 50930; -.
DR Antibodypedia; 23104; 258 antibodies from 32 providers.
DR DNASU; 23562; -.
DR Ensembl; ENST00000342108.2; ENSP00000339292.2; ENSG00000159261.12.
DR Ensembl; ENST00000399135.6; ENSP00000382087.1; ENSG00000159261.12.
DR Ensembl; ENST00000399136.5; ENSP00000382088.1; ENSG00000159261.12.
DR Ensembl; ENST00000399137.5; ENSP00000382090.1; ENSG00000159261.12.
DR Ensembl; ENST00000399139.5; ENSP00000382092.1; ENSG00000159261.12.
DR GeneID; 23562; -.
DR KEGG; hsa:23562; -.
DR MANE-Select; ENST00000399135.6; ENSP00000382087.1; NM_001146079.2; NP_001139551.1.
DR UCSC; uc002yvk.3; human.
DR CTD; 23562; -.
DR DisGeNET; 23562; -.
DR GeneCards; CLDN14; -.
DR GeneReviews; CLDN14; -.
DR HGNC; HGNC:2035; CLDN14.
DR HPA; ENSG00000159261; Tissue enriched (liver).
DR MalaCards; CLDN14; -.
DR MIM; 605608; gene.
DR MIM; 614035; phenotype.
DR neXtProt; NX_O95500; -.
DR OpenTargets; ENSG00000159261; -.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR PharmGKB; PA26561; -.
DR VEuPathDB; HostDB:ENSG00000159261; -.
DR eggNOG; ENOG502QR8Z; Eukaryota.
DR GeneTree; ENSGT00940000161312; -.
DR HOGENOM; CLU_076370_1_1_1; -.
DR InParanoid; O95500; -.
DR OMA; PTAYKDN; -.
DR OrthoDB; 1309858at2759; -.
DR PhylomeDB; O95500; -.
DR TreeFam; TF331936; -.
DR PathwayCommons; O95500; -.
DR Reactome; R-HSA-420029; Tight junction interactions.
DR SignaLink; O95500; -.
DR BioGRID-ORCS; 23562; 12 hits in 1070 CRISPR screens.
DR GeneWiki; CLDN14; -.
DR GenomeRNAi; 23562; -.
DR Pharos; O95500; Tbio.
DR PRO; PR:O95500; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; O95500; protein.
DR Bgee; ENSG00000159261; Expressed in right lobe of liver and 61 other tissues.
DR Genevisible; O95500; HS.
DR GO; GO:0005923; C:bicellular tight junction; ISS:UniProtKB.
DR GO; GO:0005783; C:endoplasmic reticulum; HDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; HDA:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; ISS:UniProtKB.
DR GO; GO:0005198; F:structural molecule activity; IEA:InterPro.
DR GO; GO:0070830; P:bicellular tight junction assembly; IBA:GO_Central.
DR GO; GO:0016338; P:calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules; ISS:UniProtKB.
DR GO; GO:0007155; P:cell adhesion; IBA:GO_Central.
DR GO; GO:0065003; P:protein-containing 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; Deafness; Disease variant; Membrane;
KW Non-syndromic deafness; Reference proteome; Tight junction; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..239
FT /note="Claudin-14"
FT /id="PRO_0000144769"
FT TOPO_DOM 1..7
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 8..28
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 29..81
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 82..102
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 103..115
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 116..136
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 137..162
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 163..183
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 184..239
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 196..228
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 4
FT /note="T -> M (in dbSNP:rs113831133)"
FT /evidence="ECO:0000269|PubMed:12791041,
FT ECO:0000269|PubMed:23590985"
FT /id="VAR_017227"
FT VARIANT 81
FT /note="R -> H (in DFNB29; dbSNP:rs368027306)"
FT /evidence="ECO:0000269|PubMed:22246673,
FT ECO:0000269|PubMed:23235333"
FT /id="VAR_069979"
FT VARIANT 85
FT /note="V -> D (in DFNB29; dbSNP:rs74315437)"
FT /evidence="ECO:0000269|PubMed:11163249,
FT ECO:0000269|PubMed:22246673, ECO:0000269|PubMed:23235333"
FT /id="VAR_010738"
FT VARIANT 86
FT /note="I -> V"
FT /evidence="ECO:0000269|PubMed:23235333"
FT /id="VAR_069980"
FT VARIANT 87
FT /note="S -> I (in DFNB29)"
FT /evidence="ECO:0000269|PubMed:23235333"
FT /id="VAR_069981"
FT VARIANT 94
FT /note="A -> V (in DFNB29)"
FT /evidence="ECO:0000269|PubMed:23235333"
FT /id="VAR_069982"
FT VARIANT 232
FT /note="G -> R (in DFNB29; dbSNP:rs786204841)"
FT /evidence="ECO:0000269|PubMed:22246673"
FT /id="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
