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MGP003793

UniProt Annotations

Entry Information
Gene Nameclaudin 1
Protein EntryCLD1_HUMAN
UniProt IDO95832
SpeciesHuman
Comments
Comment typeDescription
DiseaseIchthyosis-sclerosing cholangitis neonatal syndrome (NISCH) [MIM:607626]: A rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis, sclerosing cholangitis and leukocyte vacuolization. {ECO:0000269|PubMed:15521008, ECO:0000269|PubMed:16619213}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionClaudins 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). CLDN1 acts as a coreceptor for HCV entry into hepatic cells. {ECO:0000269|PubMed:23407391}.
InteractionP09758:TACSTD2; NbExp=2; IntAct=EBI-723889, EBI-4324738;
SimilarityBelongs to the claudin family. {ECO:0000305}.
Subcellular LocationCell junction, tight junction. Cell membrane; Multi-pass membrane protein.
SubunitHomopolymers interact with CLDN3, but not CLDN2, homopolymers. Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with MPDZ and INADL (By similarity). Can form homo- and heteropolymers with other claudin family members. May interact with HCV E1 and E2 proteins. {ECO:0000250, ECO:0000269|PubMed:17325668, ECO:0000269|PubMed:23704991}.
Tissue SpecificityStrongly expressed in liver and kidney. Expressed in heart, brain, spleen, lung and testis. {ECO:0000269|PubMed:9931503}.
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