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Protein

Claudin-14

Gene

CLDN14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159261-MONOMER.
ReactomeiR-HSA-420029. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:2035. CLDN14.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Topological domaini29 – 81ExtracellularSequence analysisAdd BLAST53
Transmembranei82 – 102HelicalSequence analysisAdd BLAST21
Topological domaini103 – 115CytoplasmicSequence analysisAdd BLAST13
Transmembranei116 – 136HelicalSequence analysisAdd BLAST21
Topological domaini137 – 162ExtracellularSequence analysisAdd BLAST26
Transmembranei163 – 183HelicalSequence analysisAdd BLAST21
Topological domaini184 – 239CytoplasmicSequence analysisAdd BLAST56

GO - Cellular componenti

  • bicellular tight junction Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane 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)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614035
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06997981R → H in DFNB29. 2 PublicationsCorresponds to variant rs368027306dbSNPEnsembl.1
Natural variantiVAR_01073885V → D in DFNB29. 3 PublicationsCorresponds to variant rs74315437dbSNPEnsembl.1
Natural variantiVAR_06998187S → I in DFNB29. 1 Publication1
Natural variantiVAR_06998294A → V in DFNB29. 1 Publication1
Natural variantiVAR_069983232G → R in DFNB29. 1 PublicationCorresponds to variant rs786204841dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi23562.
MalaCardsiCLDN14.
MIMi614035. phenotype.
OpenTargetsiENSG00000159261.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA26561.

Polymorphism and mutation databases

BioMutaiCLDN14.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001447691 – 239Claudin-14Add BLAST239

Proteomic databases

EPDiO95500.
PaxDbiO95500.
PRIDEiO95500.

PTM databases

iPTMnetiO95500.
PhosphoSitePlusiO95500.
SwissPalmiO95500.

Expressioni

Tissue specificityi

Liver, kidney. Also found in ear.

Gene expression databases

BgeeiENSG00000159261.
CleanExiHS_CLDN14.
GenevisibleiO95500. HS.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

IntActiO95500. 1 interactor.
STRINGi9606.ENSP00000339292.

Structurei

3D structure databases

ProteinModelPortaliO95500.
SMRiO95500.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the claudin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IP71. Eukaryota.
ENOG4111FCQ. LUCA.
GeneTreeiENSGT00760000118928.
HOGENOMiHOG000220937.
HOVERGENiHBG000643.
InParanoidiO95500.
KOiK06087.
OMAiCACAVVG.
OrthoDBiEOG091G0MX2.
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:SF99. PTHR12002:SF99. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PROSITEiPS01346. CLAUDIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O95500-1 [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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0172274T → M.2 PublicationsCorresponds to variant rs113831133dbSNPEnsembl.1
Natural variantiVAR_06997981R → H in DFNB29. 2 PublicationsCorresponds to variant rs368027306dbSNPEnsembl.1
Natural variantiVAR_01073885V → D in DFNB29. 3 PublicationsCorresponds to variant rs74315437dbSNPEnsembl.1
Natural variantiVAR_06998086I → V.1 Publication1
Natural variantiVAR_06998187S → I in DFNB29. 1 Publication1
Natural variantiVAR_06998294A → V in DFNB29. 1 Publication1
Natural variantiVAR_069983232G → R in DFNB29. 1 PublicationCorresponds to variant rs786204841dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliO95500.
SMRiO95500.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiO95500. 1 interactor.
STRINGi9606.ENSP00000339292.

PTM databases

iPTMnetiO95500.
PhosphoSitePlusiO95500.
SwissPalmiO95500.

Polymorphism and mutation databases

BioMutaiCLDN14.

Proteomic databases

EPDiO95500.
PaxDbiO95500.
PRIDEiO95500.

Protocols and materials databases

DNASUi23562.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342108; ENSP00000339292; ENSG00000159261.
ENST00000399135; ENSP00000382087; ENSG00000159261.
ENST00000399136; ENSP00000382088; ENSG00000159261.
ENST00000399137; ENSP00000382090; ENSG00000159261.
ENST00000399139; ENSP00000382092; ENSG00000159261.
GeneIDi23562.
KEGGihsa:23562.
UCSCiuc002yvk.3. human.

Organism-specific databases

CTDi23562.
DisGeNETi23562.
GeneCardsiCLDN14.
GeneReviewsiCLDN14.
HGNCiHGNC:2035. CLDN14.
MalaCardsiCLDN14.
MIMi605608. gene.
614035. phenotype.
neXtProtiNX_O95500.
OpenTargetsiENSG00000159261.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA26561.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IP71. Eukaryota.
ENOG4111FCQ. LUCA.
GeneTreeiENSGT00760000118928.
HOGENOMiHOG000220937.
HOVERGENiHBG000643.
InParanoidiO95500.
KOiK06087.
OMAiCACAVVG.
OrthoDBiEOG091G0MX2.
PhylomeDBiO95500.
TreeFamiTF331936.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159261-MONOMER.
ReactomeiR-HSA-420029. Tight junction interactions.

Miscellaneous databases

GeneWikiiCLDN14.
GenomeRNAii23562.
PROiO95500.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159261.
CleanExiHS_CLDN14.
GenevisibleiO95500. HS.

Family and domain databases

InterProiIPR006187. Claudin.
IPR003556. Claudin14.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERiPTHR12002. PTHR12002. 1 hit.
PTHR12002:SF99. PTHR12002:SF99. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PROSITEiPS01346. CLAUDIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 148 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.