Gene: TJP1

Alternate names for this Gene: ZO-1

Gene Summary: This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family of proteins, and acts as a tight junction adaptor protein that also regulates adherens junctions. Tight junctions regulate the movement of ions and macromolecules between endothelial and epithelial cells. The multidomain structure of this scaffold protein, including a postsynaptic density 95/disc-large/zona occludens (PDZ) domain, a Src homology (SH3) domain, a guanylate kinase (GuK) domain and unique (U) motifs all help to co-ordinate binding of transmembrane proteins, cytosolic proteins, and F-actin, which are required for tight junction function. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 15

Location in Chromosome : 15q13.1

Description of this Gene: tight junction protein 1

Type of Gene: protein-coding

rs785422 in TJP1 gene and Central corneal thickness PMID 30894546 2019 Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.

PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs785422 in TJP1 gene and Corneal Topography PMID 23291589 2013 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

rs11853442 in TJP1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.