P4HB
GeneName
P4HB
Summary
P4HB, also known as p55, PDI, or p58, is a 57 kDa protein that functions primarily as a protein disulfide isomerase. It is predominantly located in the endoplasmic reticulum and is involved in the folding and maturation of proteins, particularly those that undergo oxidative folding. P4HB plays a crucial role in various cellular processes, including the cellular response to hypoxia and interleukin signaling. It is also implicated in the regulation of T cell migration and has activities related to actin and integrin binding. Additionally, P4HB is associated with extracellular structures such as exosomes and the extracellular matrix, contributing to cell adhesion and spreading.
Importance
P4HB is relevant to: - Protein folding and quality control in the endoplasmic reticulum, which is essential for maintaining cellular homeostasis - Immune responses, particularly through its role in T cell migration and interleukin-mediated signalling - Pathological conditions associated with oxidative stress and apoptosis, given its involvement in the regulation of intrinsic apoptotic pathways - Viral entry mechanisms, as it positively regulates the process by which viruses enter host cells - Tissue remodelling and repair processes due to its role in procollagen processing and extracellular matrix dynamics
Top Products
For researchers investigating P4HB, we recommend two excellent primary antibodies. The first is the well-cited Anti-P4HB antibody [RL90] (ab2792), which has garnered 247 citations, highlighting its reliability in various applications, including Western blotting (WB), immunocytochemistry (ICC), immunohistochemistry (IHC), and flow cytometry (FC). Additionally, we offer the recombinant antibody, Anti-P4HB antibody [EPR9499] (ab137110), which has been validated in knockout models, ensuring its effectiveness in research. This antibody is also suitable for WB, ICC, IHC, and FC, making it a versatile option for those requiring consistent performance across experiments. With 25 citations, it is gaining traction in the scientific community. The Anti-P4HB antibody [RL90] ELISA Kit (ab2792), with an impressive 247 citations, is an excellent option for researchers looking to accurately measure P4HB levels in their samples.
Abcam Product Citation Summary
The data indicates that P4HB is being studied in various contexts, particularly related to neurological conditions such as seizures and epilepsy. The use of different applications, including immunohistochemistry and western blotting, highlights the versatility of the antibodies in detecting P4HB across different species and experimental setups.
Abcam Product Citation Table
Function
This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations and following phosphorylation by FAM20C, functions as a chaperone that inhibits aggregation of misfolded proteins (PubMed:32149426). At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chaperones in the structural modification of the TG precursor in hormone biogenesis. Also acts as a structural subunit of various enzymes such as prolyl 4-hydroxylase and microsomal triacylglycerol transfer protein MTTP. Receptor for LGALS9; the interaction retains P4HB at the cell surface of Th2 T helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307).
Involvement in disease
Cole-Carpenter syndrome 1
CLCRP1
A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation of Ser-357 by FAM20C is induced by endoplasmic reticulum stress and results in a functional switch from oxidoreductase to molecular chaperone (PubMed:32149426). It also promotes interaction with ERN1 (PubMed:32149426).
Sequence Similarities
Belongs to the protein disulfide isomerase family.
Cellular localization
- Endoplasmic reticulum
- Endoplasmic reticulum lumen
- Melanosome
- Cell membrane
- Peripheral membrane protein
- Highly abundant. In some cell types, seems to be also secreted or associated with the plasma membrane, where it undergoes constant shedding and replacement from intracellular sources (Probable). Localizes near CD4-enriched regions on lymphoid cell surfaces (PubMed:11181151). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:10636893). Colocalizes with MTTP in the endoplasmic reticulum (PubMed:23475612).
Alternative names
ERBA2L, PDI, PDIA1, PO4DB, P4HB, Protein disulfide-isomerase, Cellular thyroid hormone-binding protein, Prolyl 4-hydroxylase subunit beta, p55