MED16
entrez
10025
canonical
uniprot
Q9Y2X0
canonical
ensembl
ENSG00000175221
resolver
ensp
ENSP00000325612
resolver
genesymbol
MED16
resolver
genesymbol_syn
DRIP92
resolver
genesymbol_syn
THRAP5
resolver
hgnc
HGNC:17556
resolver
uniprot
Q6PJT2
resolver
uniprot
Q96AD4
resolver
uniprot
Q96I35
resolver
uniprot
Q9Y652
resolver
uniprot_entry
MED16_HUMAN
resolver
uniprot_sec
Q6PJT2
resolver
uniprot_sec
Q96AD4
resolver
uniprot_sec
Q96I35
resolver
uniprot_sec
Q9Y652
resolver
amino_acid_sequence
MCDLRRPAAGGMMDLAYVCEWEKWSKSTHCPSVPLACAWSCRNLIAFTMDLRSDDQDLTRMIHILDTEHPWDLHSIPSEHHEAITCLEWDQSGSRLLSADADGQIKCWSMADHLANSWESSVGSLVEGDPIVALSWLHNGVKLALHVEKSGASSFGEKFSRVKFSPSLTLFGGKPMEGWIAVTVSGLVTVSLLKPSGQVLTSTESLCRLRGRVALADIAFTGGGNIVVATADGSSASPVQFYKVCVSVVSEKCRIDTEILPSLFMRCTTDLNRKDKFPAITHLKFLARDMSEQVLLCASSQTSSIVECWSLRKEGLPVNNIFQQISPVVGDKQPTILKWRILSATNDLDRVSAVALPKLPISLTNTDLKVASDTQFYPGLGLALAFHDGSVHIVHRLSLQTMAVFYSSAAPRPVDEPAMKRPRTAGPAVHLKAMQLSWTSLALVGIDSHGKLSVLRLSPSMGHPLEVGLALRHLLFLLEYCMVTGYDWWDILLHVQPSMVQSLVEKLHEEYTRQTAALQQVLSTRILAMKASLCKLSPCTVTRVCDYHTKLFLIAISSTLKSLLRPHFLNTPDKSPGDRLTEICTKITDVDIDKVMINLKTEEFVLDMNTLQALQQLLQWVGDFVLYLLASLPNQGSLLRPGHSFLRDGTSLGMLRELMVVIRIWGLLKPSCLPVYTATSDTQDSMSLLFRLLTKLWICCRDEGPASEPDEALVDECCLLPSQLLIPSLDWLPASDGLVSRLQPKQPLRLQFGRAPTLPGSAATLQLDGLARAPGQPKIDHLRRLHLGACPTEECKACTRCGCVTMLKSPNRTTAVKQWEQRWIKNCLAVEGRGPDACVTSRASEEAPAFVQLGPQSTHHSPRTPRSLDHLHPEDRP
uniprot
proteins
disease_involvement
DISEASE: Guillouet-Gordon syndrome (GGNS) [MIM:621220]: An autosomal recessive disorder characterized by multiple congenital anomalies, including craniofacial defects, anomalies of the extremities and heart defects, in association with intellectual disability, speech delay, and/or motor delay of variable severity. Visual impairment and deafness are also frequent. {ECO:0000269|PubMed:40081376}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:10198638, ECO:0000269|PubMed:10235266}.
uniprot
proteins
mass_dalton
96793
uniprot
proteins
protein_family
Mediator complex subunit 16 family
uniprot
proteins
pubmed
10198638
uniprot
proteins
pubmed
10235266
uniprot
proteins
pubmed
15175163
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15989967
uniprot
proteins
pubmed
40081376
uniprot
proteins
sequence_length
877
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:40081376}.
uniprot
proteins