Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CLDN1 contributors: SGE/shn - updated : 30-06-2015
HGNC name claudin 1
HGNC id 2032
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four putative transmembrane segments
  • PMP-22/EMP/MP20/claudin domains
  • HOMOLOGY
    interspecies homolog to Cldn1, Mus musculus
    ortholog to Cldn1, Rattus norvegicus
    ortholog to CLDN1, Pan troglodytes
    ortholog to cldn1, Danio rerio
    Homologene
    FAMILY
  • claudin family
  • CATEGORY adhesion , structural protein , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    basic FUNCTION
  • tight junction specific obliteration of the intercellular space
  • creating charge specific channels in the paracellular space
  • Ca2+ independent cell adhesion activity
  • direct downstream target gene of snail family factors in epithelial cells
  • involved in the beta-catenin-Tcf/LEF signaling pathway
  • role in airway tight junctional permeability
  • role in the regulation of cellular transformation, tumor growth, and metastasis
  • a key factor for Hepatitis C virus entry
  • with CLDN9 and CLDN6, are entry cofactors for hepatitis C virus HCV (Meertens 2008)
  • plays an important role in cancer invasion and metastasis (Kondo 2008)
  • involved in regulation of renal epithelial tight junctions by the von Hippel-Lindau tumor suppressor gene with occludin independently of E-cadherin (Harten 2009)
  • necessary and sufficient to induce invasive behavior in liver cells and PRKCD signaling pathway is critically required for CLDN1-induced acquisition of the malignant phenotype (Yoon 2010)
  • essential role for Claudin-CD81 complexes in HCV infection
  • has a causal role in the epithelial-mesenchymal transition (EMT) in human liver cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major structural component of tight junction (TJ) strands
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ZO-1, ZO-2, and ZO-3
  • claudin 3, CLDN3
  • MT1-MMP and MMP-2
  • protein associated to tight junctions, PATJ
  • ZO-1 and multi-PDZ domain protein 1, MUPP1
  • CD81 molecule
  • RAB5A-mediated localization of claudin-1 is regulated by proteasomes in endothelial cells
  • CLDN4 accumulates CLDN1 and CLDN3 in TJs to enhance cell-cell contact in renal tubular epithelial cells
  • overexpression of BHLHE40 may promote the invasiveness of breast cancer through downregulation of CLDN1
  • cell & other
    REGULATION
    induced by by tumor necrosis factor-alpha in pancreatic cancer cells (Kondo 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) ILVASC
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast cancer cells
    tumoral     --over  
    may be involved at early stages of transformation in inflammatory bowel disease -associated neoplasia
    tumoral     --over  
    in colorectal cancer
    tumoral     --low  
    correlated with the recurrence status and poor prognosis in esophageal cancer and its expression may be a good indicator of recurrence in esophageal cancer
    tumoral     --low  
    progressively decreased in solar keratosis and skin squamous cell carcinomas compared to normal skin
    tumoral     --over  
    of CLDN1 and CLDN10 indicates a favorable prognosis for overall survival in some patients with lung adenocarcinoma
    Susceptibility
  • increased expression of claudin-1 in human primary colon carcinoma and metastasis and in cell lines derived from primary and metastatic tumors
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    potential markers and therapy target in colorectal cancer
    cancerdigestiveliver
    might provide a pivotal point for therapeutic intervention in hepatocellular carcinoma
    ANIMAL & CELL MODELS
    Cldn1(-/-) mice died within 1 d of birth with wrinkled skin with severely affected epidermal barrier