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HECT E3 ubiquitin ligase is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4.
This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical memb
LAMP3 might change the lysosome function after the transfer of peptide MHC class II molecules to the surface of dendritic cells. It's over expression is associated with an enhanced metastatic potential and may be a prognostic factor for cervical cancer. Expressed in lymphoid organs and dendritic cells and lung. Up regulated in carcinomas of the esophagus, colon, rectum, ureter, stomach, breast, fallopian tube, thyroid and parotid tissues.
Inhibition of protein phosphatase 2A (PP2A) activity has been identified as a prerequisite for the transformation of human cells. The protein, designated Cancerous Inhibitor of PP2A (CIP2A, p90 Autoantigen), interacts directly with the oncogenic transcription factor c-Myc, inhibits PP2A activity toward c-Myc serine 62 (S62), and thereby prevents c-Myc proteolytic degradation. In addition to its function in c-Myc stabilization, p90 Autoantigen promotes anchorage-independent cell growth and in
MLC1 is a 377 amino acid multi-pass membrane protein that may serve as a non-selective neuronal cation channel in brain. Mutant MLC1 proteins that show impaired folding have been corrected in vitro with the addition of a Ca(2+)-ATPase inhibitor, curcumin. Mutations in the gene encoding MLC1 is the cause of megalencephalic leukoencephalopathy with subcortical cysts, also known as van der Knaap disease, a rare syndrome characterized early in life by progressive brain destruction causing mental re
PTBP-2 is a member of the polypyrimidine tract binding family of proteins. Predominantly expressed in brain, but also found in heart and skeletal muscle, PTBP-2 localizes to the nucleus and contains four RRM (RNA recognition motif) domains. PTBP-2 functions as an RNA-binding protein associated in a complex that is involved in the regulation of exon splicing and the stabilization of mRNAs in the cytoplasm. Six isoforms exist for PTBP-2 due to alternative splicing events. Isoforms 1 and 2 (al