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    CLDN1 claudin 1 [ Homo sapiens (human) ]

    Gene ID: 9076, updated on 23-Apr-2017
    Official Symbol
    CLDN1provided by HGNC
    Official Full Name
    claudin 1provided by HGNC
    Primary source
    HGNC:HGNC:2032
    See related
    Ensembl:ENSG00000163347 MIM:603718; Vega:OTTHUMG00000156214
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLD1; SEMP1; ILVASC
    Summary
    Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    3q28
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (190305701..190322446, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (190023490..190040235, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1109, pseudogene Neighboring gene NMNAT1 pseudogene 3 Neighboring gene uncharacterized LOC107986170 Neighboring gene claudin 16 Neighboring gene transmembrane protein 207

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
    MedGen: C1843355 OMIM: 607626 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The exposure to HIV-1 or HIV-1 gp120 results in a significant downregulation of tight junction proteins ZO-1, Occludin, Claudin-1, Claudin-2, Claudin-3, Claudin-4, and Claudin-5 in human retinal pigment epithelial cells PubMed
    Tat tat HIV-1 Tat disrupts and downregulates the tight-junction proteins claudin-1, claudin-3, and claudin-4 in retinal pigment epithelial cells, whereas claudin-2 is upregulated PubMed
    tat Exposure of brain micro vascular endothelial cells to HIV-1 Tat results in a decrease of claudin-1, claudin-5, and zonula occludens-2 expression and cellular redistribution of claudin-5, suggesting potential disturbance of the blood-brain barrier by Tat PubMed

    Go to the HIV-1, Human Interaction Database

    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • Cell-cell junction organization, organism-specific biosystem (from REACTOME)
      Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
    • Hepatitis C, organism-specific biosystem (from KEGG)
      Hepatitis C, organism-specific biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
    • Hepatitis C, conserved biosystem (from KEGG)
      Hepatitis C, conserved biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
      Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Nectin adhesion pathway, organism-specific biosystem (from Pathway Interaction Database)
      Nectin adhesion pathway, organism-specific biosystem
      Nectin adhesion pathway
    • Pathogenic Escherichia coli infection, organism-specific biosystem (from KEGG)
      Pathogenic Escherichia coli infection, organism-specific biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
    • Pathogenic Escherichia coli infection, conserved biosystem (from KEGG)
      Pathogenic Escherichia coli infection, conserved biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
    • Pathogenic Escherichia coli infection, organism-specific biosystem (from WikiPathways)
      Pathogenic Escherichia coli infection, organism-specific biosystemSources: [http://www.genome.jp/kegg/pathway/hsa/hsa05130.html KEGG]
    • Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystem (from WikiPathways)
      Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystemPrimary or idiopathic focal segmental glomerulosclerosis (FSGS) a cause of nephrotic syndrome in children and adolescents, as well as an important cause of end stage renal disease in adults. FSGS is ...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Tight junction interactions, organism-specific biosystem (from REACTOME)
      Tight junction interactions, organism-specific biosystemTight junctions (TJs) are the most apical component of the epithelial junctional complex forming a belt-like structure at the cellular junction. When visualized by freeze-fracture electron microscopy...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    virus receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    bicellular tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to butyrate IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to interferon-gamma IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to lead ion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to transforming growth factor beta stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    drug transport across blood-nerve barrier IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of blood-nerve barrier IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of endothelial intestinal barrier IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of skin barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hyperosmotic salinity response IEA
    Inferred from Electronic Annotation
    more info
     
    liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of bicellular tight junction assembly IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterooligomerization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein homooligomerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to dexamethasone IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to interleukin-18 IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    viral entry into host cell IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bicellular tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    claudin-1
    Names
    senescence-associated epithelial membrane protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021418.1 RefSeqGene

      Range
      5001..21746
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021101.4NP_066924.1  claudin-1

      See identical proteins and their annotated locations for NP_066924.1

      Status: REVIEWED

      Source sequence(s)
      AC009520, AY358652, DA907275
      Consensus CDS
      CCDS3295.1
      UniProtKB/Swiss-Prot
      O95832
      UniProtKB/TrEMBL
      A5JSJ9
      Related
      ENSP00000295522.3, OTTHUMP00000209498, ENST00000295522.3, OTTHUMT00000343516
      Conserved Domains (1) summary
      pfam00822
      Location:5173
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      190305701..190322446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      189986455..190003201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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