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O95832

- CLD1_HUMAN

UniProt

O95832 - CLD1_HUMAN

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Protein

Claudin-1

Gene

CLDN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. 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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiO95832.
CleanExiHS_CLDN1.
ExpressionAtlasiO95832. baseline and differential.
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.
SMRiO95832. Positions 41-179.
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.
GeneTreeiENSGT00760000118928.
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

        10         20         30         40         50
MANAGLQLLG FILAFLGWIG AIVSTALPQW RIYSYAGDNI VTAQAMYEGL
60 70 80 90 100
WMSCVSQSTG QIQCKVFDSL LNLSSTLQAT RALMVVGILL GVIAIFVATV
110 120 130 140 150
GMKCMKCLED DEVQKMRMAV IGGAIFLLAG LAILVATAWY GNRIVQEFYD
160 170 180 190 200
PMTPVNARYE FGQALFTGWA AASLCLLGGA LLCCSCPRKT TSYPTPRPYP
210
KPAPSSGKDY V
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.
SMRi O95832. Positions 41-179.
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.
GeneTreei ENSGT00760000118928.
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

Bgeei O95832.
CleanExi HS_CLDN1.
ExpressionAtlasi O95832. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 128 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