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- Table of Contents
Facts about Tight junction protein ZO-3.
Binds and recruits PATJ to tight junctions in which it connects and stabilizes apical and lateral components of tight junctions (PubMed:16129888). Promotes cell-cycle development through the sequestration of cyclin D1 (CCND1) at tight junctions through mitosis which prevents CCND1 degradation through M-phase and enables S-phase transition (PubMed:21411630).
Human | |
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Gene Name: | TJP3 |
Uniprot: | O95049 |
Entrez: | 27134 |
Belongs to: |
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MAGUK family |
MGC119546; tight junction protein 3 (zona occludens 3); Tight junction protein 3; ZO-3; ZO3tight junction protein ZO-3; zona occludens 3; Zona occludens protein 3; Zonula occludens protein 3
Mass (kDA):
101.397 kDA
Human | |
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Location: | 19p13.3 |
Sequence: | 19; NC_000019.10 (3708384..3750813) |
Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, tight junction. Nucleus. Exhibits predominant nuclear expression in proliferating cells but is exclusively junctionally expressed after confluence is reached (PubMed:23608536). Shows an epithelial-specific tight junction localization in a TJP1/TJP2-dependent fashion (By similarity).
The TJP3 marker is a sensitive indicator for many disorders, including schizophrenia, cyststineuria, Timothy syndrome, and cyststineuria. The use of a biomarker to detect this protein can help with diagnosis and treatment. Many researchers have expressed concerns about its therapeutic use. This article aims at providing a better understanding and application of the TJP3 mark in human research.
TJP3 is a protein present in the human cell membrane. It links transmembrane protein tight junction proteins (TJPs), with the actin cytoskeleton. The tight junction restricts movement within the plasma membrane, and acts as a boundary between cells' apical domains and lateral domains. Tjp proteins promote cell cycle progression. They are responsible for sequestration of cyclin D1 (Ccnd1), a transcription factor involved in initiation and progression of M-phase and the establishment of TJs.
The Boster Bio Anti-Zonula Occludens Protein 3/TJP3 Marker is a high-affinity, human monoclonal antibody designed to detect the protein TJP3 in cells. It was validated using multiple samples (positive and negative) and shows high affinity and specificity. The company's unique approach to the development of high-quality antibodies allows them to provide researchers around the world with the most effective and sensitive ELISA kits.
Cystinuria is characterized by its genetic pattern which is autosomal residual. Recessive gene disorders are caused when there are two copies of the same altered gene from each parent. Although the full impact of the condition is unknown, carriers have slightly elevated lysine or cystine levels in their urine. Carriers can pass the altered genes to their future offspring at a 25% risk per pregnancy.
Cystinuria affects both male and female mice equally in terms of severity. However, cystine stone formation is less common in females than it is in males. This could be due to factors that prevent cystine crystal aggregation within the female body. Cystinuria can be genetic, but some studies also show a gender-specific variation in cystineuria. If this phenotype proves to be true, it could help researchers find the cause of cystinestones in dogs.
A genetic test can detect cystinuria in dogs by looking for a variant SLC3A1. Dogs with the variant SLC7A9 are not affected by cystinuria but they are considered carriers. The TJP3 marker is likely to be passed on to female dogs. Cystineuria 3 is an orrogen-dependent disease that affects only intact males.
A similar de novo mutation in Ca (V)1.2 causes Timothy syndrome, a genetic disorder. This mutation affects genes that regulate bone and brain development. It also impairs Ca(2+), ions' ability to enter or exit cells. Calcium atoms can accumulate at the cell door, preventing it from performing its normal functions. Unfortunately, Timothy syndrome symptoms can be fatal.
The study found that 16% had the mutant gene. However, it was not possible to study cardiac tissue. This finding may have implications for genetic counseling. Boster is currently the only confirmed case. This is a case of parental mosaicism. It is also a cause of many other medical problems. Genetic counseling may need improvement in the future.
Timothy syndrome can lead to sudden cardiac death, hypoglycemic episodes or small teeth. Other manifestations of the disease include myopia, baldness at birth, and a long QT interval. Timothy syndrome patients are often affected by ventricular bradycardias, ventricular tapycardias, and atrioventricular blocks.
Cystine is a common amino acid found in foods but it wasn’t recognized until 1899 as a protein. Cystine is found in human hair and skin at a range of 10-14%. William Hyde Wollaston discovered it first in 1810. Cysteine in urine is a sign of a defect in amino acids reabsorption. This defect is often accompanied high levels in cystine crystal excretion.
SynGAP is an important neuronal-signaling protein with wide effects. Two Syngap1 genes encode two different isoforms. The central part of SynGAP has 1,091 residues. It is identical for human as rat. This article summarizes some results from this study.
The SYNGAP1 gene encodes neuron-specific RasGTPase activating protein. It is essential for proper functioning of the synapse. Mutations in this gene could lead to epilepsy or intellectual disability. To learn more, visit Boster Bio's website or read our detailed technical report.
The authors also point out that human and mouse SynGAP isoforms differ in their expression profiles. SynGAP a1 is mainly found in the postsynaptic density, whereas SynGAP b is found in non-synaptic areas. This isoform specific regulation of small GTPases might be a result of differential SynGAP.
The LTP in the mutant mice was less than that of heterozygous SynGAP, but they had normal basal as well as LTD transmission. They had normal AMPA receptor function, but decreased LTP. These results suggest that SynGAP may play a role in the regulation of synaptic plasticity. Future research will however focus on SynGAP's involvement in controlling synapticplasticity.
PMID: 16129888 by Michel D., et al. PATJ connects and stabilizes apical and lateral components of tight junctions in human intestinal cells.
PMID: 18823282 by Aho S., et al. Characterization of the ubinuclein protein as a new member of the nuclear and adhesion complex components (NACos).