Human Gene MED17 (ENST00000251871.9_5) from GENCODE V47lift37
  Description: mediator complex subunit 17 (from RefSeq NM_004268.5)
Gencode Transcript: ENST00000251871.9_5
Gencode Gene: ENSG00000042429.12_15
Transcript (Including UTRs)
   Position: hg19 chr11:93,517,448-93,548,129 Size: 30,682 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr11:93,517,680-93,545,230 Size: 27,551 Coding Exon Count: 12 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:93,517,448-93,548,129)mRNA (may differ from genome)Protein (651 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MED17_HUMAN
DESCRIPTION: RecName: Full=Mediator of RNA polymerase II transcription subunit 17; AltName: Full=Activator-recruited cofactor 77 kDa component; Short=ARC77; AltName: Full=Cofactor required for Sp1 transcriptional activation subunit 6; Short=CRSP complex subunit 6; AltName: Full=Mediator complex subunit 17; AltName: Full=Thyroid hormone receptor-associated protein complex 80 kDa component; Short=Trap80; AltName: Full=Transcriptional coactivator CRSP77; AltName: Full=Vitamin D3 receptor-interacting protein complex 80 kDa component; Short=DRIP80;
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.
SUBUNIT: Interacts with GATA1 and PPARG (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with STAT2.
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Ubiquitous.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Defects in MED17 are the cause of microcephaly postnatal progressive with seizures and brain atrophy (MCPHSBA) [MIM:613668]. It is 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.
SIMILARITY: Belongs to the Mediator complex subunit 17 family.
SEQUENCE CAUTION: Sequence=AAD30856.1; Type=Frameshift; Positions=333, 335, 341, 346;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MED17
Diseases sorted by gene-association score: microcephaly, postnatal progressive, with seizures and brain atrophy* (1680), microcephaly (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.92 RPKM in Ovary
Total median expression: 192.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -98.20232-0.423 Picture PostScript Text
3' UTR -759.902899-0.262 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019313 - Mediator_Med17

Pfam Domains:
PF10156 - Subunit 17 of Mediator complex

SCOP Domains:
48029 - FliG

ModBase Predicted Comparative 3D Structure on Q9NVC6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001104 RNA polymerase II transcription cofactor activity
GO:0003712 transcription cofactor activity
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity
GO:0038023 signaling receptor activity
GO:0042809 vitamin D receptor binding
GO:0046966 thyroid hormone receptor binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter
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


-  Descriptions from all associated GenBank mRNAs
  LF384510 - JP 2014500723-A/192013: Polycomb-Associated Non-Coding RNAs.
AK022156 - Homo sapiens cDNA FLJ12094 fis, clone HEMBB1002607, highly similar to Homo sapiens vitamin D3 receptor interacting protein (DRIP80) mRNA.
AK299702 - Homo sapiens cDNA FLJ55364 complete cds, highly similar to CRSP complex subunit 6.
AK001674 - Homo sapiens cDNA FLJ10812 fis, clone NT2RP4000975.
BC021101 - Homo sapiens mediator complex subunit 17, mRNA (cDNA clone MGC:31824 IMAGE:3833937), complete cds.
AF105421 - Homo sapiens vitamin D3 receptor interacting protein (DRIP80) mRNA, complete cds.
AF117657 - Homo sapiens thyroid hormone receptor-associated protein complex component TRAP80 mRNA, complete cds.
AK023209 - Homo sapiens cDNA FLJ13147 fis, clone NT2RP3003313, highly similar to CRSP complex subunit 6.
JD421400 - Sequence 402424 from Patent EP1572962.
CU676822 - Synthetic construct Homo sapiens gateway clone IMAGE:100023369 5' read MED17 mRNA.
KJ898022 - Synthetic construct Homo sapiens clone ccsbBroadEn_07416 MED17 gene, encodes complete protein.
AB463860 - Synthetic construct DNA, clone: pF1KB7888, Homo sapiens MED17 gene for mediator complex subunit 17, without stop codon, in Flexi system.
GQ891445 - Homo sapiens clone HEL-S-166 epididymis secretory sperm binding protein mRNA, complete cds.
LF375588 - JP 2014500723-A/183091: Polycomb-Associated Non-Coding RNAs.
AF104254 - Homo sapiens transcriptional co-activator CRSP77 (CRSP77) mRNA, partial cds.
LF375586 - JP 2014500723-A/183089: Polycomb-Associated Non-Coding RNAs.
LF375585 - JP 2014500723-A/183088: Polycomb-Associated Non-Coding RNAs.
LF375584 - JP 2014500723-A/183087: Polycomb-Associated Non-Coding RNAs.
JD095553 - Sequence 76577 from Patent EP1572962.
LF375583 - JP 2014500723-A/183086: Polycomb-Associated Non-Coding RNAs.
JD367174 - Sequence 348198 from Patent EP1572962.
JD367175 - Sequence 348199 from Patent EP1572962.
JD325824 - Sequence 306848 from Patent EP1572962.
JD325825 - Sequence 306849 from Patent EP1572962.
JD152896 - Sequence 133920 from Patent EP1572962.
JD152897 - Sequence 133921 from Patent EP1572962.
JD527464 - Sequence 508488 from Patent EP1572962.
JD527465 - Sequence 508489 from Patent EP1572962.
JD160463 - Sequence 141487 from Patent EP1572962.
JD160465 - Sequence 141489 from Patent EP1572962.
JD280650 - Sequence 261674 from Patent EP1572962.
JD385103 - Sequence 366127 from Patent EP1572962.
JD541352 - Sequence 522376 from Patent EP1572962.
JD279344 - Sequence 260368 from Patent EP1572962.
JD085236 - Sequence 66260 from Patent EP1572962.
JD250193 - Sequence 231217 from Patent EP1572962.
JD112543 - Sequence 93567 from Patent EP1572962.
JD089656 - Sequence 70680 from Patent EP1572962.
JD279526 - Sequence 260550 from Patent EP1572962.
JD489335 - Sequence 470359 from Patent EP1572962.
JD499875 - Sequence 480899 from Patent EP1572962.
JD252549 - Sequence 233573 from Patent EP1572962.
JD071381 - Sequence 52405 from Patent EP1572962.
JD402378 - Sequence 383402 from Patent EP1572962.
JD163831 - Sequence 144855 from Patent EP1572962.
JD071873 - Sequence 52897 from Patent EP1572962.
JD563686 - Sequence 544710 from Patent EP1572962.
JD552594 - Sequence 533618 from Patent EP1572962.
JD037911 - Sequence 18935 from Patent EP1572962.
JD318503 - Sequence 299527 from Patent EP1572962.
JD078239 - Sequence 59263 from Patent EP1572962.
JD554399 - Sequence 535423 from Patent EP1572962.
JD342501 - Sequence 323525 from Patent EP1572962.
JD308347 - Sequence 289371 from Patent EP1572962.
JD412519 - Sequence 393543 from Patent EP1572962.
JD412518 - Sequence 393542 from Patent EP1572962.
JD069493 - Sequence 50517 from Patent EP1572962.
JD470065 - Sequence 451089 from Patent EP1572962.
JD488435 - Sequence 469459 from Patent EP1572962.
JD441061 - Sequence 422085 from Patent EP1572962.
JD099373 - Sequence 80397 from Patent EP1572962.
JD402196 - Sequence 383220 from Patent EP1572962.
JD289998 - Sequence 271022 from Patent EP1572962.
JD183379 - Sequence 164403 from Patent EP1572962.
JD243700 - Sequence 224724 from Patent EP1572962.
JD284331 - Sequence 265355 from Patent EP1572962.
JD514085 - Sequence 495109 from Patent EP1572962.
JD514086 - Sequence 495110 from Patent EP1572962.
JD306814 - Sequence 287838 from Patent EP1572962.
JD397741 - Sequence 378765 from Patent EP1572962.
MA620087 - JP 2018138019-A/192013: Polycomb-Associated Non-Coding RNAs.
MA611165 - JP 2018138019-A/183091: Polycomb-Associated Non-Coding RNAs.
MA611163 - JP 2018138019-A/183089: Polycomb-Associated Non-Coding RNAs.
MA611162 - JP 2018138019-A/183088: Polycomb-Associated Non-Coding RNAs.
MA611161 - JP 2018138019-A/183087: Polycomb-Associated Non-Coding RNAs.
MA611160 - JP 2018138019-A/183086: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NVC6 (Reactome details) participates in the following event(s):

R-HSA-212352 Formation of ARC coactivator complex
R-HSA-212380 Formation of TRAP coactivator complex
R-HSA-212432 Formation of DRIP coactivator complex
R-HSA-381309 PPARG:RXRA heterodimer binds to fatty acid-like ligands
R-HSA-212436 Generic Transcription Pathway
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1266738 Developmental Biology
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ARC77, B3KN07, CRSP6, DRIP77, DRIP80, ENST00000251871.1, ENST00000251871.2, ENST00000251871.3, ENST00000251871.4, ENST00000251871.5, ENST00000251871.6, ENST00000251871.7, ENST00000251871.8, MED17_HUMAN, NM_004268, Q9HA81, Q9NVC6, Q9UNP7, Q9Y2W0, Q9Y660, TRAP80, uc317ffj.1, uc317ffj.2
UCSC ID: ENST00000251871.9_5
RefSeq Accession: NM_004268.5
Protein: Q9NVC6 (aka MED17_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.