Aliases for TJP1 Gene
External Ids for TJP1 Gene
Previous GeneCards Identifiers for TJP1 Gene
This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
GeneCards Summary for TJP1 Gene
TJP1 (Tight Junction Protein 1) is a Protein Coding gene. Diseases associated with TJP1 include Celiac Disease and Congenital Nephrotic Syndrome Finnish Type. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Nephrin/Neph1 signaling in the kidney podocyte. 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.