MED11
entrez
400569
canonical
uniprot
Q9P086
canonical
ensembl
ENSG00000161920
resolver
ensp
ENSP00000293777
resolver
ensp
ENSP00000460400
resolver
enst
ENST00000293777
resolver
enst
ENST00000575284
resolver
genesymbol
MED11
resolver
hgnc
HGNC:32687
resolver
uniprot
I3L3E8
resolver
uniprot
Q6NS89
resolver
uniprot_entry
I3L3E8_HUMAN
resolver
uniprot_entry
MED11_HUMAN
resolver
uniprot_sec
Q6NS89
resolver
amino_acid_sequence
MATYSLANERLRALEDIEREIGAILQNAGTVILELSKEKTNERLLDRQAAAFTASVQHVEAELSAQIRYLTQVATGQPHEGSSYSSRKDCQMALKRVDYARLKLSDVARTCEQMLEN
uniprot
proteins
disease_involvement
DISEASE: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (NDDRSB) [MIM:620327]: An autosomal recessive disorder characterized by congenital microcephaly, profound global developmental delay, exaggerated startle response, refractory myoclonic seizures, progressive widespread neurodegeneration, and premature death. {ECO:0000269|PubMed:36001086}. Note=The disease may be 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 pre-initiation complex with RNA polymerase II and the general transcription factors. {ECO:0000269|PubMed:15175163, ECO:0000269|PubMed:15989967}.
uniprot
proteins
mass_dalton
13129
uniprot
proteins
protein_family
Mediator complex subunit 11 family
uniprot
proteins
pubmed
12584197
uniprot
proteins
pubmed
15175163
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15989967
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
36001086
uniprot
proteins
sequence_length
117
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins