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O95500 (CLD14_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Claudin-14
Gene names
Name:CLDN14
ORF Names:UNQ777/PRO1571
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length239 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity By similarity.

Subcellular location

Cell junctiontight junction. Cell membrane; Multi-pass membrane protein.

Tissue specificity

Liver, kidney. Also found in ear.

Involvement in disease

Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.8 Ref.10

Sequence similarities

Belongs to the claudin family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 239239Claudin-14
PRO_0000144769

Regions

Topological domain1 – 77Cytoplasmic Potential
Transmembrane8 – 2821Helical; Potential
Topological domain29 – 8153Extracellular Potential
Transmembrane82 – 10221Helical; Potential
Topological domain103 – 11513Cytoplasmic Potential
Transmembrane116 – 13621Helical; Potential
Topological domain137 – 16226Extracellular Potential
Transmembrane163 – 18321Helical; Potential
Topological domain184 – 23956Cytoplasmic Potential

Natural variations

Natural variant41T → M. Ref.7 Ref.9
Corresponds to variant rs113831133 [ dbSNP | Ensembl ].
VAR_017227
Natural variant811R → H in DFNB29. Ref.8 Ref.10
VAR_069979
Natural variant851V → D in DFNB29. Ref.2 Ref.8 Ref.10
VAR_010738
Natural variant861I → V. Ref.10
VAR_069980
Natural variant871S → I in DFNB29. Ref.10
VAR_069981
Natural variant941A → V in DFNB29. Ref.10
VAR_069982
Natural variant2321G → R in DFNB29. Ref.8
VAR_069983

Sequences

Sequence LengthMass (Da)Tools
O95500 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: DD41652F7FD0E09A

FASTA23925,699
        10         20         30         40         50         60 
MASTAVQLLG FLLSFLGMVG TLITTILPHW RRTAHVGTNI LTAVSYLKGL WMECVWHSTG 

        70         80         90        100        110        120 
IYQCQIYRSL LALPQDLQAA RALMVISCLL SGIACACAVI GMKCTRCAKG TPAKTTFAIL 

       130        140        150        160        170        180 
GGTLFILAGL LCMVAVSWTT NDVVQNFYNP LLPSGMKFEI GQALYLGFIS SSLSLIGGTL 

       190        200        210        220        230 
LCLSCQDEAP YRPYQAPPRA TTTTANTAPA YQPPAAYKDN RAPSVTSATH SGYRLNDYV 

« Hide

References

« Hide 'large scale' references
[1]Keen T.J., Inglehearn C.F.
Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29."
Wilcox E.R., Burton Q.L., Naz S., Riazuddin S., Smith T.N., Ploplis B., Belyantseva I., Ben-Yosef T., Liburd N.A., Morell R.J., Kachar B., Wu D.K., Griffith A.J., Riazuddin S., Friedman T.B.
Cell 104:165-172(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT DFNB29 ASP-85.
Tissue: Liver.
[3]"Claudin 14 and deafness."
Wattenhofer M., Falciola V., Charollais A., Caille D., Borel C., Estivill X., Petersen M.B., Antonarakis S.E., Meda P., Reymond A.
Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Placenta and Testis.
[4]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]"The DNA sequence of human chromosome 21."
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. expand/collapse author list , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Skin.
[7]"Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss."
Uyguner O., Emiroglu M., Uzumcu A., Hafiz G., Ghanbari A., Baserer N., Yuksel-Apak M., Wollnik B.
Clin. Genet. 64:65-69(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-4.
[8]"Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss."
Lee K., Ansar M., Andrade P.B., Khan B., Santos-Cortez R.L., Ahmad W., Leal S.M.
Am. J. Med. Genet. A 158:315-321(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB29 HIS-81; ASP-85 AND ARG-232.
[9]"Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss."
Charif M., Bakhchane A., Abidi O., Boulouiz R., Eloualid A., Roky R., Rouba H., Kandil M., Lenaers G., Barakat A.
Gene 523:103-105(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MET-4.
[10]"Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population."
Bashir Z.E., Latief N., Belyantseva I.A., Iqbal F., Amer Riazuddin S., Khan S.N., Friedman T.B., Riazuddin S., Riazuddin S.
J. Hum. Genet. 58:102-108(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB29 HIS-81; ASP-85; ILE-87 AND VAL-94, VARIANT VAL-86.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ132445 Genomic DNA. Translation: CAA10669.1.
AF314090 mRNA. Translation: AAG60052.1.
AY355348 mRNA. Translation: AAR05858.1.
AY355349 mRNA. Translation: AAR05859.1.
AJ566765 mRNA. Translation: CAD97762.1.
AJ566766 mRNA. Translation: CAD97763.1.
AY358533 mRNA. Translation: AAQ88897.1.
AP001726 Genomic DNA. Translation: BAA95509.1.
BC012126 mRNA. Translation: AAH12126.1.
RefSeqNP_001139549.1. NM_001146077.1.
NP_001139550.1. NM_001146078.2.
NP_001139551.1. NM_001146079.1.
NP_036262.1. NM_012130.3.
NP_652763.1. NM_144492.2.
UniGeneHs.660278.
Hs.741857.

3D structure databases

ProteinModelPortalO95500.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000339292.

PTM databases

PhosphoSiteO95500.

Proteomic databases

PaxDbO95500.
PRIDEO95500.

Protocols and materials databases

DNASU23562.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000342108; ENSP00000339292; ENSG00000159261.
ENST00000399135; ENSP00000382087; ENSG00000159261.
ENST00000399136; ENSP00000382088; ENSG00000159261.
ENST00000399137; ENSP00000382090; ENSG00000159261.
ENST00000399139; ENSP00000382092; ENSG00000159261.
GeneID23562.
KEGGhsa:23562.
UCSCuc002yvk.2. human.

Organism-specific databases

CTD23562.
GeneCardsGC21M037832.
HGNCHGNC:2035. CLDN14.
MIM605608. gene.
614035. phenotype.
neXtProtNX_O95500.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBPA26561.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41985.
HOGENOMHOG000220937.
HOVERGENHBG000643.
InParanoidO95500.
KOK06087.
OMACACAVVG.
OrthoDBEOG76HQ2T.
PhylomeDBO95500.
TreeFamTF331936.

Enzyme and pathway databases

ReactomeREACT_111155. Cell-Cell communication.

Gene expression databases

BgeeO95500.
CleanExHS_CLDN14.
GenevestigatorO95500.

Family and domain databases

InterProIPR006187. Claudin.
IPR003556. Claudin14.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERPTHR12002. PTHR12002. 1 hit.
PfamPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSPR01077. CLAUDIN.
PR01385. CLAUDIN14.
PROSITEPS01346. CLAUDIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCLDN14.
GenomeRNAi23562.
NextBio46146.
PROO95500.
SOURCESearch...

Entry information

Entry nameCLD14_HUMAN
AccessionPrimary (citable) accession number: O95500
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: April 16, 2014
This is version 128 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM