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MED13 mediator complex subunit 13 [ Homo sapiens (human) ]

Gene ID: 9969, updated on 27-Jun-2020

Summary

Official Symbol
MED13provided by HGNC
Official Full Name
mediator complex subunit 13provided by HGNC
Primary source
HGNC:HGNC:22474
See related
Ensembl:ENSG00000108510 MIM:603808
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
MRD61; ARC250; THRAP1; DRIP250; HSPC221; TRAP240
Summary
This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 10.6), testis (RPKM 10.3) and 25 other tissues See more
Orthologs

Genomic context

See MED13 in Genome Data Viewer
Location:
17q23.2
Exon count:
31
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (61942605..62065983, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (60019966..60142643, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BRCA1 interacting protein C-terminal helicase 1 Neighboring gene VISTA enhancer hs778 Neighboring gene integrator complex subunit 2 Neighboring gene RNA, 7SL, cytoplasmic 800, pseudogene Neighboring gene RNA polymerase mitochondrial pseudogene 1 Neighboring gene ribosomal protein S6 kinase B1 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
INTELLECTUAL DEVELOPMENTAL DISORDER 61
MedGen: C5231400 OMIM: 618009 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genetic determinants of P wave duration and PR segment.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0593

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nuclear receptor transcription coactivator activity NAS
Non-traceable Author Statement
more info
PubMed 
thyroid hormone receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
 
transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coregulator activity IDA
Inferred from Direct Assay
more info
PubMed 
vitamin D receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mediator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mediator complex IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
mediator of RNA polymerase II transcription subunit 13
Names
activator-recruited cofactor 250 kDa component
mediator of RNA polymerase II transcription, subunit 13 homolog
thyroid hormone receptor-associated protein 1
thyroid hormone receptor-associated protein complex 240 kDa component
thyroid hormone receptor-associated protein complex component TRAP240
thyroid hormone receptor-associated protein, 240 kDa subunit
vitamin D3 receptor-interacting protein complex component DRIP250

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_046948.1 RefSeqGene

    Range
    5034..127707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005121.3NP_005112.2  mediator of RNA polymerase II transcription subunit 13

    See identical proteins and their annotated locations for NP_005112.2

    Status: REVIEWED

    Source sequence(s)
    AB011165, AC060798, AF117754, BP332524, BQ709424, CN273870
    Consensus CDS
    CCDS42366.1
    UniProtKB/Swiss-Prot
    Q9UHV7
    UniProtKB/TrEMBL
    A0A024QZ75
    Related
    ENSP00000380888.2, ENST00000397786.7
    Conserved Domains (2) summary
    pfam06333
    Location:16402161
    Med13_C; Mediator complex subunit 13 C-terminal
    pfam11597
    Location:14384
    Med13_N; Mediator complex subunit 13 N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    61942605..62065983 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525551.2XP_011523853.1  mediator of RNA polymerase II transcription subunit 13 isoform X1

    Conserved Domains (2) summary
    pfam06333
    Location:16402108
    Med13_C; Mediator complex subunit 13 C-terminal
    pfam11597
    Location:14384
    Med13_N; Mediator complex subunit 13 N-terminal
  2. XM_011525553.3XP_011523855.1  mediator of RNA polymerase II transcription subunit 13 isoform X3

    Conserved Domains (2) summary
    pfam06333
    Location:14171938
    Med13_C; Mediator complex subunit 13 C-terminal
    pfam11597
    Location:35161
    Med13_N; Mediator complex subunit 13 N-terminal
  3. XM_011525552.2XP_011523854.1  mediator of RNA polymerase II transcription subunit 13 isoform X2

    Conserved Domains (2) summary
    pfam06333
    Location:16401972
    Med13_C; Mediator complex subunit 13 C-terminal
    pfam11597
    Location:14384
    Med13_N; Mediator complex subunit 13 N-terminal
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