MBRL

Official Full Name

transmembrane protein 259

Organism

Homo sapiens

GeneID

91304

Background

Predicted to be involved in positive regulation of ERAD pathway and response to endoplasmic reticulum stress. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Feb 2025]

Synonyms

TMEM259; MBRL; ASBABP1; C19orf6; R32184_3; MEMBRALIN;

Cat.No.	Product Name	Price

Cat.No.	Product Name	Price

Cat.No.	Product Name	Price

Cat.No.	Product Name	Price

Detailed Information

The human membralin (Mbrl) gene is located on chromosome 19, which has a high density GC and a rare repetitive DNA sequence. Mbrl is a highly conserved gene in the evolution of multiple species and is currently considered to be a tumor-associated marker.

Zhu et al. have shown that Mbrl is essential for maintaining the pathological state of Alzheimer's disease. Mbrl regulates the molecular machinery that produces beta-amyloid (Aβ) in cells – gamma secretase. If a molecule that regulates Mbrl can be found, or if it is determined to function in a cellular protein processing machinery, it may be able to inhibit neurodegeneration. Zhu et al. demonstrated that the Mbrl function is part of the ERAD system through proteomics, microscopic analysis and functional analysis. It was later discovered that the Mbrl-dependent ERAD decomposes a protein that is part of the γ-secretase complex, and that reducing Mbrl in Alzheimer's model mice exacerbates neurodegeneration and memory problems.

Figure 1. A schematic model of the ERAD component Mbrl in regulating nicastrin and Aβ generation. （Zhu, et al. 2017）

Expression of Mbrl

The current role of Mbrl is unclear, and it is expressed differently in different tissues. Andersson et al. found two splice variants in adult rat brain tissue, namely Mbrl-1 and Mbrl-2. In high-density neuronal regions, such as the cerebellar granule layer, the hippocampal CA1 and CA3 regions, and the dentate gyrus are highly expressed. In addition, these two splice variants are present in some non-neural tissues such as the choroid plexus, the renal medulla and the spleen. No expression was found in the thymus, lungs, heart, skeletal muscles and tongue. The human Mbrl gene has no homology with other human genes, but homologous genes or similar proteins can be found in other species. Mbrl is not closely related to other genes in the genome, suggesting that Mbrl may represent the only member of the family of proteins.

Mbrl and Tumor

The expression of Mbrl in different tissues and different parts of the same tissue suggests that it may be a new tumor marker. Mbrl is a highly conserved gene in the evolution of many species, and abnormal proliferation of Mbrl may lead to a variety of tumors. Studies have shown that long forms of Mbrl-1 and short forms of Mbrl-3 are found in ovarian cancer cell lines. The expression of Mbrl in normal ovarian epithelial and serous ovarian cancer was analyzed by PCR, in situ hybridization and Western blotting. It was found that Mbrl was highly expressed in tumor tissues of serous ovarian cancer, and normal ovarian epithelium was not expressed. The expression of serous ovarian cancer was significantly higher than that of solid ovarian cancer, but no hybridization signal was detected in stromal cells, endothelial cells and lymphocytes. The expression of Mbrl is positively correlated with the proliferation, invasion and response of chemotherapeutic drugs in serous ovarian cancer cells, and is a new tumor-associated marker for serous ovarian cancer.

In addition, Mbrl has also been found in breast, pancreatic and colorectal cancers. Studies have shown that Mbrl protein expression shows a strong-weak-strong change trend in each point of gastric cancer, indicating that Mbrl is involved in the invasion and metastasis of gastric cancer. These results suggest that Mbrl may be a tumor marker associated with tumor cell proliferation, invasion, and response to chemotherapy. Different Mbrl splices expressed differently in different tumors, and the same splice was also expressed differently in different tumors of the same tissue, suggesting that Mbrl is tissue-selectively expressed.

References:

Zhu, B. , Jiang, L. L. , Huang, T. , Zhao, Y. , Liu, T. , & Zhong, Y. , et al. (2017). Er-associated degradation regulates alzheimer’s amyloid pathology and memory function by modulating γ-secretase activity. Nature Communications, 8(1), 1472.
Bo, Y. , Mingliang, Q. , Rengang, W. , Chatterton, J. E. , Xiao-Bo, L. , & Bing, Z. , et al. (2015). The critical role of membralin in postnatal motor neuron survival and disease. eLife, 4.
Chen, Y. C. , Davidson, B. , Cheng, C. C. , Maitra, A. , Ii, R. L. G. , & Hruban, R. H. , et al. (2005). Identification and characterization of membralin, a novel tumor-associated gene, in ovarian carcinoma. Biochimica et Biophysica Acta, 1730(2), 96-102.

Quick Inquiry

Interested in learning more?

Contact us today for a free consultation with the scientific team and discover how Creative Biogene can be a valuable resource and partner for your organization.

Request a quote today!

Inquiry