This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells.
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier.
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females.
TRAP220/MED1 (Mediator complex subunit 1, TRIP2, Thyroid receptor-interacting protein 2) is a component of the Mediator complex, a coactivator involved in the regulated transcription of most genes transcribed by RNA polymerase II. MED1 functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. MED1 is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors.
This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II.
MEF2C is a member of the MEF2 (myocyte enhancer factor 2) family of transcription factors. In mammals, there are four MEF2C-related genes (MEF2A, MEF2B, MEF2C and MEF2D) that encode proteins that exhibit significant amino acid sequence similarity within their DNA binding domains and, to a lesser extent, throughout the rest of the proteins. The MEF2 family members were originally described as muscle specific DNA binding proteins that recognize MEF2 motifs found within the promoters of many muscle-specific genes. Recently, several groups have reported MEF2 binding activity and MEF2 proteins in a wide variety of cell types where these proteins appear to play an important role in growth factor- and stress-induced early gene responses.
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