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CLDN1 Gene

protein-coding   GIFtS: 66
GCID: GC03M190023

Claudin 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Claudin 11 2     ILVASC2 5
SEMP12 3 5     claudin-12
Senescence-Associated Epithelial Membrane Protein 11 2     Senescence-Associated Epithelial Membrane Protein3
CLD12 3     

External Ids:    HGNC: 20321   Entrez Gene: 90762   Ensembl: ENSG000001633477   OMIM: 6037185   UniProtKB: O958323   

Export aliases for CLDN1 gene to outside databases

Previous GC identifers: GC03M187025 GC03M191284 GC03M191425 GC03M191344 GC03M191506 GC03M187423


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CLDN1 Gene:
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)

GeneCards Summary for CLDN1 Gene:
CLDN1 (claudin 1) is a protein-coding gene. Diseases associated with CLDN1 include ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, and sclerosing cholangitis. GO annotations related to this gene include structural molecule activity and identical protein binding. An important paralog of this gene is CLDN4.

UniProtKB/Swiss-Prot: CLD1_HUMAN, O95832
Function: Plays a major role in tight junction-specific obliteration of the intercellular space, through
calcium-independent cell-adhesion activity (By similarity). Acts as a co-receptor for HCV entry into hepatic
cells

Gene Wiki entry for CLDN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLDN1 gene promoter:
         HFH-3   AML1a   Bach2   RelA   NF-kappaB   FOXI1   MEF-2A   aMEF-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLDN1 promoter sequence
   Search Chromatin IP Primers for CLDN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLDN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q28-q29   Ensembl cytogenetic band:  3q28   HGNC cytogenetic band: 3q28-q29

CLDN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLDN1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M190023:  view genomic region     (about GC identifiers)

Start:
190,023,490 bp from pter      End:
190,040,264 bp from pter
Size:
16,775 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CLD1_HUMAN, O95832 (See protein sequence)
Recommended Name: Claudin-1  
Size: 211 amino acids; 22744 Da
Subunit: Can form homo- and heteropolymers with other CLDN. Homopolymers interact with CLDN3, but not CLDN2,
homopolymers. Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with MPDZ and INADL (By
similarity). May interact with HCV E1 and E2 proteins

Explore the universe of human proteins at neXtProt for CLDN1: NX_O95832

Explore proteomics data for CLDN1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CLDN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_066924.1  
    ENSEMBL proteins: 
     ENSP00000295522  
    Reactome Protein details: O95832

    CLDN1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CLDN1

    CLDN1 Antibody Products:

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    CLDN1 Assay Products:

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    Cloud-Clone Corp. CLIAs for CLDN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CLDN: Claudins

    4 InterPro protein domains:
     IPR017974 Claudin_CS
     IPR003548 Claudin1
     IPR006187 Claudin
     IPR004031 PMP22/EMP/MP20/Claudin

    Graphical View of Domain Structure for InterPro Entry O95832

    ProtoNet protein and cluster: O95832

    2 Blocks protein domains:
    IPB003548 Claudin-1 signature
    IPB006187 Claudin family signature


    UniProtKB/Swiss-Prot: CLD1_HUMAN, O95832
    Similarity: Belongs to the claudin family


    CLDN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLD1_HUMAN, O95832
    Function: Plays a major role in tight junction-specific obliteration of the intercellular space, through
    calcium-independent cell-adhesion activity (By similarity). Acts as a co-receptor for HCV entry into hepatic
    cells

         Genatlas biochemistry entry for CLDN1:
    claudin 1,clostridium perfringens enterotoxin receptor 1,claudin family of major structural components of tight
    junction (TJ) strands,expressed in thyroid,placenta,pancreas,lung and kidney

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding ----
    GO:0042802identical protein binding ISS--
         
    CLDN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CLDN1:
     Increased cell death HMECs cel 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cldn1):
     growth/size/body  homeostasis/metabolism  integument  mortality/aging 

    CLDN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CLDN1: Cldn1tm1Lex Cldn1tm1Sts

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLDN1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLDN1

    miRNA
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    miRTarBase miRNAs that target CLDN1:
    hsa-mir-375 (MIRT019768), hsa-mir-155-5p (MIRT001558), hsa-mir-335-5p (MIRT017510), hsa-mir-29b-3p (MIRT048360)

    Block miRNA regulation of human, mouse, rat CLDN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CLDN1 (see all 23):
    hsa-miR-562 hsa-miR-300 hsa-miR-3942-5p hsa-miR-29c hsa-miR-29a hsa-miR-583 hsa-miR-155 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidCLDN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CLDN1
    Predesigned siRNA for gene silencing in human, mouse, rat CLDN1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for CLDN1 (see all 5)
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    GenScript: all cDNA clones in your preferred vector (see all 2): CLDN1 (NM_001185056)
    Sino Biological Human cDNA Clone for CLDN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLDN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLDN1

    Cell Line
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    ESI BIO PureStem Progenitor for CLDN1: 
    PureStem ES-209, Meso-prx/latp Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLDN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CLD1_HUMAN, O95832: Cell junction, tight junction (By similarity). Cell membrane; Multi-pass membrane protein
    (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    extracellular2
    endosome1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ----
    GO:0005887integral component of plasma membrane TAS9647647
    GO:0005923tight junction ISS--
    GO:0016021integral component of membrane TAS9931503
    GO:0016324apical plasma membrane IEA--

    CLDN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CLDN1 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Development Slit Robo signaling
    Pathogenic Escherichia coli infection0.43
    Pathogenic Escherichia coli infection0.41
    2Cell junction organization
    Cell junction organization0.70
    Cell-Cell communication0.64
    Cell-cell junction organization0.70
    Tight junction interactions0.51
    3Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    4Integrin Pathway
    Transendothelial Migration of Leukocytes0.38
    5Cell adhesion Integrin mediated cell adhesion and migration
    Cell adhesion Tight junctions0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CLDN1
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    Transendothelial Migration of Leukocytes
    WNT Signaling

    1 Cell Signaling Technology (CST) Pathway for CLDN1
        Adhesion

    2 GeneGo (Thomson Reuters) Pathways for CLDN1
        Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Tight junctions

    2 BioSystems Pathways for CLDN1
        Pathogenic Escherichia coli infection
    Nectin adhesion pathway


    1 Reactome Pathway for CLDN1
        Tight junction interactions


    5 Kegg Pathways  (Kegg details for CLDN1):
        Cell adhesion molecules (CAMs)
    Tight junction
    Leukocyte transendothelial migration
    Pathogenic Escherichia coli infection
    Hepatitis C


    CLDN1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CLDN1: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CLDN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CLDN1 (O958322, 3 ENSP000002955224) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRD4O608852, 3, ENSP000002633774MINT-63186 I2D: score=4 STRING: ENSP00000263377
    INADLQ8NI352, 3, ENSP000003602004MINT-58719 I2D: score=2 STRING: ENSP00000360200
    TJP1Q071573, ENSP000002815374I2D: score=5 STRING: ENSP00000281537
    CLDN5O005013, ENSP000003845544I2D: score=1 STRING: ENSP00000384554
    LNX1Q8TBB13, ENSP000002639254I2D: score=1 STRING: ENSP00000263925
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion TAS9647647
    GO:0016032viral process IEA--
    GO:0016338calcium-independent cell-cell adhesion ISS--
    GO:0019048modulation by virus of host morphology or physiology ----
    GO:0045216cell-cell junction organization IMP--

    CLDN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CLDN1 (CLD1)

    1 HMDB Compound for CLDN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CLDN1 gene: 
    NM_021101.4  

    Unigene Cluster for CLDN1:

    Claudin 1
    Hs.439060  [show with all ESTs]
    Unigene Representative Sequence: NM_021101
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295522(uc003fsh.3) ENST00000490800
    miRNA
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    hsa-miR-562 hsa-miR-300 hsa-miR-3942-5p hsa-miR-29c hsa-miR-29a hsa-miR-583 hsa-miR-155 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidCLDN1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat CLDN1
      QuantiFast Probe-based Assays in human, mouse, rat CLDN1

    Additional mRNA sequence: 

    AF086514.1 AF101051.1 AF114837.1 AF115546.1 AF134160.1 AK225963.1 AK296934.1 AK312866.1 
    AY358652.1 BC012471.1 CR457138.1 EF564137.1 

    9 DOTS entries:

    DT.453813  DT.95117111  DT.100643553  DT.97825926  DT.120925754  DT.100754287  DT.75161381  DT.95238946 
    DT.449027 

    Selected AceView cDNA sequences (see all 243):

    CK819774 BG289942 BC012471 BX507101 BM127057 H95362 BQ923351 BM141663 
    CD676887 NM_021101 AA921786 AI433150 AW631445 BQ641744 BU153383 AI858215 
    AI300819 AU108063 T11196 CK819775 BG286357 BM141921 BM982831 CD519342 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CLDN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGATATCAG
    CLDN1 Expression
    About this image


    CLDN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Epithelial Cells
             Parietal Epithelial Cells Bowman's Capsule
     
     Kidney (Urinary System)
             Parietal Epithelial Cells Bowman's Capsule
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebellum
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Granulocytes Peripheral Blood
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Line H9 (Naive)
    CLDN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLDN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.439060

    UniProtKB/Swiss-Prot: CLD1_HUMAN, O95832
    Tissue specificity: Strongly expressed in liver and kidney. Expressed in heart, brain, spleen, lung and testis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CLDN1: 
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for CLDN1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CLDN1
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    QuantiFast Probe-based Assays in human, mouse, rat CLDN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLDN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CLDN1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cldn11 , 5 claudin 11, 5 88.15(n)1
    90.52(a)1
      16 (18.00 cM)5
    127371  NM_016674.41  NP_057883.11 
     263566425 
    chicken
    (Gallus gallus)
    Aves CLDN11 claudin 1 72.99(n)
    74.41(a)
      424910  NM_001013611.2  NP_001013629.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLDN16
    claudin 1
    78(a)
    1 ↔ 1
    GL343386.1(308997-315411)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ064054.12   -- 70.13(n)    BJ064054.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF260240.12   -- 71.76(n)   60635  AF260240.1 


    ENSEMBL Gene Tree for CLDN1 (if available)
    TreeFam Gene Tree for CLDN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLDN1 gene
    CLDN42  CLDN92  CLDN82  CLDN202  CLDN172  CLDN52  CLDN22  CLDN32  
    CLDN142  CLDN62  CLDN72  CLDN192  
    Selected SIMAP similar genes for CLDN1 using alignment to 2 protein entries:     CLD1_HUMAN (see all proteins) (see all similar genes):
    CLDN7    CLDN19    CLDN4    CLDN6    CLDN3    CLDN9
    CLDN8    CLDN5    CLDN17    CLDN14    CLDN2    CLDN20
    CLDN18    CLDN10    CLDN24    CLDN15    CLDN22    CLDN25

    CLDN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CLDN1 (see all 465)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1506905791,2
    C--189891527(+) CCTTTA/GTGAGG 1 -- ds50010--------
    rs98422141,2
    C,F,A,H--189891742(+) ATAGAC/TGGGCC 1 -- ds500118Minor allele frequency- T:0.23NA EA NS WA CSA 809
    rs1399180151,2
    --189891779(+) TCATGC/GTGAGT 1 -- ds50010--------
    rs1157590591,2
    F--189891813(+) CTCTAC/TCAAGA 1 -- ds50011Minor allele frequency- T:0.04WA 118
    rs1448032801,2
    C--189891916(+) CAAATG/TCCTAT 1 -- ut310--------
    rs82981,2
    C,F,A,H--189891919(+) ATTCCC/TATTAT 1 -- ut3127Minor allele frequency- T:0.26MN NA EA NS WA CSA 2875
    rs1471725041,2
    C--189892011(+) AACAAC/TTTCGT 1 -- ut310--------
    rs1841486811,2
    --189892097(+) TGAAGA/TTCTAT 1 -- ut310--------
    rs1403667591,2
    C--189892098(+) GAAGAC/TCTATG 1 -- ut310--------
    rs1997602141,2
    --189892120(+) AGCCA-/TTTAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CLDN1 (190023490 - 190040264 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CLDN1: --
    Human Gene Mutation Database (HGMD): CLDN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLDN1
    DNA2.0 Custom Variant and Variant Library Synthesis for CLDN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603718   
    OMIM disorders: 607626  
    UniProtKB/Swiss-Prot: CLD1_HUMAN, O95832
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for CLDN1 (see all 61):    
    About MalaCards
    ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis    sclerosing cholangitis    cholangitis    lung squamous cell carcinoma
    follicular dendritic cell sarcoma    dendritic cell sarcoma    gastrointestinal system disease    hepatitic c virus
    neurilemmoma    venous insufficiency    cholecystitis    alopecia
    perineurioma    hypotrichosis    hepatitis c virus    eosinophilic esophagitis
    sporadic breast cancer    gastric adenocarcinoma    epididymitis    ulcerative colitis

    2 diseases from the University of Copenhagen DISEASES database for CLDN1:
    Perineurioma     Gastrointestinal system disease

    CLDN1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for CLDN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 22.6 23 11071387 (5), 14648703 (3), 11920682 (3), 15743508 (1) (see all 6)
    breast carcinoma 18.2 1 11071387 (1)
    tumors 11.5 25 11920682 (5), 14648703 (3), 11071387 (2), 18991282 (1) (see all 7)
    carcinoma 2.57 4 18991282 (2), 14648703 (1)
    metastasis 0 12 18787218 (4), 15743508 (1), 17611630 (1)

    Genetic Association Database (GAD): CLDN1
    Human Genome Epidemiology (HuGE) Navigator: CLDN1 (2 documents)

    Export disorders for CLDN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CLDN1 gene, integrated from 10 sources (see all 155):
    (articles sorted by number of sources associating them with CLDN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Assignment of claudin-1 (CLDN1) to human chromosome 3q28-->q29 with somatic cell hybrids. (PubMed id 10828592)1, 2, 3, 9 Halford S....Adamson P. (Cytogenet. Cell Genet. 2000)
    2. Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer. (PubMed id 11071387)1, 2, 9 Kraemer F.... Weber B.H.F. (Hum. Genet. 2000)
    3. SEMP1, a senescence-associated cDNA isolated from human mammary epithelial cells, is a member of an epithelial membrane protein superfamily. (PubMed id 9931503)1, 2, 9 Swisshelm K.L....Hosier S. (Gene 1999)
    4. Claudin-1 is a hepatitis C virus co-receptor required for a late step in entry. (PubMed id 17325668)1, 2, 9 Evans M.J.... Rice C.M. (Nature 2007)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Genetic variation in CLDN1 and susceptibility to hepatitis C virus infection. (PubMed id 19674288)1, 4 Bekker V....O'Brien T.R. (J. Viral Hepat. 2010)
    7. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. (PubMed id 15521008)1, 2 Hadj-Rabia S.... Smahi A. (Gastroenterology 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    10. Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands. (PubMed id 9892664)1, 3 Morita K....Tsukita S. (Proc. Natl. Acad. Sci. U.S.A. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 9076 HGNC: 2032 AceView: CLDN1 Ensembl:ENSG00000163347 euGenes: HUgn9076
    ECgene: CLDN1 Kegg: 9076 H-InvDB: CLDN1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CLDN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CLDN1 gene:
    Search GeneIP for patents involving CLDN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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