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    CLDN1 claudin 1 [ Homo sapiens (human) ]

    Gene ID: 9076, updated on 11-Jul-2021

    Summary

    Official Symbol
    CLDN1provided by HGNC
    Official Full Name
    claudin 1provided by HGNC
    Primary source
    HGNC:HGNC:2032
    See related
    Ensembl:ENSG00000163347 MIM:603718
    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]
    Expression
    Biased expression in skin (RPKM 138.8), liver (RPKM 107.2) and 6 other tissues See more
    Orthologs
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    Genomic context

    See CLDN1 in Genome Data Viewer
    Location:
    3q28
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (190305707..190322446, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (190023496..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 claudin 16 Neighboring gene Sharpr-MPRA regulatory region 14389 Neighboring gene transmembrane protein 207

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
    GeneReviews: Not available
    Neonatal ichthyosis-sclerosing cholangitis syndrome
    MedGen: C1843355 OMIM: 607626 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables virus receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bicellular tight junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in bicellular tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell junction maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within cell-cell junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to butyrate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to interferon-gamma IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to lead ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to transforming growth factor beta stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of blood-nerve barrier IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of endothelial intestinal barrier IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of skin barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hyperosmotic salinity response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of bicellular tight junction assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation involved in wound healing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of wound healing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein complex oligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to dexamethasone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to interleukin-18 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in viral entry into host cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in xenobiotic transport across blood-nerve barrier IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in bicellular tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in integral component of plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    claudin-1
    Names
    senescence-associated epithelial membrane protein 1

    NCBI Reference Sequences (RefSeq)

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    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..21740
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021101.5NP_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, ENST00000295522.4
      Conserved Domains (1) summary
      pfam00822
      Location:5173
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      190305707..190322446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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