Homo sapiens Protein: MED17
Summary
InnateDB Protein IDBP-590895.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MED17
Protein Name mediator complex subunit 17
Synonyms CRSP6; CRSP77; DRIP80; TRAP80;
Species Homo sapiens
Ensembl Protein ENSP00000434459
InnateDB Gene IDBG-68107 (MED17)
Protein Structure
UniProt Annotation
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:0000269PubMed:16595664}.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations 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:0000269PubMed:20950787}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitous. {ECO:0000269PubMed:10198638}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 87 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 87 [view]
Protein-Protein 85 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001104 RNA polymerase II transcription cofactor activity
GO:0003712 transcription cofactor activity
GO:0003713 transcription coactivator activity
GO:0004872 receptor activity
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity
GO:0042809 vitamin D receptor binding
GO:0046966 thyroid hormone receptor binding
Biological Process
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0010467 gene expression
GO:0030518 intracellular steroid hormone receptor signaling pathway
GO:0030521 androgen receptor signaling pathway
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0016020 membrane
GO:0016592 mediator complex
Protein Structure and Domains
PDB ID
InterPro IPR019313 Mediator complex, subunit Med17
PFAM PF10156
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NVC6
PhosphoSite PhosphoSite-Q9NVC6
TrEMBL
UniProt Splice Variant
Entrez Gene 9440
UniGene Hs.444931
RefSeq
HUGO HGNC:2375
OMIM 603810
CCDS
HPRD 04816
IMGT
EMBL AC022150 AF104254 AF105421 AF117657 AK001674 AK022156 AK023209 BC021101
GenPept AAD12723 AAD22031 AAD30856 AAH21101 BAA91827 BAB13973 BAG51169