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Protein

Mediator of RNA polymerase II transcription subunit 17

Gene

MED17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Molecular functionActivator
Biological processTranscription, 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

EuPathDBiHostDB:ENSG00000042429.10
HGNCiHGNC:2375 MED17
MIMi603810 gene
neXtProtiNX_Q9NVC6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs267607232EnsemblClinVar.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
ProteomicsDBi82777
82778 [Q9NVC6-2]

PTM databases

iPTMnetiQ9NVC6
PhosphoSitePlusiQ9NVC6

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000042429 Expressed in 217 organ(s), highest expression level in kidney
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114830, 85 interactors
ComplexPortaliCPX-3227 Core mediator complex
CORUMiQ9NVC6
DIPiDIP-31451N
IntActiQ9NVC6, 43 interactors
MINTiQ9NVC6
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
OMAiPHHGTFE
OrthoDBiEOG091G03JX
PhylomeDBiQ9NVC6
TreeFamiTF323615

Family and domain databases

InterProiView protein in InterPro
IPR019313 Mediator_Med17
PANTHERiPTHR13114 PTHR13114, 1 hit
PfamiView protein in Pfam
PF10156 Med17, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 15 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PM72E9PM72_HUMAN
Mediator of RNA polymerase II trans...
MED17
509Annotation score:
A0A1W2PS27A0A1W2PS27_HUMAN
Mediator of RNA polymerase II trans...
MED17
652Annotation score:
A0A1W2PNW7A0A1W2PNW7_HUMAN
Mediator of RNA polymerase II trans...
MED17
605Annotation score:
A0A1W2PQ48A0A1W2PQ48_HUMAN
Mediator of RNA polymerase II trans...
MED17
386Annotation score:
A0A1W2PS69A0A1W2PS69_HUMAN
Mediator of RNA polymerase II trans...
MED17
500Annotation score:
E9PJZ4E9PJZ4_HUMAN
Mediator of RNA polymerase II trans...
MED17
72Annotation score:
E9PKQ4E9PKQ4_HUMAN
Mediator of RNA polymerase II trans...
MED17
231Annotation score:
A0A1W2PPC8A0A1W2PPC8_HUMAN
Mediator of RNA polymerase II trans...
MED17
123Annotation score:
A0A1W2PPJ7A0A1W2PPJ7_HUMAN
Mediator of RNA polymerase II trans...
MED17
85Annotation score:
A0A1W2PPP8A0A1W2PPP8_HUMAN
Mediator of RNA polymerase II trans...
MED17
233Annotation score:
There are more potential isoformsShow all

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 → DCombined sources4 PublicationsCorresponds to variant dbSNP:rs2848477EnsemblClinVar.1
Natural variantiVAR_057781357F → L. Corresponds to variant dbSNP:rs35313315EnsemblClinVar.1
Natural variantiVAR_065066371L → P in MCPHSBA. 1 PublicationCorresponds to variant dbSNP:rs267607232EnsemblClinVar.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]
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, 85 interactors
ComplexPortaliCPX-3227 Core mediator complex
CORUMiQ9NVC6
DIPiDIP-31451N
IntActiQ9NVC6, 43 interactors
MINTiQ9NVC6
STRINGi9606.ENSP00000251871

PTM databases

iPTMnetiQ9NVC6
PhosphoSitePlusiQ9NVC6

Polymorphism and mutation databases

BioMutaiMED17
DMDMi296437366

Proteomic databases

EPDiQ9NVC6
MaxQBiQ9NVC6
PaxDbiQ9NVC6
PeptideAtlasiQ9NVC6
PRIDEiQ9NVC6
ProteomicsDBi82777
82778 [Q9NVC6-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9440
DisGeNETi9440
EuPathDBiHostDB:ENSG00000042429.10
GeneCardsiMED17
H-InvDBiHIX0010027
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
OMAiPHHGTFE
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
PROiPR:Q9NVC6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000042429 Expressed in 217 organ(s), highest expression level in kidney
CleanExiHS_MED17
ExpressionAtlasiQ9NVC6 baseline and differential
GenevisibleiQ9NVC6 HS

Family and domain databases

InterProiView protein in InterPro
IPR019313 Mediator_Med17
PANTHERiPTHR13114 PTHR13114, 1 hit
PfamiView protein in Pfam
PF10156 Med17, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMED17_HUMAN
AccessioniPrimary (citable) accession number: Q9NVC6
Secondary accession number(s): B3KN07
, Q9HA81, Q9UNP7, Q9Y2W0, Q9Y660
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 28, 2003
Last sequence update: May 18, 2010
Last modified: September 12, 2018
This is version 151 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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