MED27
entrez
9442
canonical
uniprot
Q6P2C8
canonical
ensembl
ENSG00000160563
resolver
ensp
ENSP00000292035
resolver
ensp
ENSP00000349530
resolver
ensp
ENSP00000477136
resolver
ensp
ENSP00000567431
resolver
ensp
ENSP00000761876
resolver
genesymbol
MED27
resolver
genesymbol_syn
CRSP34
resolver
genesymbol_syn
CRSP8
resolver
hgnc
HGNC:2377
resolver
uniprot
O95401
resolver
uniprot
Q4F964
resolver
uniprot
Q5VTA4
resolver
uniprot
Q5VTA5
resolver
uniprot
Q9BU57
resolver
uniprot
Q9NYR4
resolver
uniprot
V9GYV9
resolver
uniprot_entry
MED27_HUMAN
resolver
uniprot_sec
O95401
resolver
uniprot_sec
Q4F964
resolver
uniprot_sec
Q5VTA4
resolver
uniprot_sec
Q5VTA5
resolver
uniprot_sec
Q9BU57
resolver
uniprot_sec
Q9NYR4
resolver
uniprot_sec
V9GYV9
resolver
amino_acid_sequence
MADVINVSVNLEAFSQAISAIQALRSSVSRVFDCLKDGMRNKETLEGREKAFIAHFQDNLHSVNRDLNELERLSNLVGKPSENHPLHNSGLLSLDPVQDKTPLYSQLLQAYKWSNKLQYHAGLASGLLNQQSLKRSANQMGVSAKRRPKAQPTTLVLPPQYVDDVISRIDRMFPEMSIHLSRPNGTSAMLLVTLGKVLKVIVVMRSLFIDRTIVKGYNENVYTEDGKLDIWSKSNYQVFQKVTDHATTALLHYQLPQMPDVVVRSFMTWLRSYIKLFQAPCQRCGKFLQDGLPPTWRDFRTLEAFHDTCRQ
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar atrophy (NEDSCAC) [MIM:619286]: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and poor or absent speech. More severely affected individuals do not achieve independent ambulation, whereas others develop some speech and can walk, or show regression later in childhood. Additional features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures. Brain imaging usually shows cerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and hypomyelination. {ECO:0000269|PubMed:33443317}. 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 preinitiation complex with RNA polymerase II and the general transcription factors. {ECO:0000269|PubMed:10882111, ECO:0000269|PubMed:9989412}.
uniprot
proteins
mass_dalton
35432
uniprot
proteins
protein_family
Mediator complex subunit 27 family
uniprot
proteins
pubmed
10882111
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15175163
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15989967
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
33443317
uniprot
proteins
pubmed
8889548
uniprot
proteins
pubmed
9989412
uniprot
proteins
sequence_length
311
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10882111, ECO:0000269|PubMed:9989412}.
uniprot
proteins