MED17
entrez
9440
canonical
uniprot
Q9NVC6
canonical
ensembl
ENSG00000042429
resolver
ensp
ENSP00000251871
resolver
genesymbol
MED17
resolver
genesymbol_syn
ARC77
resolver
genesymbol_syn
CRSP6
resolver
genesymbol_syn
DRIP77
resolver
genesymbol_syn
DRIP80
resolver
genesymbol_syn
TRAP80
resolver
hgnc
HGNC:2375
resolver
uniprot
B3KN07
resolver
uniprot
Q9HA81
resolver
uniprot
Q9UNP7
resolver
uniprot
Q9Y2W0
resolver
uniprot
Q9Y660
resolver
uniprot_entry
MED17_HUMAN
resolver
uniprot_sec
B3KN07
resolver
uniprot_sec
Q9HA81
resolver
uniprot_sec
Q9UNP7
resolver
uniprot_sec
Q9Y2W0
resolver
uniprot_sec
Q9Y660
resolver
amino_acid_sequence
MSGVRAVRISIESACEKQVHEVGLDGTETYLPPLSMSQNLARLAQRIDFSQGSGSEEEEAAGTEGDAQEWPGAGSSADQDDEEGVVKFQPSLWPWDSVRNNLRSALTEMCVLYDVLSIVRDKKFMTLDPVSQDALPPKQNPQTLQLISKKKSLAGAAQILLKGAERLTKSVTENQENKLQRDFNSELLRLRQHWKLRKVGDKILGDLSYRSAGSLFPHHGTFEVIKNTDLDLDKKIPEDYCPLDVQIPSDLEGSAYIKVSIQKQAPDIGDLGTVNLFKRPLPKSKPGSPHWQTKLEAAQNVLLCKEIFAQLSREAVQIKSQVPHIVVKNQIISQPFPSLQLSISLCHSSNDKKSQKFATEKQCPEDHLYVLEHNLHLLIREFHKQTLSSIMMPHPASAPFGHKRMRLSGPQAFDKNEINSLQSSEGLLEKIIKQAKHIFLRSRAAATIDSLASRIEDPQIQAHWSNINDVYESSVKVLITSQGYEQICKSIQLQLNIGVEQIRVVHRDGRVITLSYQEQELQDFLLSQMSQHQVHAVQQLAKVMGWQVLSFSNHVGLGPIESIGNASAITVASPSGDYAISVRNGPESGSKIMVQFPRNQCKDLPKSDVLQDNKWSHLRGPFKEVQWNKMEGRNFVYKMELLMSALSPCLL
uniprot
proteins
disease_involvement
DISEASE: Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA) [MIM:613668]: A disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth. {ECO:0000269|PubMed:20950787}. 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:16595664}.
uniprot
proteins
mass_dalton
72890
uniprot
proteins
protein_family
Mediator complex subunit 17 family
uniprot
proteins
pubmed
10198638
uniprot
proteins
pubmed
10235266
uniprot
proteins
pubmed
10235267
uniprot
proteins
pubmed
12509459
uniprot
proteins
pubmed
12584197
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15175163
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15989967
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16595664
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
20950787
uniprot
proteins
pubmed
9989412
uniprot
proteins
sequence_length
651
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins