CLDN1
entrez
9076
canonical
uniprot
O95832
canonical
ensembl
ENSG00000163347
resolver
ensp
ENSP00000295522
resolver
enst
ENST00000295522
resolver
genesymbol
CLDN1
resolver
genesymbol_syn
CLD1
resolver
genesymbol_syn
SEMP1
resolver
hgnc
HGNC:2032
resolver
uniprot
A5JSJ9
resolver
uniprot
D3DNV9
resolver
uniprot_entry
A5JSJ9_HUMAN
resolver
uniprot_entry
CLD1_HUMAN
resolver
uniprot_sec
D3DNV9
resolver
amino_acid_sequence
MANAGLQLLGFILAFLGWIGAIVSTALPQWRIYSYAGDNIVTAQAMYEGLWMSCVSQSTGQIQCKVFDSLLNLSSTLQATRALMVVGILLGVIAIFVATVGMKCMKCLEDDEVQKMRMAVIGGAIFLLAGLAILVATAWYGNRIVQEFYDPMTPVNARYEFGQALFTGWAAASLCLLGGALLCCSCPRKTTSYPTPRPYPKPAPSSGKDYV
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:15521008, ECO:0000269|PubMed:16619213}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000269|PubMed:23407391}.; FUNCTION: (Microbial infection) Acts as a co-receptor for hepatitis C virus (HCV) in hepatocytes (PubMed:17325668, PubMed:20375010, PubMed:24038151). 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). {ECO:0000269|PubMed:17325668, ECO:0000269|PubMed:20375010, ECO:0000269|PubMed:24038151, ECO:0000269|PubMed:24074594}.
uniprot
proteins
mass_dalton
22744
uniprot
proteins
mutagenesis
MUTAGEN 32; /note="I->M: Loss of HCV receptor activity. Significant loss of interaction with CD81. Reduced interaction with OCLN."; /evidence="ECO:0000269|PubMed:17325668, ECO:0000269|PubMed:20375010"; MUTAGEN 48; /note="E->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."; /evidence="ECO:0000269|PubMed:17325668, ECO:0000269|PubMed:20375010
uniprot
proteins
protein_family
Claudin family
uniprot
proteins
pubmed
10828592
uniprot
proteins
pubmed
11071387
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15521008
uniprot
proteins
pubmed
16619213
uniprot
proteins
pubmed
17325668
uniprot
proteins
pubmed
20375010
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21516087
uniprot
proteins
pubmed
23407391
uniprot
proteins
pubmed
23704991
uniprot
proteins
pubmed
24038151
uniprot
proteins
pubmed
24074594
uniprot
proteins
pubmed
30734065
uniprot
proteins
pubmed
9931503
uniprot
proteins
sequence_length
211
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:20375010, ECO:0000269|PubMed:23407391, ECO:0000269|PubMed:30734065}. Cell membrane {ECO:0000269|PubMed:23704991}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000269|PubMed:20375010}. Note=Associates with CD81 and the CLDN1-CD81 complex localizes to the basolateral cell membrane. {ECO:0000269|PubMed:20375010}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 82..102; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 116..136; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 164..184; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins