Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O95500

- CLD14_HUMAN

UniProt

O95500 - CLD14_HUMAN

Protein

Claudin-14

Gene

CLDN14

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

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

    GO - Molecular functioni

    1. identical protein binding Source: UniProtKB
    2. structural molecule activity Source: InterPro

    GO - Biological processi

    1. calcium-independent cell-cell adhesion Source: UniProtKB
    2. cell-cell junction organization Source: Reactome
    3. cell junction assembly Source: Reactome
    4. protein complex assembly Source: ProtInc
    5. tight junction assembly Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_19373. Tight junction interactions.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Claudin-14
    Gene namesi
    Name:CLDN14
    ORF Names:UNQ777/PRO1571
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:2035. CLDN14.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. integral component of membrane Source: UniProtKB-KW
    3. plasma membrane Source: UniProtKB
    4. tight junction Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane, Tight junction

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti81 – 811R → H in DFNB29. 2 Publications
    VAR_069979
    Natural varianti85 – 851V → D in DFNB29. 3 Publications
    VAR_010738
    Natural varianti87 – 871S → I in DFNB29. 1 Publication
    VAR_069981
    Natural varianti94 – 941A → V in DFNB29. 1 Publication
    VAR_069982
    Natural varianti232 – 2321G → R in DFNB29. 1 Publication
    VAR_069983

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness

    Organism-specific databases

    MIMi614035. phenotype.
    Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBiPA26561.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 239239Claudin-14PRO_0000144769Add
    BLAST

    Proteomic databases

    PaxDbiO95500.
    PRIDEiO95500.

    PTM databases

    PhosphoSiteiO95500.

    Expressioni

    Tissue specificityi

    Liver, kidney. Also found in ear.

    Gene expression databases

    BgeeiO95500.
    CleanExiHS_CLDN14.
    GenevestigatoriO95500.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000339292.

    Structurei

    3D structure databases

    ProteinModelPortaliO95500.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicSequence Analysis
    Topological domaini29 – 8153ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini103 – 11513CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini137 – 16226ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini184 – 23956CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei82 – 10221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei116 – 13621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei163 – 18321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the claudin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG41985.
    HOGENOMiHOG000220937.
    HOVERGENiHBG000643.
    InParanoidiO95500.
    KOiK06087.
    OMAiCACAVVG.
    OrthoDBiEOG76HQ2T.
    PhylomeDBiO95500.
    TreeFamiTF331936.

    Family and domain databases

    InterProiIPR006187. Claudin.
    IPR003556. Claudin14.
    IPR017974. Claudin_CS.
    IPR004031. PMP22/EMP/MP20/Claudin.
    [Graphical view]
    PANTHERiPTHR12002. PTHR12002. 1 hit.
    PfamiPF00822. PMP22_Claudin. 1 hit.
    [Graphical view]
    PRINTSiPR01077. CLAUDIN.
    PR01385. CLAUDIN14.
    PROSITEiPS01346. CLAUDIN. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O95500-1 [UniParc]FASTAAdd to Basket

    « Hide

    MASTAVQLLG FLLSFLGMVG TLITTILPHW RRTAHVGTNI LTAVSYLKGL    50
    WMECVWHSTG IYQCQIYRSL LALPQDLQAA RALMVISCLL SGIACACAVI 100
    GMKCTRCAKG TPAKTTFAIL GGTLFILAGL LCMVAVSWTT NDVVQNFYNP 150
    LLPSGMKFEI GQALYLGFIS SSLSLIGGTL LCLSCQDEAP YRPYQAPPRA 200
    TTTTANTAPA YQPPAAYKDN RAPSVTSATH SGYRLNDYV 239
    Length:239
    Mass (Da):25,699
    Last modified:May 1, 1999 - v1
    Checksum:iDD41652F7FD0E09A
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti4 – 41T → M.2 Publications
    Corresponds to variant rs113831133 [ dbSNP | Ensembl ].
    VAR_017227
    Natural varianti81 – 811R → H in DFNB29. 2 Publications
    VAR_069979
    Natural varianti85 – 851V → D in DFNB29. 3 Publications
    VAR_010738
    Natural varianti86 – 861I → V.1 Publication
    VAR_069980
    Natural varianti87 – 871S → I in DFNB29. 1 Publication
    VAR_069981
    Natural varianti94 – 941A → V in DFNB29. 1 Publication
    VAR_069982
    Natural varianti232 – 2321G → R in DFNB29. 1 Publication
    VAR_069983

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS13645.1.
    RefSeqiNP_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.
    UniGeneiHs.660278.
    Hs.741857.

    Genome annotation databases

    EnsembliENST00000342108; ENSP00000339292; ENSG00000159261.
    ENST00000399135; ENSP00000382087; ENSG00000159261.
    ENST00000399136; ENSP00000382088; ENSG00000159261.
    ENST00000399137; ENSP00000382090; ENSG00000159261.
    ENST00000399139; ENSP00000382092; ENSG00000159261.
    GeneIDi23562.
    KEGGihsa:23562.
    UCSCiuc002yvk.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS13645.1.
    RefSeqi NP_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.
    UniGenei Hs.660278.
    Hs.741857.

    3D structure databases

    ProteinModelPortali O95500.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000339292.

    PTM databases

    PhosphoSitei O95500.

    Proteomic databases

    PaxDbi O95500.
    PRIDEi O95500.

    Protocols and materials databases

    DNASUi 23562.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000342108 ; ENSP00000339292 ; ENSG00000159261 .
    ENST00000399135 ; ENSP00000382087 ; ENSG00000159261 .
    ENST00000399136 ; ENSP00000382088 ; ENSG00000159261 .
    ENST00000399137 ; ENSP00000382090 ; ENSG00000159261 .
    ENST00000399139 ; ENSP00000382092 ; ENSG00000159261 .
    GeneIDi 23562.
    KEGGi hsa:23562.
    UCSCi uc002yvk.2. human.

    Organism-specific databases

    CTDi 23562.
    GeneCardsi GC21M037832.
    GeneReviewsi CLDN14.
    HGNCi HGNC:2035. CLDN14.
    MIMi 605608. gene.
    614035. phenotype.
    neXtProti NX_O95500.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBi PA26561.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41985.
    HOGENOMi HOG000220937.
    HOVERGENi HBG000643.
    InParanoidi O95500.
    KOi K06087.
    OMAi CACAVVG.
    OrthoDBi EOG76HQ2T.
    PhylomeDBi O95500.
    TreeFami TF331936.

    Enzyme and pathway databases

    Reactomei REACT_19373. Tight junction interactions.

    Miscellaneous databases

    GeneWikii CLDN14.
    GenomeRNAii 23562.
    NextBioi 46146.
    PROi O95500.
    SOURCEi Search...

    Gene expression databases

    Bgeei O95500.
    CleanExi HS_CLDN14.
    Genevestigatori O95500.

    Family and domain databases

    InterProi IPR006187. Claudin.
    IPR003556. Claudin14.
    IPR017974. Claudin_CS.
    IPR004031. PMP22/EMP/MP20/Claudin.
    [Graphical view ]
    PANTHERi PTHR12002. PTHR12002. 1 hit.
    Pfami PF00822. PMP22_Claudin. 1 hit.
    [Graphical view ]
    PRINTSi PR01077. CLAUDIN.
    PR01385. CLAUDIN14.
    PROSITEi PS01346. CLAUDIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Keen T.J., Inglehearn C.F.
      Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. 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. 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.
      , 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.

    Entry informationi

    Entry nameiCLD14_HUMAN
    AccessioniPrimary (citable) accession number: O95500
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 131 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 21
      Human chromosome 21: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3