CDK8
entrez
1024
canonical
uniprot
P49336
canonical
ensembl
ENSG00000132964
resolver
ensp
ENSP00000370938
resolver
ensp
ENSP00000539785
resolver
genesymbol
CDK8
resolver
hgnc
HGNC:1779
resolver
uniprot
Q5VUF3
resolver
uniprot
Q6ISB5
resolver
uniprot_entry
CDK8_HUMAN
resolver
uniprot_sec
Q5VUF3
resolver
uniprot_sec
Q6ISB5
resolver
amino_acid_sequence
MDYDFKVKLSSERERVEDLFEYEGCKVGRGTYGHVYKAKRKDGKDDKDYALKQIEGTGISMSACREIALLRELKHPNVISLQKVFLSHADRKVWLLFDYAEHDLWHIIKFHRASKANKKPVQLPRGMVKSLLYQILDGIHYLHANWVLHRDLKPANILVMGEGPERGRVKIADMGFARLFNSPLKPLADLDPVVVTFWYRAPELLLGARHYTKAIDIWAIGCIFAELLTSEPIFHCRQEDIKTSNPYHHDQLDRIFNVMGFPADKDWEDIKKMPEHSTLMKDFRRNTYTNCSLIKYMEKHKVKPDSKAFHLLQKLLTMDPIKRITSEQAMQDPYFLEDPLPTSDVFAGCQIPYPKREFLTEEEPDDKGDKKNQQQQQGNNHTNGTGHPGNQDSSHTQGPPLKKVRVVPPTTTSGGLIMTSDYQRSNPHAAYPNPGPSTSQPQSSMGYSATSQQPPQYSHQTHRY
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748]: An autosomal dominant neurodevelopmental disorder with onset in infancy. IDDHBA is characterized by hypotonia, global developmental delay, learning disability, and behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder. Additional variable features may include non-specific facial dysmorphism, congenital heart defects, ocular anomalies, and poor feeding. {ECO:0000269|PubMed:30905399}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.22
uniprot
proteins
ec_number
2.7.11.23
uniprot
proteins
function
FUNCTION: Component of the Mediator complex, a coactivator involved in regulated gene 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. Phosphorylates the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAp II), which may inhibit the formation of a transcription initiation complex. Phosphorylates CCNH leading to down-regulation of the TFIIH complex and transcriptional repression (PubMed:10993082). Recruited through interaction with MAML1 to hyperphosphorylate the intracellular domain of NOTCH, leading to its degradation (PubMed:15546612). Selectively regulates the interferon response by phosphorylating the transcription factor STAT1 transactivation domain (By similarity). {ECO:0000250|UniProtKB:Q8R3L8, ECO:0000269|PubMed:10993082, ECO:0000269|PubMed:15546612, ECO:0000269|PubMed:30905399}.
uniprot
proteins
mass_dalton
53284
uniprot
proteins
mutagenesis
MUTAGEN 173; /note="D->A: Abrogates kinase activity and TFIIH-dependent transcriptional repression."; /evidence="ECO:0000269|PubMed:10993082, ECO:0000269|PubMed:30905399
uniprot
proteins
protein_family
CDC2/CDKX subfamily
uniprot
proteins
protein_family
CMGC Ser/Thr protein kinase family
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
10024883
uniprot
proteins
pubmed
10993082
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15175163
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15546612
uniprot
proteins
pubmed
15989967
uniprot
proteins
pubmed
17000779
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
21806996
uniprot
proteins
pubmed
30905399
uniprot
proteins
pubmed
7568034
uniprot
proteins
pubmed
9734358
uniprot
proteins
sequence_length
464
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins