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Protein

Claudin-14

Gene

CLDN14

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

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000159261.10
HGNCiHGNC:2035 CLDN14
MIMi605608 gene
neXtProtiNX_O95500

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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 dbSNP:rs368027306EnsemblClinVar.1
Natural variantiVAR_01073885V → D in DFNB29. 3 PublicationsCorresponds to variant dbSNP:rs74315437EnsemblClinVar.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 dbSNP:rs786204841EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi23562
GeneReviewsiCLDN14
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

PaxDbiO95500
PRIDEiO95500
ProteomicsDBi50930

PTM databases

iPTMnetiO95500
PhosphoSitePlusiO95500
SwissPalmiO95500

Expressioni

Tissue specificityi

Liver, kidney. Also found in ear.

Gene expression databases

BgeeiENSG00000159261 Expressed in 66 organ(s), highest expression level in right lobe of liver
CleanExiHS_CLDN14
GenevisibleiO95500 HS

Organism-specific databases

HPAiHPA054707

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

IntActiO95500, 4 interactors
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
OMAiPYQAQPR
OrthoDBiEOG091G0MX2
PhylomeDBiO95500
TreeFamiTF331936

Family and domain databases

InterProiView protein in InterPro
IPR006187 Claudin
IPR003556 Claudin14
IPR017974 Claudin_CS
IPR004031 PMP22/EMP/MP20/Claudin
PANTHERiPTHR12002 PTHR12002, 1 hit
PTHR12002:SF99 PTHR12002:SF99, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
PROSITEiView protein in PROSITE
PS01346 CLAUDIN, 1 hit

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 → M2 PublicationsCorresponds to variant dbSNP:rs113831133EnsemblClinVar.1
Natural variantiVAR_06997981R → H in DFNB29. 2 PublicationsCorresponds to variant dbSNP:rs368027306EnsemblClinVar.1
Natural variantiVAR_01073885V → D in DFNB29. 3 PublicationsCorresponds to variant dbSNP:rs74315437EnsemblClinVar.1
Natural variantiVAR_06998086I → V1 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 dbSNP:rs786204841EnsemblClinVar.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

Similar proteinsi

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, 4 interactors
STRINGi9606.ENSP00000339292

PTM databases

iPTMnetiO95500
PhosphoSitePlusiO95500
SwissPalmiO95500

Polymorphism and mutation databases

BioMutaiCLDN14

Proteomic databases

PaxDbiO95500
PRIDEiO95500
ProteomicsDBi50930

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
EuPathDBiHostDB:ENSG00000159261.10
GeneCardsiCLDN14
GeneReviewsiCLDN14
HGNCiHGNC:2035 CLDN14
HPAiHPA054707
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
OMAiPYQAQPR
OrthoDBiEOG091G0MX2
PhylomeDBiO95500
TreeFamiTF331936

Enzyme and pathway databases

ReactomeiR-HSA-420029 Tight junction interactions

Miscellaneous databases

ChiTaRSiCLDN14 human
GeneWikiiCLDN14
GenomeRNAii23562
PROiPR:O95500
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159261 Expressed in 66 organ(s), highest expression level in right lobe of liver
CleanExiHS_CLDN14
GenevisibleiO95500 HS

Family and domain databases

InterProiView protein in InterPro
IPR006187 Claudin
IPR003556 Claudin14
IPR017974 Claudin_CS
IPR004031 PMP22/EMP/MP20/Claudin
PANTHERiPTHR12002 PTHR12002, 1 hit
PTHR12002:SF99 PTHR12002:SF99, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
PROSITEiView protein in PROSITE
PS01346 CLAUDIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCLD14_HUMAN
AccessioniPrimary (citable) accession number: O95500
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: September 12, 2018
This is version 159 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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