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Protein

Mediator of RNA polymerase II transcription subunit 17

Gene

MED17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • ligand-dependent nuclear receptor transcription coactivator activity Source: UniProtKB
  • receptor activity Source: UniProtKB
  • RNA polymerase II transcription cofactor activity Source: UniProtKB
  • thyroid hormone receptor binding Source: UniProtKB
  • transcription coactivator activity Source: MGI
  • transcription cofactor activity Source: UniProtKB
  • ubiquitin protein ligase activity Source: Ensembl
  • vitamin D receptor binding Source: UniProtKB

GO - Biological processi

  • androgen receptor signaling pathway Source: UniProtKB
  • intracellular steroid hormone receptor signaling pathway Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: MGI
  • regulation of transcription from RNA polymerase II promoter Source: MGI
  • stem cell population maintenance Source: Ensembl
  • transcription initiation from RNA polymerase II promoter Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-1989781. PPARA activates gene expression.
R-HSA-212436. Generic Transcription Pathway.
R-HSA-381340. Transcriptional regulation of white adipocyte differentiation.

Names & Taxonomyi

Protein namesi
Recommended name:
Mediator of RNA polymerase II transcription subunit 17
Alternative name(s):
Activator-recruited cofactor 77 kDa component
Short name:
ARC77
Cofactor required for Sp1 transcriptional activation subunit 6
Short name:
CRSP complex subunit 6
Mediator complex subunit 17
Thyroid hormone receptor-associated protein complex 80 kDa component
Short name:
Trap80
Transcriptional coactivator CRSP77
Vitamin D3 receptor-interacting protein complex 80 kDa component
Short name:
DRIP80
Gene namesi
Name:MED17
Synonyms:ARC77, CRSP6, DRIP77, DRIP80, TRAP80
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:2375. MED17.

Subcellular locationi

GO - Cellular componenti

  • mediator complex Source: UniProtKB
  • membrane Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • transcription factor complex Source: MGI
  • ubiquitin ligase complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613668
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065066371L → P in MCPHSBA. 1 PublicationCorresponds to variant rs267607232dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9440.
MalaCardsiMED17.
MIMi613668. phenotype.
OpenTargetsiENSG00000042429.
Orphaneti402364. Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly.
PharmGKBiPA162395443.

Polymorphism and mutation databases

BioMutaiMED17.
DMDMi296437366.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000793591 – 651Mediator of RNA polymerase II transcription subunit 17Add BLAST651

Proteomic databases

EPDiQ9NVC6.
MaxQBiQ9NVC6.
PaxDbiQ9NVC6.
PeptideAtlasiQ9NVC6.
PRIDEiQ9NVC6.

PTM databases

iPTMnetiQ9NVC6.
PhosphoSitePlusiQ9NVC6.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000042429.
CleanExiHS_MED17.
ExpressionAtlasiQ9NVC6. baseline and differential.
GenevisibleiQ9NVC6. HS.

Organism-specific databases

HPAiHPA064236.

Interactioni

Subunit structurei

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.By similarity8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Med11Q9D8C62EBI-394562,EBI-6260909From a different organism.
MED22Q155283EBI-394562,EBI-394687
MED27Q6P2C82EBI-394562,EBI-394603
Med30Q9CQI92EBI-394562,EBI-309220From a different organism.
MED6O755862EBI-394562,EBI-394624
Med8Q9D7W52EBI-394562,EBI-7990252From a different organism.

GO - Molecular functioni

  • thyroid hormone receptor binding Source: UniProtKB
  • vitamin D receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi114830. 82 interactors.
DIPiDIP-31451N.
IntActiQ9NVC6. 38 interactors.
MINTiMINT-275744.
STRINGi9606.ENSP00000251871.

Structurei

3D structure databases

ProteinModelPortaliQ9NVC6.
SMRiQ9NVC6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Mediator complex subunit 17 family.Curated

Phylogenomic databases

eggNOGiKOG4512. Eukaryota.
ENOG410XRQ8. LUCA.
GeneTreeiENSGT00390000011810.
HOGENOMiHOG000008073.
HOVERGENiHBG103247.
InParanoidiQ9NVC6.
KOiK15133.
OMAiPPKQNPQ.
OrthoDBiEOG091G03JX.
PhylomeDBiQ9NVC6.
TreeFamiTF323615.

Family and domain databases

InterProiIPR019313. Mediator_Med17.
[Graphical view]
PfamiPF10156. Med17. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NVC6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSGVRAVRIS IESACEKQVH EVGLDGTETY LPPLSMSQNL ARLAQRIDFS
60 70 80 90 100
QGSGSEEEEA AGTEGDAQEW PGAGSSADQD DEEGVVKFQP SLWPWDSVRN
110 120 130 140 150
NLRSALTEMC VLYDVLSIVR DKKFMTLDPV SQDALPPKQN PQTLQLISKK
160 170 180 190 200
KSLAGAAQIL LKGAERLTKS VTENQENKLQ RDFNSELLRL RQHWKLRKVG
210 220 230 240 250
DKILGDLSYR SAGSLFPHHG TFEVIKNTDL DLDKKIPEDY CPLDVQIPSD
260 270 280 290 300
LEGSAYIKVS IQKQAPDIGD LGTVNLFKRP LPKSKPGSPH WQTKLEAAQN
310 320 330 340 350
VLLCKEIFAQ LSREAVQIKS QVPHIVVKNQ IISQPFPSLQ LSISLCHSSN
360 370 380 390 400
DKKSQKFATE KQCPEDHLYV LEHNLHLLIR EFHKQTLSSI MMPHPASAPF
410 420 430 440 450
GHKRMRLSGP QAFDKNEINS LQSSEGLLEK IIKQAKHIFL RSRAAATIDS
460 470 480 490 500
LASRIEDPQI QAHWSNINDV YESSVKVLIT SQGYEQICKS IQLQLNIGVE
510 520 530 540 550
QIRVVHRDGR VITLSYQEQE LQDFLLSQMS QHQVHAVQQL AKVMGWQVLS
560 570 580 590 600
FSNHVGLGPI ESIGNASAIT VASPSGDYAI SVRNGPESGS KIMVQFPRNQ
610 620 630 640 650
CKDLPKSDVL QDNKWSHLRG PFKEVQWNKM EGRNFVYKME LLMSALSPCL

L
Length:651
Mass (Da):72,890
Last modified:May 18, 2010 - v2
Checksum:i47011210952D287B
GO
Isoform 2 (identifier: Q9NVC6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-145: NPQTLQ → VFVDFN
     146-651: Missing.

Note: May be due to intron retention.
Show »
Length:145
Mass (Da):15,951
Checksum:i20AE08169FD09570
GO

Sequence cautioni

The sequence AAD30856 differs from that shown. Reason: Frameshift at positions 333, 335, 341 and 346.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti21E → G in BAB13973 (PubMed:14702039).Curated1
Sequence conflicti58E → G in BAB13973 (PubMed:14702039).Curated1
Sequence conflicti356K → N in AAD30856 (PubMed:10235266).Curated1
Sequence conflicti409G → Q AA sequence (PubMed:10198638).Curated1
Sequence conflicti531Q → H in AAD12723 (PubMed:9989412).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06312669E → D.Combined sources4 PublicationsCorresponds to variant rs2848477dbSNPEnsembl.1
Natural variantiVAR_057781357F → L.Corresponds to variant rs35313315dbSNPEnsembl.1
Natural variantiVAR_065066371L → P in MCPHSBA. 1 PublicationCorresponds to variant rs267607232dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_028115140 – 145NPQTLQ → VFVDFN in isoform 2. 1 Publication6
Alternative sequenceiVSP_028116146 – 651Missing in isoform 2. 1 PublicationAdd BLAST506

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF117657 mRNA. Translation: AAD22031.2.
AF105421 mRNA. Translation: AAD30856.1. Frameshift.
AK001674 mRNA. Translation: BAA91827.1.
AK022156 mRNA. Translation: BAB13973.1.
AK023209 mRNA. Translation: BAG51169.1.
AC022150 Genomic DNA. No translation available.
BC021101 mRNA. Translation: AAH21101.1.
AF104254 mRNA. Translation: AAD12723.1.
CCDSiCCDS8295.1. [Q9NVC6-1]
RefSeqiNP_004259.3. NM_004268.4. [Q9NVC6-1]
UniGeneiHs.444931.

Genome annotation databases

EnsembliENST00000251871; ENSP00000251871; ENSG00000042429. [Q9NVC6-1]
ENST00000530819; ENSP00000434459; ENSG00000042429. [Q9NVC6-2]
GeneIDi9440.
KEGGihsa:9440.
UCSCiuc001pel.3. human. [Q9NVC6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF117657 mRNA. Translation: AAD22031.2.
AF105421 mRNA. Translation: AAD30856.1. Frameshift.
AK001674 mRNA. Translation: BAA91827.1.
AK022156 mRNA. Translation: BAB13973.1.
AK023209 mRNA. Translation: BAG51169.1.
AC022150 Genomic DNA. No translation available.
BC021101 mRNA. Translation: AAH21101.1.
AF104254 mRNA. Translation: AAD12723.1.
CCDSiCCDS8295.1. [Q9NVC6-1]
RefSeqiNP_004259.3. NM_004268.4. [Q9NVC6-1]
UniGeneiHs.444931.

3D structure databases

ProteinModelPortaliQ9NVC6.
SMRiQ9NVC6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114830. 82 interactors.
DIPiDIP-31451N.
IntActiQ9NVC6. 38 interactors.
MINTiMINT-275744.
STRINGi9606.ENSP00000251871.

PTM databases

iPTMnetiQ9NVC6.
PhosphoSitePlusiQ9NVC6.

Polymorphism and mutation databases

BioMutaiMED17.
DMDMi296437366.

Proteomic databases

EPDiQ9NVC6.
MaxQBiQ9NVC6.
PaxDbiQ9NVC6.
PeptideAtlasiQ9NVC6.
PRIDEiQ9NVC6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251871; ENSP00000251871; ENSG00000042429. [Q9NVC6-1]
ENST00000530819; ENSP00000434459; ENSG00000042429. [Q9NVC6-2]
GeneIDi9440.
KEGGihsa:9440.
UCSCiuc001pel.3. human. [Q9NVC6-1]

Organism-specific databases

CTDi9440.
DisGeNETi9440.
GeneCardsiMED17.
H-InvDBHIX0010027.
HGNCiHGNC:2375. MED17.
HPAiHPA064236.
MalaCardsiMED17.
MIMi603810. gene.
613668. phenotype.
neXtProtiNX_Q9NVC6.
OpenTargetsiENSG00000042429.
Orphaneti402364. Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly.
PharmGKBiPA162395443.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4512. Eukaryota.
ENOG410XRQ8. LUCA.
GeneTreeiENSGT00390000011810.
HOGENOMiHOG000008073.
HOVERGENiHBG103247.
InParanoidiQ9NVC6.
KOiK15133.
OMAiPPKQNPQ.
OrthoDBiEOG091G03JX.
PhylomeDBiQ9NVC6.
TreeFamiTF323615.

Enzyme and pathway databases

ReactomeiR-HSA-1989781. PPARA activates gene expression.
R-HSA-212436. Generic Transcription Pathway.
R-HSA-381340. Transcriptional regulation of white adipocyte differentiation.

Miscellaneous databases

ChiTaRSiMED17. human.
GeneWikiiMED17.
GenomeRNAii9440.
PROiQ9NVC6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000042429.
CleanExiHS_MED17.
ExpressionAtlasiQ9NVC6. baseline and differential.
GenevisibleiQ9NVC6. HS.

Family and domain databases

InterProiIPR019313. Mediator_Med17.
[Graphical view]
PfamiPF10156. Med17. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMED17_HUMAN
AccessioniPrimary (citable) accession number: Q9NVC6
Secondary accession number(s): B3KN07
, Q9HA81, Q9UNP7, Q9Y2W0, Q9Y660
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 28, 2003
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 137 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.