MED17 mediator complex subunit 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MED17provided by HGNC
Official Full Name: mediator complex subunit 17provided by HGNC
Primary source: HGNC:HGNC:2375
See related: Ensembl:ENSG00000042429 MIM:603810; AllianceGenome:HGNC:2375
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SRB4; CRSP6; CRSP77; DRIP80; TRAP80
Summary: 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]
Expression: Ubiquitous expression in thyroid (RPKM 8.7), ovary (RPKM 8.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q21

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (93784282..93814963)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (93700614..93731285)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (93517448..93548129)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.
Title: An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.
Increased unfolded protein responses caused by MED17 mutations.
Title: Increased unfolded protein responses caused by MED17 mutations.
The cell polarity kinase Par1b/MARK2 activation selects specific NF-kB transcripts via phosphorylation of core mediator Med17/TRAP80.
Title: The cell polarity kinase Par1b/MARK2 activation selects specific NF-kB transcripts via phosphorylation of core mediator Med17/TRAP80.
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.
Title: Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.
These findings suggest that hMED17 may play essential roles in switching between transcription and nucleotide excision repair.
Title: Human mediator MED17 subunit plays essential roles in gene regulation by associating with the transcription and DNA repair machineries.
TRAP80 is a selective regulator of hepatic lipogenesis and is required for LXR-dependent SREBP-1c activation.
Title: Hepatic TRAP80 selectively regulates lipogenic activity of liver X receptor.
Studies indicate that the activation domain of p53 (p53AD) binds directly to the MED17 subunit of Mediator, whereas the p53 C-terminal domain (p53CTD) binds the MED1 subunit.
Title: Mediator and post-recruitment regulation of RNA polymerase II.
the p. L371P mutation in MED17 is a founder mutation in the Caucasus Jewish community and that homozygosity for this mutation is associated with infantile cerebral and cerebellar atrophy with poor myelination.
Title: Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MedGen: C3150921 OMIM: 613668 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of mediator complex subunit 17 (MED17) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Knockdown of MED17 by siRNAs inhibits HIV LTR-beta-gal activation in the Tat transactivation assay	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-52959 (e-PCR)
- UniSTS:51

WI-15663 (e-PCR)
- UniSTS:74805

G32719 (e-PCR)
- UniSTS:117301

sY3084 (e-PCR)
- UniSTS:515126

RH102355 (e-PCR)
- UniSTS:96689

SHGC-34263 (e-PCR)
- UniSTS:63429

RH16177 (e-PCR)
- UniSTS:59362

A009O47 (e-PCR)
- UniSTS:39933

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nuclear receptor coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables nuclear receptor coactivator activity	NAS Non-traceable Author Statement more info	PubMed
enables nuclear thyroid hormone receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables nuclear vitamin D receptor binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coregulator activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA polymerase II preinitiation complex assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription elongation by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription initiation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription initiation by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in somatic stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in transcription initiation at RNA polymerase II promoter	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of core mediator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of core mediator complex	IPI Inferred from Physical Interaction more info	PubMed
part_of mediator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of mediator complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin ligase complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mediator of RNA polymerase II transcription subunit 17

Names: ARC77; CRSP complex subunit 6; activator-recruited cofactor 77 kDa component; cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa; epididymis secretory sperm binding protein; thyroid hormone receptor-associated protein complex 80 kDa component; transcriptional coactivator CRSP77; vitamin D3 receptor-interacting protein complex 80 kDa component

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.