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Protein

Claudin-1

Gene

CLDN1

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

Functioni

Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members play essential roles in the formation of impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN1 is required to prevent the paracellular diffusion of small molecules through tight junctions in the epidermis and is required for the normal barrier function of the skin. Required for normal water homeostasis and to prevent excessive water loss through the skin, probably via an indirect effect on the expression levels of other proteins, since CLDN1 itself seems to be dispensable for water barrier formation in keratinocyte tight junctions (PubMed:23407391).1 Publication
(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes (PubMed:17325668, PubMed:20375010). Associates with CD81 and the CLDN1-CD81 receptor complex is essential for HCV entry into host cell (PubMed:20375010). Acts as a receptor for dengue virus (PubMed:24074594).3 Publications

GO - Molecular functioni

  • identical protein binding Source: UniProtKB
  • structural molecule activity Source: InterPro
  • virus receptor activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionHost cell receptor for virus entry, Receptor
Biological processHost-virus interaction

Enzyme and pathway databases

ReactomeiR-HSA-420029 Tight junction interactions

Protein family/group databases

TCDBi1.H.1.1.14 the claudin tight junction (claudin1) family

Names & Taxonomyi

Protein namesi
Recommended name:
Claudin-1
Alternative name(s):
Senescence-associated epithelial membrane protein
Gene namesi
Name:CLDN1
Synonyms:CLD1, SEMP1
ORF Names:UNQ481/PRO944
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163347.5
HGNCiHGNC:2032 CLDN1
MIMi603718 gene
neXtProtiNX_O95832

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 – 7CytoplasmicBy similarity7
Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Topological domaini29 – 81ExtracellularSequence analysisAdd BLAST53
Transmembranei82 – 102HelicalSequence analysisAdd BLAST21
Topological domaini103 – 115CytoplasmicSequence analysisAdd BLAST13
Transmembranei116 – 136HelicalSequence analysisAdd BLAST21
Topological domaini137 – 163ExtracellularSequence analysisAdd BLAST27
Transmembranei164 – 184HelicalSequence analysisAdd BLAST21
Topological domaini185 – 211CytoplasmicBy similarityAdd BLAST27

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Involvement in diseasei

Ichthyosis-sclerosing cholangitis neonatal syndrome (NISCH)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis, sclerosing cholangitis and leukocyte vacuolization.
See also OMIM:607626

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi32I → M: Loss of HCV receptor activity. Significant loss of interaction with CD81. Reduced interaction with OCLN. 2 Publications1
Mutagenesisi48E → K: Loss of HCV receptor activity. Significant loss of interaction with CD81. Reduced interaction with OCLN. According to PubMed:17325668 no effect observed on HCV infection susceptibility in cell culture. 2 Publications1

Keywords - Diseasei

Ichthyosis

Organism-specific databases

DisGeNETi9076
MalaCardsiCLDN1
MIMi607626 phenotype
OpenTargetsiENSG00000163347
Orphaneti59303 Ichthyosis - hypotrichosis - sclerosing cholangitis
PharmGKBiPA26557

Polymorphism and mutation databases

BioMutaiCLDN1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001447291 – 211Claudin-1Add BLAST211

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi54 ↔ 64By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

MaxQBiO95832
PaxDbiO95832
PeptideAtlasiO95832
PRIDEiO95832

PTM databases

iPTMnetiO95832
PhosphoSitePlusiO95832
SwissPalmiO95832

Expressioni

Tissue specificityi

Strongly expressed in liver and kidney. Expressed in heart, brain, spleen, lung and testis.1 Publication

Gene expression databases

BgeeiENSG00000163347
CleanExiHS_CLDN1
ExpressionAtlasiO95832 baseline and differential
GenevisibleiO95832 HS

Organism-specific databases

HPAiCAB002602
HPA048319

Interactioni

Subunit structurei

Homopolymers interact with CLDN3, but not CLDN2, homopolymers. Can form homo- and heteropolymers with other claudin family members (PubMed:23704991). Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with MPDZ and PATJ (By similarity). Interacts with OCLN, CLDN4, CLDN6 and CLDN9 (PubMed:20375010). Interacts with CD81 (PubMed:20375010, PubMed:21516087).By similarity3 Publications
(Microbial infection) Interacts with hepatitis c virus E1 and E2 proteins.1 Publication
(Microbial infection) Interacts with dengue virus small envelope protein M.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TACSTD2P097582EBI-723889,EBI-4324738

GO - Molecular functioni

Protein-protein interaction databases

BioGridi1145337 interactors.
CORUMiO95832
IntActiO95832 6 interactors.
MINTiO95832
STRINGi9606.ENSP00000295522

Structurei

3D structure databases

ProteinModelPortaliO95832
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni210 – 211Interactions with TJP1, TJP2, TJP3 and PATJBy similarity2

Sequence similaritiesi

Belongs to the claudin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IG63 Eukaryota
ENOG4111GMP LUCA
GeneTreeiENSGT00760000118928
HOGENOMiHOG000220937
HOVERGENiHBG000643
InParanoidiO95832
KOiK06087
OMAiIYEGLWM
OrthoDBiEOG091G0MX2
PhylomeDBiO95832
TreeFamiTF331936

Family and domain databases

InterProiView protein in InterPro
IPR006187 Claudin
IPR003548 Claudin1
IPR017974 Claudin_CS
IPR004031 PMP22/EMP/MP20/Claudin
PANTHERiPTHR12002 PTHR12002, 1 hit
PTHR12002:SF92 PTHR12002:SF92, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
PRINTSiPR01377 CLAUDIN1
PROSITEiView protein in PROSITE
PS01346 CLAUDIN, 1 hit

Sequencei

Sequence statusi: Complete.

O95832-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MANAGLQLLG FILAFLGWIG AIVSTALPQW RIYSYAGDNI VTAQAMYEGL
60 70 80 90 100
WMSCVSQSTG QIQCKVFDSL LNLSSTLQAT RALMVVGILL GVIAIFVATV
110 120 130 140 150
GMKCMKCLED DEVQKMRMAV IGGAIFLLAG LAILVATAWY GNRIVQEFYD
160 170 180 190 200
PMTPVNARYE FGQALFTGWA AASLCLLGGA LLCCSCPRKT TSYPTPRPYP
210
KPAPSSGKDY V
Length:211
Mass (Da):22,744
Last modified:May 1, 1999 - v1
Checksum:i07269000E6C214F0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti62I → V in AAD22962 (Ref. 2) Curated1
Sequence conflicti135V → A in AAD22962 (Ref. 2) Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF101051 mRNA Translation: AAD16433.1
AF115546 mRNA Translation: AAD22962.1
AF134160 mRNA Translation: AAF61393.1
AF260406
, AF260403, AF260404, AF260405 Genomic DNA Translation: AAK20945.1
AY358652 mRNA Translation: AAQ89015.1
CR457138 mRNA Translation: CAG33419.1
BC012471 mRNA Translation: AAH12471.1
CCDSiCCDS3295.1
RefSeqiNP_066924.1, NM_021101.4
UniGeneiHs.439060

Genome annotation databases

EnsembliENST00000295522; ENSP00000295522; ENSG00000163347
GeneIDi9076
KEGGihsa:9076
UCSCiuc003fsh.4 human

Similar proteinsi

Entry informationi

Entry nameiCLD1_HUMAN
AccessioniPrimary (citable) accession number: O95832
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: March 28, 2018
This is version 157 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