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    MED23 mediator complex subunit 23 [ Homo sapiens (human) ]

    Gene ID: 9439, updated on 5-Nov-2017
    Official Symbol
    MED23provided by HGNC
    Official Full Name
    mediator complex subunit 23provided by HGNC
    Primary source
    HGNC:HGNC:2372
    See related
    Ensembl:ENSG00000112282 MIM:605042; Vega:OTTHUMG00000015565
    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
    SUR2; CRSP3; MRT18; SUR-2; ARC130; CRSP130; CRSP133; DRIP130
    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. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012]
    Orthologs
    Location:
    6q23.2
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (131573966..131628239, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131895106..131949379, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378005 Neighboring gene ribosomal protein L21 pseudogene 67 Neighboring gene arginase 1 Neighboring gene RNA, U4 small nuclear 18, pseudogene Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 3 Neighboring gene olfactory receptor family 2 subfamily A member 4

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Mental retardation, autosomal recessive 18
    MedGen: C3280265 OMIM: 614249 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-Wide Association Study of L-Arginine and Dimethylarginines Reveals Novel Metabolic Pathway for Symmetric Dimethylarginine.
    NHGRI GWA Catalog
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
      Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • PPARA activates gene expression, organism-specific biosystem (from REACTOME)
      PPARA activates gene expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
    • Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
      Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
    • Transcriptional regulation of white adipocyte differentiation, organism-specific biosystem (from REACTOME)
      Transcriptional regulation of white adipocyte differentiation, organism-specific biosystemAdipogenesis is the process of cell differentiation by which preadipocytes become adipocytes. During this process the preadipocytes cease to proliferate, begin to accumulate lipid droplets and develo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp434H0117

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    transcription factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    mediator of RNA polymerase II transcription subunit 23
    Names
    130 kDa transcriptional co-activator
    133 kDa transcriptional co-activator
    activator-recruited cofactor 130 kDa component
    cofactor required for Sp1 transcriptional activation subunit 3
    vitamin D3 receptor interacting protein

    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_031860.1 RefSeqGene

      Range
      4985..59258
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001270521.1NP_001257450.1  mediator of RNA polymerase II transcription subunit 23 isoform c

      See identical proteins and their annotated locations for NP_001257450.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction in the 3' end compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AW295188, BC007088, BC060759, DB453121
      UniProtKB/Swiss-Prot
      Q9ULK4
      UniProtKB/TrEMBL
      Q05DL5
      Conserved Domains (1) summary
      pfam11573
      Location:11307
      Med23; Mediator complex subunit 23
    2. NM_001270522.1NP_001257451.1  mediator of RNA polymerase II transcription subunit 23 isoform d

      See identical proteins and their annotated locations for NP_001257451.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction in the 3' end compared to variant 1. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AB033042, AF135022, AI249380, DB453121
      Consensus CDS
      CCDS59039.1
      UniProtKB/Swiss-Prot
      Q9ULK4
      Related
      ENSP00000357039.3, OTTHUMP00000017208, ENST00000368060.7, OTTHUMT00000042219
      Conserved Domains (1) summary
      pfam11573
      Location:11307
      Med23; Mediator complex subunit 23
    3. NM_004830.3NP_004821.2  mediator of RNA polymerase II transcription subunit 23 isoform a

      See identical proteins and their annotated locations for NP_004821.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB033042, AI249380, DB453121
      Consensus CDS
      CCDS5147.1
      UniProtKB/Swiss-Prot
      Q9ULK4
      Related
      ENSP00000357047.3, OTTHUMP00000017204, ENST00000368068.7, OTTHUMT00000042215
      Conserved Domains (1) summary
      pfam11573
      Location:11307
      Med23; Mediator complex subunit 23
    4. NM_015979.3NP_057063.2  mediator of RNA polymerase II transcription subunit 23 isoform b

      See identical proteins and their annotated locations for NP_057063.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon and uses an alternate splice junction in the 3' end compared to variant 1. The resulting isoform (b) contains an alternate short internal segment and is shorter at the C-terminus compared to isoform a.
      Source sequence(s)
      AL136776, AW295188, BC060759, DB453121
      Consensus CDS
      CCDS5146.1
      UniProtKB/Swiss-Prot
      Q9ULK4
      Related
      ENSP00000346588.4, OTTHUMP00000017206, ENST00000354577.8, OTTHUMT00000042217
      Conserved Domains (1) summary
      pfam11573
      Location:11313
      Med23; Mediator complex subunit 23

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      131573966..131628239 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536257.2XP_011534559.1  mediator of RNA polymerase II transcription subunit 23 isoform X2

      See identical proteins and their annotated locations for XP_011534559.1

      Conserved Domains (1) summary
      pfam11573
      Location:11275
      Med23; Mediator complex subunit 23
    2. XM_005267223.2XP_005267280.1  mediator of RNA polymerase II transcription subunit 23 isoform X1

      See identical proteins and their annotated locations for XP_005267280.1

      Related
      ENSP00000357037.1, OTTHUMP00000017207, ENST00000368058.5, OTTHUMT00000042218
      Conserved Domains (1) summary
      pfam11573
      Location:11313
      Med23; Mediator complex subunit 23
    3. XM_017011501.1XP_016866990.1  mediator of RNA polymerase II transcription subunit 23 isoform X3

    4. XM_006715612.2XP_006715675.1  mediator of RNA polymerase II transcription subunit 23 isoform X4

      Related
      ENSP00000357032.4, OTTHUMP00000017205, ENST00000368053.8, OTTHUMT00000042216
      Conserved Domains (1) summary
      pfam11573
      Location:1746
      Med23; Mediator complex subunit 23

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      132158892..132213170 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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