MASH1, also known as achaete-scute homolog 1 (ASCL1), is a basic helix-loop-helix (BHLH) transcription factor which plays an essential role in the differentiation of neuroendocrine cells and neural tissues. MASH1 directly binds the E-box motif (5'-CANNTG-3') on promoters, with dimerization with other BHLH proteins required for efficient DNA binding. Acting as a pioneer transcription factor, MASH1 also accesses closed chromatin, allowing other factors to promote transcription of neuronal genes and activate neural pathways. Research studies have shown that knockdown of the MASH1 gene leads to inhibition of growth and induction of apoptosis in SCLC cells in vitro. Additionally, MASH1 is overexpressed in both classic SCLC as well as NSCLC with neuroendocrine features, suggesting its role in the pathogenesis of those malignancies. MASH1 plays a crucial role in promoting SCLC carcinogenesis by upregulating the expression of DLL3, a nonfunctioning Notch ligand, leading to inhibition of the Notch signaling pathway.
The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 4. Alternative splicing results in multiple transcript variants.
MBD2, also named as DMTase, binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. MBD2 binds hemi-methylated DNA as well. It recruits histone deacetylases and DNA methyltransferases. MBD2 acts as transcriptional repressor and plays a role in gene silencing.
MBL2 belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and Nacetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases.
This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing.
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined.
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with mCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7.
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