MGP Database

MGP003900

UniProt Annotations

Entry Information
Gene Namemediator complex subunit 23
Protein EntryMED23_HUMAN
UniProt IDQ9ULK4
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9ULK4-1; Sequence=Displayed; Name=2; IsoId=Q9ULK4-2; Sequence=VSP_004034, VSP_004036, VSP_004037; Name=3; IsoId=Q9ULK4-3; Sequence=VSP_004034, VSP_004035; Name=4; IsoId=Q9ULK4-4; Sequence=VSP_004035; Name=5; IsoId=Q9ULK4-5; Sequence=VSP_028380; Name=6; IsoId=Q9ULK4-6; Sequence=VSP_047860, VSP_047861;
DiseaseMental retardation, autosomal recessive 18 (MRT18) [MIM:614249]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21868677}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionRequired for transcriptional activation subsequent to the assembly of the preinitiation complex (By similarity). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Required for transcriptional activation by adenovirus E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling. {ECO:0000250, ECO:0000269|PubMed:10353252, ECO:0000269|PubMed:14759369, ECO:0000269|PubMed:16595664}.
InteractionO60244:MED14; NbExp=2; IntAct=EBI-311161, EBI-394489; Q9Y2X0:MED16; NbExp=2; IntAct=EBI-311161, EBI-394541;
Sequence CautionSequence=AAD12724.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAD31729.1; Type=Frameshift; Positions=945, 950; Evidence={ECO:0000305}; Sequence=BAA86530.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the Mediator complex subunit 23 family. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000305}.
SubunitInteracts with ELK1 (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with CEBPB, CTNNB1, and GLI3. Interacts with the adenovirus E1A protein. {ECO:0000250, ECO:0000269|PubMed:10235266, ECO:0000269|PubMed:10235267, ECO:0000269|PubMed:10353252, ECO:0000269|PubMed:10993082, ECO:0000269|PubMed:11867769, ECO:0000269|PubMed:14759369, ECO:0000269|PubMed:15175163, ECO:0000269|PubMed:15989967, ECO:0000269|PubMed:16595664, ECO:0000269|PubMed:17000779, ECO:0000269|PubMed:9989412}.
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