U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MED11 mediator complex subunit 11 [ Homo sapiens (human) ]

Gene ID: 400569, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
MED11provided by HGNC
Official Full Name
mediator complex subunit 11provided by HGNC
Primary source
HGNC:HGNC:32687
See related
Ensembl:ENSG00000161920 MIM:612383; AllianceGenome:HGNC:32687
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NDDRSB; HSPC296
Summary
MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]
Expression
Ubiquitous expression in kidney (RPKM 9.3), spleen (RPKM 8.7) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See MED11 in Genome Data Viewer
Location:
17p13.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4731428..4733607)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4621086..4623276)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4634723..4636902)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene PELP1 divergent transcript Neighboring gene ribosomal protein S12 pseudogene 29 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11545 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47220 Neighboring gene arrestin beta 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4621547-4622746 Neighboring gene MPRA-validated peak2699 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4634559-4635378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4641736-4642641 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4642642-4643546 Neighboring gene C-X-C motif chemokine ligand 16 Neighboring gene zinc finger MYND-type containing 15 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:4667359-4667521 Neighboring gene transmembrane 4 L six family member 5

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. Calì E, et al. Genet Med, 2022 Oct. PMID 36001086, Free PMC Article
  2. Characterization of the influence of mediator complex in HIV-1 transcription. Ruiz A, et al. J Biol Chem, 2014 Oct 3. PMID 25100719, Free PMC Article
  3. A mammalian homolog of Drosophila melanogaster transcriptional coactivator intersex is a subunit of the mammalian Mediator complex. Sato S, et al. J Biol Chem, 2003 Dec 12. PMID 14576168
  4. Identification of mammalian Mediator subunits with similarities to yeast Mediator subunits Srb5, Srb6, Med11, and Rox3. Sato S, et al. J Biol Chem, 2003 Apr 25. PMID 12584197
  5. The SCF-Fbw7 ubiquitin ligase degrades MED13 and MED13L and regulates CDK8 module association with Mediator. Davis MA, et al. Genes Dev, 2013 Jan 15. PMID 23322298, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
    Title: A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
MedGen: C5830433 OMIM: 620327 GeneReviews: Not available
not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction Pubs
Knockdown of mediator complex subunit 11 (MED11) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat Knockdown of MED11 by siRNAs inhibits HIV LTR-beta-gal activation in the Tat transactivation assay PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC88387

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coregulator activity IEA
Inferred from Electronic Annotation
more info
  
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 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 NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
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 nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of ubiquitin ligase complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
mediator of RNA polymerase II transcription subunit 11
Names
mediator of RNA polymerase II transcription, subunit 11 homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_001001683.4 → NP_001001683.1  mediator of RNA polymerase II transcription subunit 11 isoform a

    See identical proteins and their annotated locations for NP_001001683.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC091153
    Consensus CDS
    CCDS32533.1
    UniProtKB/Swiss-Prot
    Q6NS89, Q9P086
    UniProtKB/TrEMBL
    U4PP31
    Related
    ENSP00000293777.5, ENST00000293777.6
    Conserved Domains (1) summary
    pfam10280
    Location:8 → 115
    Med11; Mediator complex protein

  2. NM_001305000.2 → NP_001291929.1  mediator of RNA polymerase II transcription subunit 11 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon, resulting in an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC091153
    Consensus CDS
    CCDS76920.1
    UniProtKB/TrEMBL
    I3L3E8
    Related
    ENSP00000460400.1, ENST00000575284.5
    Conserved Domains (1) summary
    pfam10280
    Location:8 → 72
    Med11; Mediator complex protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    4731428..4733607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    4621086..4623276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P086.2 GenPept UniProtKB/Swiss-Prot:Q9P086

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous