Aliases for TJP1 Gene
External Ids for TJP1 Gene
Previous GeneCards Identifiers for TJP1 Gene
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. [provided by RefSeq, Aug 2017]
GeneCards Summary for TJP1 Gene
TJP1 (Tight Junction Protein 1) is a Protein Coding gene. Diseases associated with TJP1 include Nephrotic Syndrome, Type 1 and Celiac Disease 1. Among its related pathways are PAK Pathway and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and protein C-terminus binding. An important paralog of this gene is TJP2.
UniProtKB/Swiss-Prot for TJP1 Gene
The N-terminal may be involved in transducing a signal required for tight junction assembly, while the C-terminal may have specific properties of tight junctions. The alpha domain might be involved in stabilizing junctions. Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of migrating cells.