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O95832

- CLD1_HUMAN

UniProt

O95832 - CLD1_HUMAN

Protein

Claudin-1

Gene

CLDN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members play essential roles in the formation of impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN1 is required to prevent the paracellular diffusion of small molecules through tight junctions in the epidermis and is required for the normal barrier function of the skin. Required for normal water homeostasis and to prevent excessive water loss through the skin, probably via an indirect effect on the expression levels of other proteins, since CLDN1 itself seems to be dispensable for water barrier formation in keratinocyte tight junctions (PubMed:23407391). CLDN1 acts as a coreceptor for HCV entry into hepatic cells.1 Publication

    GO - Molecular functioni

    1. identical protein binding Source: UniProtKB
    2. protein binding Source: IntAct
    3. structural molecule activity Source: InterPro

    GO - Biological processi

    1. calcium-independent cell-cell adhesion Source: UniProtKB
    2. cell adhesion Source: ProtInc
    3. cell-cell junction organization Source: MGI
    4. establishment of skin barrier Source: UniProtKB
    5. viral process Source: UniProtKB-KW

    Keywords - Biological processi

    Host-virus interaction

    Enzyme and pathway databases

    ReactomeiREACT_19373. Tight junction interactions.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Claudin-1
    Alternative name(s):
    Senescence-associated epithelial membrane protein
    Gene namesi
    Name:CLDN1
    Synonyms:CLD1, SEMP1
    ORF Names:UNQ481/PRO944
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:2032. CLDN1.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. integral component of membrane Source: ProtInc
    3. integral component of plasma membrane Source: UniProtKB
    4. lateral plasma membrane Source: Ensembl
    5. tight junction Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane, Tight junction

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi32 – 321I → M: 90% loss of HCV infection susceptibility in cell culture. 1 Publication
    Mutagenesisi48 – 481E → K: No effect on HCV infection susceptibility in cell culture. 1 Publication

    Keywords - Diseasei

    Ichthyosis

    Organism-specific databases

    MIMi607626. phenotype.
    Orphaneti59303. Ichthyosis - hypotrichosis - sclerosing cholangitis.
    PharmGKBiPA26557.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 211211Claudin-1PRO_0000144729Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi54 ↔ 64By similarity

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    MaxQBiO95832.
    PaxDbiO95832.
    PRIDEiO95832.

    PTM databases

    PhosphoSiteiO95832.

    Expressioni

    Tissue specificityi

    Strongly expressed in liver and kidney. Expressed in heart, brain, spleen, lung and testis.1 Publication

    Gene expression databases

    ArrayExpressiO95832.
    BgeeiO95832.
    CleanExiHS_CLDN1.
    GenevestigatoriO95832.

    Organism-specific databases

    HPAiCAB002602.

    Interactioni

    Subunit structurei

    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. Can form homo- and heteropolymers with other claudin family members. May interact with HCV E1 and E2 proteins.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    TACSTD2P097582EBI-723889,EBI-4324738

    Protein-protein interaction databases

    BioGridi114533. 8 interactions.
    IntActiO95832. 3 interactions.
    MINTiMINT-5002336.
    STRINGi9606.ENSP00000295522.

    Structurei

    3D structure databases

    ProteinModelPortaliO95832.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicBy similarity
    Topological domaini29 – 8153ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini103 – 11513CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini137 – 16327ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini185 – 21127CytoplasmicBy similarityAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei82 – 10221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei116 – 13621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei164 – 18421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni210 – 2112Interactions with TJP1, TJP2, TJP3 and INADLBy similarity

    Sequence similaritiesi

    Belongs to the claudin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG47316.
    HOGENOMiHOG000220937.
    HOVERGENiHBG000643.
    InParanoidiO95832.
    KOiK06087.
    OMAiFVICILC.
    OrthoDBiEOG76HQ2T.
    PhylomeDBiO95832.
    TreeFamiTF331936.

    Family and domain databases

    InterProiIPR006187. Claudin.
    IPR003548. Claudin1.
    IPR017974. Claudin_CS.
    IPR004031. PMP22/EMP/MP20/Claudin.
    [Graphical view]
    PANTHERiPTHR12002. PTHR12002. 1 hit.
    PfamiPF00822. PMP22_Claudin. 1 hit.
    [Graphical view]
    PRINTSiPR01077. CLAUDIN.
    PR01377. CLAUDIN1.
    PROSITEiPS01346. CLAUDIN. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O95832-1 [UniParc]FASTAAdd to Basket

    « Hide

    MANAGLQLLG FILAFLGWIG AIVSTALPQW RIYSYAGDNI VTAQAMYEGL    50
    WMSCVSQSTG QIQCKVFDSL LNLSSTLQAT RALMVVGILL GVIAIFVATV 100
    GMKCMKCLED DEVQKMRMAV IGGAIFLLAG LAILVATAWY GNRIVQEFYD 150
    PMTPVNARYE FGQALFTGWA AASLCLLGGA LLCCSCPRKT TSYPTPRPYP 200
    KPAPSSGKDY V 211
    Length:211
    Mass (Da):22,744
    Last modified:May 1, 1999 - v1
    Checksum:i07269000E6C214F0
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti62 – 621I → V in AAD22962. 1 PublicationCurated
    Sequence conflicti135 – 1351V → A in AAD22962. 1 PublicationCurated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF101051 mRNA. Translation: AAD16433.1.
    AF115546 mRNA. Translation: AAD22962.1.
    AF134160 mRNA. Translation: AAF61393.1.
    AF260406
    , AF260403, AF260404, AF260405 Genomic DNA. Translation: AAK20945.1.
    AY358652 mRNA. Translation: AAQ89015.1.
    CR457138 mRNA. Translation: CAG33419.1.
    BC012471 mRNA. Translation: AAH12471.1.
    CCDSiCCDS3295.1.
    RefSeqiNP_066924.1. NM_021101.4.
    UniGeneiHs.439060.

    Genome annotation databases

    EnsembliENST00000295522; ENSP00000295522; ENSG00000163347.
    GeneIDi9076.
    KEGGihsa:9076.
    UCSCiuc003fsh.3. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF101051 mRNA. Translation: AAD16433.1 .
    AF115546 mRNA. Translation: AAD22962.1 .
    AF134160 mRNA. Translation: AAF61393.1 .
    AF260406
    , AF260403 , AF260404 , AF260405 Genomic DNA. Translation: AAK20945.1 .
    AY358652 mRNA. Translation: AAQ89015.1 .
    CR457138 mRNA. Translation: CAG33419.1 .
    BC012471 mRNA. Translation: AAH12471.1 .
    CCDSi CCDS3295.1.
    RefSeqi NP_066924.1. NM_021101.4.
    UniGenei Hs.439060.

    3D structure databases

    ProteinModelPortali O95832.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114533. 8 interactions.
    IntActi O95832. 3 interactions.
    MINTi MINT-5002336.
    STRINGi 9606.ENSP00000295522.

    PTM databases

    PhosphoSitei O95832.

    Proteomic databases

    MaxQBi O95832.
    PaxDbi O95832.
    PRIDEi O95832.

    Protocols and materials databases

    DNASUi 9076.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000295522 ; ENSP00000295522 ; ENSG00000163347 .
    GeneIDi 9076.
    KEGGi hsa:9076.
    UCSCi uc003fsh.3. human.

    Organism-specific databases

    CTDi 9076.
    GeneCardsi GC03M190023.
    HGNCi HGNC:2032. CLDN1.
    HPAi CAB002602.
    MIMi 603718. gene.
    607626. phenotype.
    neXtProti NX_O95832.
    Orphaneti 59303. Ichthyosis - hypotrichosis - sclerosing cholangitis.
    PharmGKBi PA26557.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG47316.
    HOGENOMi HOG000220937.
    HOVERGENi HBG000643.
    InParanoidi O95832.
    KOi K06087.
    OMAi FVICILC.
    OrthoDBi EOG76HQ2T.
    PhylomeDBi O95832.
    TreeFami TF331936.

    Enzyme and pathway databases

    Reactomei REACT_19373. Tight junction interactions.

    Miscellaneous databases

    ChiTaRSi CLDN1. human.
    GeneWikii CLDN1.
    GenomeRNAii 9076.
    NextBioi 34009.
    PROi O95832.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95832.
    Bgeei O95832.
    CleanExi HS_CLDN1.
    Genevestigatori O95832.

    Family and domain databases

    InterProi IPR006187. Claudin.
    IPR003548. Claudin1.
    IPR017974. Claudin_CS.
    IPR004031. PMP22/EMP/MP20/Claudin.
    [Graphical view ]
    PANTHERi PTHR12002. PTHR12002. 1 hit.
    Pfami PF00822. PMP22_Claudin. 1 hit.
    [Graphical view ]
    PRINTSi PR01077. CLAUDIN.
    PR01377. CLAUDIN1.
    PROSITEi PS01346. CLAUDIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "SEMP1, a senescence-associated cDNA isolated from human mammary epithelial cells, is a member of an epithelial membrane protein superfamily."
      Swisshelm K.L., Machl A., Planitzer S., Robertson R., Kubbies M., Hosier S.
      Gene 226:285-295(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    2. "Human claudin-1 isolated from Caco-2 mRNA."
      Mitic L.M., Anderson J.M.
      Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Assignment of claudin-1 (CLDN1) to human chromosome 3q28-->q29 with somatic cell hybrids."
      Halford S., Spencer P., Greenwood J., Winton H., Hunt D.M., Adamson P.
      Cytogenet. Cell Genet. 88:217-217(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    4. "Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer."
      Kraemer F., White K., Kubbies M., Swisshelm K.L., Weber B.H.F.
      Hum. Genet. 107:249-256(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Urinary bladder.
    8. "Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease."
      Hadj-Rabia S., Baala L., Vabres P., Hamel-Teillac D., Jacquemin E., Fabre M., Lyonnet S., De Prost Y., Munnich A., Hadchouel M., Smahi A.
      Gastroenterology 127:1386-1390(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN NISCH.
    9. Cited for: INVOLVEMENT IN NISCH.
    10. "Claudin-1 is a hepatitis C virus co-receptor required for a late step in entry."
      Evans M.J., von Hahn T., Tscherne D.M., Syder A.J., Panis M., Wolk B., Hatziioannou T., McKeating J.A., Bieniasz P.D., Rice C.M.
      Nature 446:801-805(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH HCV E1 AND E2 PROTEINS, MUTAGENESIS OF ILE-32 AND GLU-48.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Contribution of tight junction proteins to ion, macromolecule, and water barrier in keratinocytes."
      Kirschner N., Rosenthal R., Furuse M., Moll I., Fromm M., Brandner J.M.
      J. Invest. Dermatol. 133:1161-1169(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    13. Cited for: SUBCELLULAR LOCATION, SUBUNIT.

    Entry informationi

    Entry nameiCLD1_HUMAN
    AccessioniPrimary (citable) accession number: O95832
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 127 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3