The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TF... See more...

Aliases for MED17 Gene

Aliases for MED17 Gene

  • Mediator Complex Subunit 17 2 3 4 5
  • DRIP80 2 3 4
  • TRAP80 2 3 4
  • Cofactor Required For Sp1 Transcriptional Activation, Subunit 6, 77kDa 2 3
  • Thyroid Hormone Receptor-Associated Protein Complex 80 KDa Component 3 4
  • Vitamin D3 Receptor-Interacting Protein Complex 80 KDa Component 3 4
  • Mediator Of RNA Polymerase II Transcription Subunit 17 3 4
  • Activator-Recruited Cofactor 77 KDa Component 3 4
  • Transcriptional Coactivator CRSP77 3 4
  • CRSP Complex Subunit 6 3 4
  • CRSP77 2 3
  • CRSP6 3 4
  • ARC77 3 4
  • SRB4 2 3
  • Cofactor Required For Sp1 Transcriptional Activation, Subunit 6 (77kD) 2
  • Cofactor Required For Sp1 Transcriptional Activation Subunit 6 4
  • Epididymis Secretory Sperm Binding Protein 3
  • DRIP77 4
  • Trap80 4
  • MED17 5

External Ids for MED17 Gene

Previous HGNC Symbols for MED17 Gene

  • CRSP6

Previous GeneCards Identifiers for MED17 Gene

  • GC11P093158
  • GC11P093517
  • GC11P089594

Summaries for MED17 Gene

Entrez Gene Summary for MED17 Gene

  • The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]

GeneCards Summary for MED17 Gene

MED17 (Mediator Complex Subunit 17) is a Protein Coding gene. Diseases associated with MED17 include Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy and Microcephaly. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Thyroid hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include transcription coregulator activity. An important paralog of this gene is ENSG00000284057.

UniProtKB/Swiss-Prot Summary for MED17 Gene

  • 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.

Gene Wiki entry for MED17 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MED17 Gene

Genomics for MED17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MED17 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J093783 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 620.3 +1.3 1274 4.2 HNRNPL CREB1 GATAD2A ZNF629 ZNF512 LEF1 ZNF692 POLR2A BACH1 JUND MED17 TAF1D C11orf54 SNORA1 MRE11 ANKRD49 SNORA18 SNORA25 SNORA32 SNORA40
GH11J093796 Promoter 0.6 EPDnew 600.4 +12.3 12296 0.1 RFX1 NCOR1 ARID1B EMSY RF00015-012 SNODB1210 MED17 C11orf54 SNORA1 SNORA18 SNORA40 SNORA8 SNORD5 SNORD6
GH11J093733 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 103.8 -44.3 -44272 13.2 BRCA1 ARHGAP35 HNRNPL GATAD2A PRDM10 REST TFE3 LEF1 SOX13 NFKBIZ C11orf54 TAF1D ENSG00000284057 NONHSAG009376.2 lnc-VSTM5-1 MED17 ANKRD49 MRE11 CEP295 SNORA1
GH11J093797 Promoter 0.3 EPDnew 600.4 +13.5 13475 0.1 SNODB1210 MED17 lnc-C11orf54-3 TAF1D VSTM5 ENSG00000284057
GH11J093809 Promoter 0.3 EPDnew 600.3 +25.6 25554 0.1 MED17 lnc-C11orf54-3 HSALNG0086493 TAF1D VSTM5 ENSG00000284057
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MED17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MED17

Top Transcription factor binding sites by QIAGEN in the MED17 gene promoter:
  • FOXO1
  • FOXO1a
  • HNF-4alpha1
  • HNF-4alpha2
  • LCR-F1
  • POU3F1
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox5

Genomic Locations for MED17 Gene

Genomic Locations for MED17 Gene
chr11:93,784,227-93,814,963
(GRCh38/hg38)
Size:
30,737 bases
Orientation:
Plus strand
chr11:93,517,393-93,547,861
(GRCh37/hg19)
Size:
30,469 bases
Orientation:
Plus strand

Genomic View for MED17 Gene

Genes around MED17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MED17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MED17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MED17 Gene

Proteins for MED17 Gene

  • Protein details for MED17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVC6-MED17_HUMAN
    Recommended name:
    Mediator of RNA polymerase II transcription subunit 17
    Protein Accession:
    Q9NVC6
    Secondary Accessions:
    • B3KN07
    • Q9HA81
    • Q9UNP7
    • Q9Y2W0
    • Q9Y660

    Protein attributes for MED17 Gene

    Size:
    651 amino acids
    Molecular mass:
    72890 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAD30856.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be due to intron retention.

    Alternative splice isoforms for MED17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MED17 Gene

Post-translational modifications for MED17 Gene

  • Ubiquitination at Lys123, Lys178, and Lys623
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MED17 Gene

Domains & Families for MED17 Gene

Gene Families for MED17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MED17 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MED17 Gene

GenScript: Design optimal peptide antigens:
  • Vitamin D3 receptor-interacting protein complex 80 kDa component (MED17_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NVC6

UniProtKB/Swiss-Prot:

MED17_HUMAN :
  • Belongs to the Mediator complex subunit 17 family.
Family:
  • Belongs to the Mediator complex subunit 17 family.
genes like me logo Genes that share domains with MED17: view

Function for MED17 Gene

Molecular function for MED17 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for MED17 Gene

Gene Ontology (GO) - Molecular Function for MED17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003712 transcription coregulator activity IEA,IDA 10198638
GO:0003713 transcription coactivator activity IDA 12037571
GO:0005515 protein binding IPI 12584197
GO:0030374 nuclear receptor transcription coactivator activity NAS 10235266
GO:0042809 vitamin D receptor binding NAS 10235266
genes like me logo Genes that share ontologies with MED17: view
genes like me logo Genes that share phenotypes with MED17: view

Human Phenotype Ontology for MED17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MED17 Gene

MGI Knock Outs for MED17:
  • Med17 Med17<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for MED17 Gene

miRTarBase miRNAs that target MED17

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED17

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MED17 Gene

Localization for MED17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MED17 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MED17 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MED17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10235267
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 9989412
GO:0016020 membrane HDA 19946888
GO:0016592 mediator complex IEA,IDA 10198638
genes like me logo Genes that share ontologies with MED17: view

Pathways & Interactions for MED17 Gene

genes like me logo Genes that share pathways with MED17: view

Pathways by source for MED17 Gene

1 GeneGo (Thomson Reuters) pathway for MED17 Gene
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes

Gene Ontology (GO) - Biological Process for MED17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA,IDA 9989412
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0045893 positive regulation of transcription, DNA-templated IDA 10198638
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 12037571
genes like me logo Genes that share ontologies with MED17: view

No data available for SIGNOR curated interactions for MED17 Gene

Drugs & Compounds for MED17 Gene

No Compound Related Data Available

Transcripts for MED17 Gene

mRNA/cDNA for MED17 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED17

Alternative Splicing Database (ASD) splice patterns (SP) for MED17 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b · 12c ^ 13 ^
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: -
SP5: - -
SP6: -
SP7:
SP8: -
SP9: -
SP10:

ExUns: 14a · 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for MED17 Gene

GeneLoc Exon Structure for
MED17

Expression for MED17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MED17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MED17 Gene

This gene is overexpressed in Breast (23.9) and Serum (20.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MED17 Gene



Protein tissue co-expression partners for MED17 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MED17

SOURCE GeneReport for Unigene cluster for MED17 Gene:

Hs.444931

mRNA Expression by UniProt/SwissProt for MED17 Gene:

Q9NVC6-MED17_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MED17 Gene

  • Skin(4.4)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MED17 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with MED17: view

No data available for mRNA differential expression in normal tissues for MED17 Gene

Orthologs for MED17 Gene

This gene was present in the common ancestor of animals.

Orthologs for MED17 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MED17 30 31
  • 99.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MED17 31
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MED17 30 31
  • 92.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MED17 30 31
  • 92.06 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 91 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Med17 30
  • 86.49 (n)
Mouse
(Mus musculus)
Mammalia Med17 30 17 31
  • 86.44 (n)
OneToOne
Chicken
(Gallus gallus)
Aves MED17 30 31
  • 80.25 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MED17 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia med17 30
  • 75.27 (n)
Str.10192 30
Zebrafish
(Danio rerio)
Actinopterygii MED17 31
  • 75 (a)
OneToOne
med17 30
  • 69.94 (n)
zgc73307 30
Fruit Fly
(Drosophila melanogaster)
Insecta MED17 30 31
  • 50.24 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta MED17_ANOGA 30
  • 49.68 (n)
Worm
(Caenorhabditis elegans)
Secernentea mdt-17 30 31
  • 41.28 (n)
OneToOne
Species where no ortholog for MED17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MED17 Gene

ENSEMBL:
Gene Tree for MED17 (if available)
TreeFam:
Gene Tree for MED17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MED17: view image

Paralogs for MED17 Gene

Paralogs for MED17 Gene

genes like me logo Genes that share paralogs with MED17: view

Variants for MED17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MED17 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
663716 Pathogenic: not provided 93,809,729(+) C/T NONSENSE
722563 Likely Benign: not provided 93,797,600(+) G/A SYNONYMOUS_VARIANT
724157 Benign: not provided 93,784,737(+) C/G MISSENSE_VARIANT
730459 Likely Benign: not provided 93,807,511(+) T/C INTRON_VARIANT
731797 Benign: not provided 93,809,737(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MED17 Gene

Structural Variations from Database of Genomic Variants (DGV) for MED17 Gene

Variant ID Type Subtype PubMed ID
esv3627294 CNV gain 21293372
nsv832232 CNV gain 17160897

Variation tolerance for MED17 Gene

Residual Variation Intolerance Score: 7.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MED17 Gene

Human Gene Mutation Database (HGMD)
MED17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MED17

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED17 Gene

Disorders for MED17 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MED17 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly, postnatal progressive, with seizures and brain atrophy
  • infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
microcephaly
  • microcephalus
3-methylcrotonyl-coa carboxylase deficiency
  • 3-methylcrotonylglycinuria
opitz-kaveggia syndrome
  • oks
- elite association - COSMIC cancer census association via MalaCards
Search MED17 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MED17_HUMAN
  • 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:0000269 PubMed:20950787}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with MED17: view

No data available for Genatlas for MED17 Gene

Publications for MED17 Gene

  1. The transcriptional cofactor complex CRSP is required for activity of the enhancer-binding protein Sp1. (PMID: 9989412) Ryu S … Tjian R (Nature 1999) 2 3 4
  2. Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators. (PMID: 10198638) Ito M … Roeder RG (Molecular cell 1999) 2 3 4
  3. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. (PMID: 20950787) Kaufmann R … Elpeleg O (American journal of human genetics 2010) 3 4
  4. MED1/TRAP220 exists predominantly in a TRAP/ Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription. (PMID: 15989967) Zhang X … Roeder RG (Molecular cell 2005) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for MED17 Gene

  • Signalway ELISA kits for MED17

Sources for MED17 Gene