InnateDB Protein
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IDBP-590895.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MED17
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Protein Name
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mediator complex subunit 17
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Synonyms
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CRSP6; CRSP77; DRIP80; TRAP80;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000434459
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InnateDB Gene
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IDBG-68107 (MED17)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000305}.
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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.
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Tissue Specificity |
Ubiquitous. {ECO:0000269PubMed:10198638}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
85
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
5 [view]
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Molecular Function |
Accession |
GO Term |
GO:0001104
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RNA polymerase II transcription cofactor activity
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GO:0003712
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transcription cofactor activity
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GO:0003713
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transcription coactivator activity
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GO:0004872
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receptor activity
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GO:0030374
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ligand-dependent nuclear receptor transcription coactivator activity
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GO:0042809
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vitamin D receptor binding
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GO:0046966
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thyroid hormone receptor binding
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Biological Process |
GO:0006357
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regulation of transcription from RNA polymerase II promoter
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GO:0006367
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transcription initiation from RNA polymerase II promoter
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GO:0010467
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gene expression
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GO:0030518
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intracellular steroid hormone receptor signaling pathway
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GO:0030521
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androgen receptor signaling pathway
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GO:0045893
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positive regulation of transcription, DNA-templated
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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Cellular Component |
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PDB ID |
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InterPro |
IPR019313
Mediator complex, subunit Med17
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PFAM |
PF10156
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NVC6
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PhosphoSite |
PhosphoSite-Q9NVC6
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
9440
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UniGene |
Hs.444931
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RefSeq |
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HUGO |
HGNC:2375
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OMIM |
603810
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CCDS |
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HPRD |
04816
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IMGT |
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EMBL |
AC022150
AF104254
AF105421
AF117657
AK001674
AK022156
AK023209
BC021101
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GenPept |
AAD12723
AAD22031
AAD30856
AAH21101
BAA91827
BAB13973
BAG51169
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