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O95500

- CLD14_HUMAN

UniProt

O95500 - CLD14_HUMAN

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Protein

Claudin-14

Gene

CLDN14

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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 non-syndromic 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

BioGridi117105. 1 interaction.
STRINGi9606.ENSP00000339292.

Structurei

3D structure databases

ProteinModelPortaliO95500.
SMRiO95500. Positions 1-187.
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.
GeneTreeiENSGT00760000118928.
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.
PTHR12002:SF82. PTHR12002:SF82. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01077. CLAUDIN.
PROSITEiPS01346. CLAUDIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O95500 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MASTAVQLLG FLLSFLGMVG TLITTILPHW RRTAHVGTNI LTAVSYLKGL
60 70 80 90 100
WMECVWHSTG IYQCQIYRSL LALPQDLQAA RALMVISCLL SGIACACAVI
110 120 130 140 150
GMKCTRCAKG TPAKTTFAIL GGTLFILAGL LCMVAVSWTT NDVVQNFYNP
160 170 180 190 200
LLPSGMKFEI GQALYLGFIS SSLSLIGGTL LCLSCQDEAP YRPYQAPPRA
210 220 230
TTTTANTAPA YQPPAAYKDN RAPSVTSATH SGYRLNDYV
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.
SMRi O95500. Positions 1-187.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117105. 1 interaction.
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 non-syndromic sensorineural deafness type DFNB.
PharmGKBi PA26561.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41985.
GeneTreei ENSGT00760000118928.
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.
PTHR12002:SF82. PTHR12002:SF82. 1 hit.
Pfami PF00822. PMP22_Claudin. 1 hit.
[Graphical view ]
PRINTSi PR01077. CLAUDIN.
PROSITEi PS01346. CLAUDIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 132 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