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

    Gene ID: 400569, updated on 27-Nov-2024

    Summary

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    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
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    Genomic context

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    See MED11 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4731428..4733607)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4621086..4623276)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    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 (38) 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

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

    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 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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    Preferred Names
    mediator of RNA polymerase II transcription subunit 11
    Names
    mediator of RNA polymerase II transcription, subunit 11 homolog

    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.

    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_2024_08

    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.

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