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Protein

Claudin-1

Gene

CLDN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 in hepatocytes (PubMed:17325668). Acts as a receptor for dengue virus (PubMed:24074594).2 Publications

GO - Molecular functioni

GO - Biological processi

  • bicellular tight junction assembly Source: UniProtKB
  • calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules Source: UniProtKB
  • cell-cell junction organization Source: MGI
  • establishment of skin barrier Source: UniProtKB
  • protein heterooligomerization Source: UniProtKB
  • protein homooligomerization Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Host cell receptor for virus entry, Receptor

Keywords - Biological processi

Host-virus interaction

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163347-MONOMER.
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

HGNCiHGNC:2032. CLDN1.

Subcellular locationi

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

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • bicellular tight junction Source: UniProtKB
  • integral component of membrane Source: ProtInc
  • integral component of plasma membrane Source: UniProtKB
  • lateral plasma membrane Source: Ensembl
Complete GO annotation...

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: 90% loss of HCV infection susceptibility in cell culture. 1 Publication1
Mutagenesisi48E → K: No effect on HCV infection susceptibility in cell culture. 1 Publication1

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. Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with MPDZ and PATJ (By similarity). Can form homo- and heteropolymers with other claudin family members.By similarity1 Publication
(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

BioGridi114533. 7 interactors.
IntActiO95832. 3 interactors.
MINTiMINT-5002336.
STRINGi9606.ENSP00000295522.

Structurei

3D structure databases

ProteinModelPortaliO95832.
SMRiO95832.
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.
OMAiWKIYSYA.
OrthoDBiEOG091G0MX2.
PhylomeDBiO95832.
TreeFamiTF331936.

Family and domain databases

InterProiIPR006187. Claudin.
IPR003548. Claudin1.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERiPTHR12002. PTHR12002. 1 hit.
PTHR12002:SF92. PTHR12002:SF92. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01377. CLAUDIN1.
PROSITEiPS01346. CLAUDIN. 1 hit.
[Graphical view]

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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliO95832.
SMRiO95832.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114533. 7 interactors.
IntActiO95832. 3 interactors.
MINTiMINT-5002336.
STRINGi9606.ENSP00000295522.

Protein family/group databases

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

PTM databases

iPTMnetiO95832.
PhosphoSitePlusiO95832.
SwissPalmiO95832.

Polymorphism and mutation databases

BioMutaiCLDN1.

Proteomic databases

MaxQBiO95832.
PaxDbiO95832.
PeptideAtlasiO95832.
PRIDEiO95832.

Protocols and materials databases

DNASUi9076.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9076.
DisGeNETi9076.
GeneCardsiCLDN1.
HGNCiHGNC:2032. CLDN1.
HPAiCAB002602.
HPA048319.
MalaCardsiCLDN1.
MIMi603718. gene.
607626. phenotype.
neXtProtiNX_O95832.
OpenTargetsiENSG00000163347.
Orphaneti59303. Ichthyosis - hypotrichosis - sclerosing cholangitis.
PharmGKBiPA26557.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163347-MONOMER.
ReactomeiR-HSA-420029. Tight junction interactions.

Miscellaneous databases

ChiTaRSiCLDN1. human.
GeneWikiiCLDN1.
GenomeRNAii9076.
PROiO95832.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163347.
CleanExiHS_CLDN1.
ExpressionAtlasiO95832. baseline and differential.
GenevisibleiO95832. HS.

Family and domain databases

InterProiIPR006187. Claudin.
IPR003548. Claudin1.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERiPTHR12002. PTHR12002. 1 hit.
PTHR12002:SF92. PTHR12002:SF92. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01377. CLAUDIN1.
PROSITEiPS01346. CLAUDIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCLD1_HUMAN
AccessioniPrimary (citable) accession number: O95832
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: November 2, 2016
This is version 149 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 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.