Eukaryotic translation initiation factor 4E-binding protein 1(4EBP1),is a member of 4EBPs family,which regulate the translation of a subset of mRNA by competing with eIF4G for binding to eIF4E,thus preventing the assembly of the eIF4F complex. The eIF4F facilitates the recruitment of other translation initiation factors to form the complex and then initiates cap-dependent translation.4EBP1 also mediates the regulation of protein translation by growth factors,hormones and other stimuli that signal through the MAP kinase and mTORC1 pathways. There are three forms of 4EBP1,alpha,beta and gamma.
This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation.
This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms.
This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene.
Trophoblast glycoprotein (encoded by 5T4) is a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. This protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers.
Alpha 1-antichymotrypsin (AACT), also known as Human SerpinA3, is a member of the serine protease inhibitor class, and is a plasma alpha globulin glycoprotein which increases in the blood during the inflammatory process. SerpinA3, is also an inhibitor of neutrophil cathepsin G, mast cell chymases and pancreatic chymotrypsin. SerpinA3 is produced primarily in the liver, and is identified as an acute-phase inflammatory protein. SerpinA3 deficiency has been associated with liver disease. SerpinA3 has also been implicated in the pathology of a number of devastating human diseases including chronic obstructive pulmonary disease (COPD), Parkinson's disease (PD), Alzheimer's disease (AD), Stroke, Cystic Fibrosis, Cerebral Haemorrhage and Multiple System Atrophy.
AARSD1 belongs to the class-II aminoacyl-tRNA synthetase family, Alax-L subfamily. AARSD1 binds 1 zinc ion per subunit functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala). Four transcript variants have been described for AARSD1: NM_25267.3, NM_113642.2, NM_1142653.1 and NM_1142654.1. It has been determined that the latter two variants represent a distinct upstream locus, which is now represented by GeneID:1885848 (PTGES3L), while the former two variants represent readthrough transcripts between PTGES3L and this locus (AARSD1). The readthrough locus (PTGES3L-AARSD1) is now represented by GeneID:188585.
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