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Gene Report
Basic Info
| Approved Symbol | TJP1 |
|---|---|
| Symbol Alias | ZO-1, MGC133289, DKFZp686M05161 |
| Approved Name | tight junction protein 1 (zona occludens 1) |
| Name Alias | zona occludens 1, "tight junction protein ZO-1" |
| Location | 15q13 |
| Position | chr15:29991571-30248497, - |
| External Links |
HGNC: 11827 Entrez Gene: 7082 Ensembl: ENSG00000104067 UCSC: uc001zcr.2 |
| No. of Studies | 0 (significant: 0; non-significant: 0; trend: 0) |
| Source | Mapped by CNV; Mapped by significant region |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 3)
| ID | Location | Size | Band | Type | Inheritance |
|---|---|---|---|---|---|
| CNV_Williams[2010]_51 | chr15:27000239-28153539 (NCBI Build 36.1 (hg18)) | 1153301 | 15q13.1-15q13.2 | Gain | |
| CNV_Williams[2010]_47 | chr15:27013177-28153539 (NCBI Build 36.1 (hg18)) | 1140363 | 15q13.1-15q13.2 | Gain | |
| CNV_Jarick[2012]_29 | chr15:27216380-28153539 (NCBI36 / hg18) | 937160 | 15q13.1-15q13.2 | dup |
Gene related other variant (count: 0)
Gene related regions (count: 1)
| Region Name | Position | No. of Studies (significant/non-significant/trend)  |
|---|---|---|
| 15q11.2-13.3 | chr15:20700000-33600000 | 1 (1/0/0) |
Gene related GO terms (count: 30)
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 30)
Gene related KEGG pathways (count: 5)
| ID | Name | No. of Genes in ADHDgene | Brief Description |
|---|---|---|---|
| hsa05120 | Epithelial cell signaling in Helicobacter pylori infection | 16 | Two major virulence factors of H. pylori are the vacuolating...... Two major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA). More... |
| hsa05110 | Vibrio cholerae infection | 10 | Cholera toxin (CTX) is one of the main virulence factors of ...... Cholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, the entire CTX complex is carried from plasma membrane (PM) to endoplasmic reticulum (ER). In the ER, the A-chain (CTXA) is recognized by protein disulfide isomerase (PDI), unfolded, and delivered to the membrane where the membrane-associated ER-oxidase, Ero1, oxidizes PDI to release the CTXA into the protein-conducting channel, Sec61. CTXA is then retro-translocated to the cytosol and induces water and electrolyte secretion by increasing cAMP levels via adenylate cyclase (AC) to exert toxicity. More... |
| hsa04520 | Adherens junction | 14 | Cell-cell adherens junctions (AJs), the most common type of ...... Cell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation. At AJs, E-cadherin serves as an essential cell adhesion molecules (CAMs). The cytoplasmic tail binds beta-catenin, which in turn binds alpha-catenin. Alpha-catenin is associated with F-actin bundles directly and indirectly. The integrity of the cadherin-catenin complex is negatively regulated by phosphorylation of beta-catenin by receptor tyrosine kinases (RTKs) and cytoplasmic tyrosine kinases (Fer, Fyn, Yes, and Src), which leads to dissociation of the cadherin-catenin complex. Integrity of this complex is positively regulated by beta -catenin phosphorylation by casein kinase II, and dephosphorylation by protein tyrosine phosphatases. Changes in the phosphorylation state of beta-catenin affect cell-cell adhesion, cell migration and the level of signaling beta-catenin. Wnt signaling acts as a positive regulator of beta-catenin by inhibiting beta-catenin degradation, which stabilizes beta-catenin, and causes its accumulation. Cadherin may acts as a negative regulator of signaling beta-catenin as it binds beta-catenin at the cell surface and thereby sequesters it from the nucleus. Nectins also function as CAMs at AJs, but are more highly concentrated at AJs than E-cadherin. Nectins transduce signals through Cdc42 and Rac, which reorganize the actin cytoskeleton, regulate the formation of AJs, and strengthen cell-cell adhesion. More... |
| hsa04530 | Tight junction | 18 | Epithelial tight junctions (TJs) are composed of at least th...... Epithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of many different proteins that form large complexes. The transmembrane proteins mediate cell adhesion and are thought to constitute the intramembrane and paracellular diffusion barriers. The cytoplasmic 'plaque' contains three major multi-protein complexes consisting largely of scaffolding proteins, the ZO protein complex, the CRB3-Pals1-PATJ complex and the PAR-3-aPKC-PAR-6 complex. The ZO protein complex appears to organize the transmembrane proteins and couple them to other cytoplasmic proteins and to actin microfilaments. Two evolutionarily conserved protein complexes, the CRB3 and PAR complexes are involved in the establishment and maintenance of epithelial cell polarity. Besides these three protein complexes which seem to be constitutively associated at TJs, a number of proteins with different functions has been identified at TJs. These include additional scaffolding proteins like MUPP1 and MAGI-1, adaptor proteins, transcription regulators and RNA processing factors, regulatory proteins like small GTPases and G-proteins, kinases and phosphatases, and heat shock proteins. These are proposed to be involved in junction assembly, barrier regulation, gene transcription, and perhaps other, presently undefined pathways. More... |
| hsa04540 | Gap junction | 27 | Gap junctions contain intercellular channels that allow dire...... Gap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels', each containing six connexins, contributed by each neighboring cell. These channels permit the direct transfer of small molecules including ions, amino acids, nucleotides, second messengers and other metabolites between adjacent cells. Gap junctional communication is essential for many physiological events, including embryonic development, electrical coupling, metabolic transport, apoptosis, and tissue homeostasis. Communication through Gap Junction is sensitive to a variety of stimuli, including changes in the level of intracellular Ca2+, pH, transjunctional applied voltage and phosphorylation/dephosphorylation processes. This figure represents the possible activation routes of different protein kinases involved in Cx43 and Cx36 phosphorylation. More... |
Genes shared at least 5 GO terms with TJP1 (count: 61)
Genes shared at least 2 KEGG pathways with TJP1 (count: 15)
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Region: chr15:29991571..30248497 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014