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O95832 (CLD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Claudin-1
Alternative name(s):
Senescence-associated epithelial membrane protein
Gene names
Name:CLDN1
Synonyms:CLD1, SEMP1
ORF Names:UNQ481/PRO944
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length211 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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 (Ref.12). CLDN1 acts as a coreceptor for HCV entry into hepatic cells. Ref.12

Subunit structure

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. Ref.10 Ref.13

Subcellular location

Cell junctiontight junction. Cell membrane; Multi-pass membrane protein Ref.12 Ref.13.

Tissue specificity

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

Involvement in disease

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. Ref.8 Ref.9

Sequence similarities

Belongs to the claudin family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

TACSTD2P097582EBI-723889,EBI-4324738

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 211211Claudin-1
PRO_0000144729

Regions

Topological domain1 – 77Cytoplasmic By similarity
Transmembrane8 – 2821Helical; Potential
Topological domain29 – 8153Extracellular Potential
Transmembrane82 – 10221Helical; Potential
Topological domain103 – 11513Cytoplasmic Potential
Transmembrane116 – 13621Helical; Potential
Topological domain137 – 16327Extracellular Potential
Transmembrane164 – 18421Helical; Potential
Topological domain185 – 21127Cytoplasmic By similarity
Region210 – 2112Interactions with TJP1, TJP2, TJP3 and INADL By similarity

Amino acid modifications

Disulfide bond54 ↔ 64 By similarity

Experimental info

Mutagenesis321I → M: 90% loss of HCV infection susceptibility in cell culture. Ref.10
Mutagenesis481E → K: No effect on HCV infection susceptibility in cell culture. Ref.10
Sequence conflict621I → V in AAD22962. Ref.2
Sequence conflict1351V → A in AAD22962. Ref.2

Sequences

Sequence LengthMass (Da)Tools
O95832 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 07269000E6C214F0

FASTA21122,744
        10         20         30         40         50         60 
MANAGLQLLG FILAFLGWIG AIVSTALPQW RIYSYAGDNI VTAQAMYEGL WMSCVSQSTG 

        70         80         90        100        110        120 
QIQCKVFDSL LNLSSTLQAT RALMVVGILL GVIAIFVATV GMKCMKCLED DEVQKMRMAV 

       130        140        150        160        170        180 
IGGAIFLLAG LAILVATAWY GNRIVQEFYD PMTPVNARYE FGQALFTGWA AASLCLLGGA 

       190        200        210 
LLCCSCPRKT TSYPTPRPYP KPAPSSGKDY V 

« Hide

References

« Hide 'large scale' references
[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]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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]"Confirmation of the origin of NISCH syndrome."
Feldmeyer L., Huber M., Fellmann F., Beckmann J.S., Frenk E., Hohl D.
Hum. Mutat. 27:408-410(2006) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"Production, purification and characterization of recombinant, full-length human claudin-1."
Bonander N., Jamshad M., Oberthuer D., Clare M., Barwell J., Hu K., Farquhar M.J., Stamataki Z., Harris H.J., Dierks K., Dafforn T.R., Betzel C., McKeating J.A., Bill R.M.
PLoS ONE 8:E64517-E64517(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, SUBUNIT.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF101051 mRNA. Translation: AAD16433.1.
AF115546 mRNA. Translation: AAD22962.1.
AF134160 mRNA. Translation: AAF61393.1.
AF260406 expand/collapse EMBL AC list , AF260403, AF260404, AF260405 Genomic DNA. Translation: AAK20945.1.
AY358652 mRNA. Translation: AAQ89015.1.
CR457138 mRNA. Translation: CAG33419.1.
BC012471 mRNA. Translation: AAH12471.1.
CCDSCCDS3295.1.
RefSeqNP_066924.1. NM_021101.4.
UniGeneHs.439060.

3D structure databases

ProteinModelPortalO95832.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114533. 8 interactions.
IntActO95832. 3 interactions.
MINTMINT-5002336.
STRING9606.ENSP00000295522.

PTM databases

PhosphoSiteO95832.

Proteomic databases

MaxQBO95832.
PaxDbO95832.
PRIDEO95832.

Protocols and materials databases

DNASU9076.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295522; ENSP00000295522; ENSG00000163347.
GeneID9076.
KEGGhsa:9076.
UCSCuc003fsh.3. human.

Organism-specific databases

CTD9076.
GeneCardsGC03M190023.
HGNCHGNC:2032. CLDN1.
HPACAB002602.
MIM603718. gene.
607626. phenotype.
neXtProtNX_O95832.
Orphanet59303. Ichthyosis - hypotrichosis - sclerosing cholangitis.
PharmGKBPA26557.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG47316.
HOGENOMHOG000220937.
HOVERGENHBG000643.
InParanoidO95832.
KOK06087.
OMAFVICILC.
OrthoDBEOG76HQ2T.
PhylomeDBO95832.
TreeFamTF331936.

Enzyme and pathway databases

ReactomeREACT_111155. Cell-Cell communication.

Gene expression databases

ArrayExpressO95832.
BgeeO95832.
CleanExHS_CLDN1.
GenevestigatorO95832.

Family and domain databases

InterProIPR006187. Claudin.
IPR003548. Claudin1.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERPTHR12002. PTHR12002. 1 hit.
PfamPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSPR01077. CLAUDIN.
PR01377. CLAUDIN1.
PROSITEPS01346. CLAUDIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCLDN1. human.
GeneWikiCLDN1.
GenomeRNAi9076.
NextBio34009.
PROO95832.
SOURCESearch...

Entry information

Entry nameCLD1_HUMAN
AccessionPrimary (citable) accession number: O95832
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: July 9, 2014
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM