MED14

Description

The MED14 (mediator complex subunit 14) is a protein-coding gene located on chromosome X.

MED14, encoded by the MED14 gene in humans, is an enzyme involved in the activation of gene transcription. This process is a multistep event initiated by factors that recognize specific enhancer sites in DNA. These factors collaborate with co-activators to direct the initiation of transcription by the RNA polymerase II machinery. MED14 is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, alongside TFIID, is essential for efficient activation by SP1. It is also a part of other multisubunit complexes, such as thyroid hormone receptor-(TR-) associated proteins, that interact with TR and facilitate its function on DNA templates in conjunction with initiation factors and cofactors. MED14 contains a bipartite nuclear localization signal. Importantly, this gene is known to escape chromosome X-inactivation. MED14 has been shown to interact with various proteins including PPARGC1A, Estrogen receptor alpha, STAT2, Cyclin-dependent kinase 8, Glucocorticoid receptor, and Hepatocyte nuclear factor 4 alpha.

MED14 is a component of the Mediator complex, a coactivator essential for the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator acts as a bridge, relaying information from gene-specific regulatory proteins to the core RNA polymerase II transcription machinery. It is recruited to promoters by direct interactions with regulatory proteins, facilitating the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.

MED14 is also known as CRSP150, CRSP2, CSRP, CXorf4, DRIP150, EXLM1, RGR1, TRAP170.

Associated Diseases

WES Whole Exome Sequencing