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FLASH GENE
Symbol CLDN1 contributors: SGE/shn - updated : 30-06-2015
HGNC name claudin 1
HGNC id 2032
Corresponding disease
ILVASC ichthyosis-sclerosing cholangitis syndrome
Location 3q28      Physical location : 190.023.490 - 190.040.235
Synonym name
  • claudin-1
  • senescence-associated epithelial membrane protein 1
  • Synonym symbol(s) UNQ481/PRO944, CLD1, ILVASC, SEMP1
    DNA
    TYPE functioning gene
    STRUCTURE 16.72 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D3S2398 - D3S1294- CLDN1 - D3S1314 - D3S1288 - qter
    Physical map
    LOC339928 3q28 similar to 60S ribosomal protein L29 (Cell surface heparin binding protein HIP) SIAT1 3q27-q28 sialyltransferase 1 (beta-galactoside alpha-2,6-sialyltransferase) RPL39L 3q27 ribosomal protein L39-like MGC35450 3q28 hypothetical protein MGC35450 MASP1 3q27-q28 mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor) IFRG28 3q28 28kD interferon responsive protein SST 3q28 somatostatin LOC344892 3q28 similar to Protein MGC35450/QtsA-16602 BCL6 3q27 B-cell CLL/lymphoma 6 (zinc finger protein 51) LOC389185 3 LOC389185 LPP 3q27-q28 LIM domain containing preferred translocation partner in lipoma FLJ41238 3q28 FLJ41238 protein TP73L 3q28 tumor protein p73-like MLAT4 3q29 myxoid liposarcoma associated protein 4 LOC391603 3 similar to nicotinamide nucleotide adenylyltransferase 1; NMN adenylyltransferase; pyridine nucleotide adenylyltransferase 1 CLDN1 3q28-q29 claudin 1 CLDN16 3q28-q29 claudin 16 LOC131920 3q29 hypothetical gene LOC131920 IL1RAP 3q28 interleukin 1 receptor accessory protein LOC391604 3 similar to Probable ATP-dependent helicase DHX34 (DEAH-box protein 34) LOC344901 URP 3q29 urotensin II-related peptide C3orf6 3q29 chromosome 3 open reading frame 6 LOC152138 3q29 similar to PYRIN-containing APAF1-like protein 2 (NACHT-, LRR- and PYD-containing protein 2) (Nucleotide-binding site protein 1) LOC131086 3q29 similar to microtubule-associated protein 6 FGF12 3q29-qter fibroblast growth factor 12 LOC151963 3q29 similar to BcDNA:GH11415 gene product LOC285388 3q29 similar to vascular endothelial zinc finger 1 HRASLS 3q28-q29 HRAS-like suppressor DKFZp761I1011 3q29 hypothetical protein DKFZp761I1011 OPA1 3q28-q29 optic atrophy 1 (autosomal dominant)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3445 - 211 - Morita (1999)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Endocrinepancreas    
     thyroid   highly
    Hearing/Equilibriumearinner  highly
    Reproductivemale systemmale genital tractepididymis highly Homo sapiens
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensorystato-auditory  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell
    Hearing / Equilibriumepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    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