InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLDN1

Summary

InnateDB Protein

IDBP-69641.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CLDN1

Protein Name

claudin 1

Synonyms

CLD1; ILVASC; SEMP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000295522

InnateDB Gene

IDBG-69639 (CLDN1)

Protein Structure

UniProt Annotation

Function

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). CLDN1 acts as a coreceptor for HCV entry into hepatic cells. {ECO:0000269PubMed:23407391}.

Subcellular Localization

Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.

Disease Associations

Ichthyosis-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:0000269PubMed:15521008, ECO:0000269PubMed:16619213}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Strongly expressed in liver and kidney. Expressed in heart, brain, spleen, lung and testis. {ECO:0000269PubMed:9931503}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	14 [view]
Protein-Protein	12 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005515	protein binding
GO:0042802	identical protein binding

Biological Process

GO:0007155	cell adhesion
GO:0016032	viral process
GO:0016338	calcium-independent cell-cell adhesion
GO:0045216	cell-cell junction organization
GO:0061436	establishment of skin barrier

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0005923	tight junction
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0016328	lateral plasma membrane