Jump to content

CLDN1

From Wikipedia, the free encyclopedia
CLDN1
Identifiers
AliasesCLDN1, CLD1, ILVASC, SEMP1, claudin 1
External IDsOMIM: 603718; MGI: 1276109; HomoloGene: 9620; GeneCards: CLDN1; OMA:CLDN1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021101

NM_016674

RefSeq (protein)

NP_066924

NP_057883

Location (UCSC)Chr 3: 190.31 – 190.32 MbChr 16: 26.18 – 26.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Claudin-1 is a protein that in humans is encoded by the CLDN1 gene.[5][6] It belongs to the group of claudins.

Function

[edit]

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 composed 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.[7]

Interactions

[edit]

CLDN1 has been shown to interact with CLDN5[8] and CLDN3.[8]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163347Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022512Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Halford S, Spencer P, Greenwood J, Winton H, Hunt DM, Adamson P (Jun 2000). "Assignment of claudin-1 (CLDN1) to human chromosome 3q28-->q29 with somatic cell hybrids". Cytogenet. Cell Genet. 88 (3–4): 217. doi:10.1159/000015553. PMID 10828592. S2CID 8896678.
  6. ^ Morita K, Furuse M, Fujimoto K, Tsukita S (Mar 1999). "Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands". Proc. Natl. Acad. Sci. U.S.A. 96 (2): 511–6. Bibcode:1999PNAS...96..511M. doi:10.1073/pnas.96.2.511. PMC 15167. PMID 9892664.
  7. ^ "Entrez Gene: CLDN1 claudin 1".
  8. ^ a b Coyne CB, Gambling TM, Boucher RC, Carson JL, Johnson LG (Nov 2003). "Role of claudin interactions in airway tight junctional permeability". Am. J. Physiol. Lung Cell Mol. Physiol. 285 (5): L1166-78. doi:10.1152/ajplung.00182.2003. PMID 12909588.
[edit]

Further reading

[edit]