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

    Gene ID: 9439, updated on 25-Nov-2021

    Summary

    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
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.5), lymph node (RPKM 8.5) and 25 other tissues See more
    Orthologs
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    Genomic context

    See MED23 in Genome Data Viewer
    Location:
    6q23.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (131573966..131628313, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131895106..131949453, 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

    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
    Genome-Wide Association Study of L-Arginine and Dimethylarginines Reveals Novel Metabolic Pathway for Symmetric Dimethylarginine.
    GeneReviews: Not available
    Mental retardation, autosomal recessive 18
    MedGen: C3280265 OMIM: 614249 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp434H0117

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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
    mental retardation, non-syndromic, autosomal recessive, 18
    vitamin D3 receptor interacting protein

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_031860.2 RefSeqGene

      Range
      4982..59258
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001270521.2NP_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)
      AL121575, 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_001270522.2NP_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, AL121575, DB453121
      Consensus CDS
      CCDS59039.1
      UniProtKB/Swiss-Prot
      Q9ULK4
      Related
      ENSP00000357039.3, ENST00000368060.7
      Conserved Domains (1) summary
      pfam11573
      Location:11307
      Med23; Mediator complex subunit 23
    3. NM_001376517.1NP_001363446.1  mediator of RNA polymerase II transcription subunit 23 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (e).
      Source sequence(s)
      AL121575
      Related
      ENSP00000357037.1, ENST00000368058.5
      Conserved Domains (1) summary
      pfam11573
      Location:11313
      Med23; Mediator complex subunit 23
    4. NM_001376518.1NP_001363447.1  mediator of RNA polymerase II transcription subunit 23 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL121575
      Conserved Domains (1) summary
      pfam11573
      Location:11289
      Med23; Mediator complex subunit 23
    5. NM_001376519.1NP_001363448.1  mediator of RNA polymerase II transcription subunit 23 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL121575
      Conserved Domains (1) summary
      pfam11573
      Location:11261
      Med23; Mediator complex subunit 23
    6. NM_001376520.1NP_001363449.1  mediator of RNA polymerase II transcription subunit 23 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL121575
      Conserved Domains (1) summary
      pfam11573
      Location:11260
      Med23; Mediator complex subunit 23
    7. NM_001376521.1NP_001363450.1  mediator of RNA polymerase II transcription subunit 23 isoform i

      Status: REVIEWED

      Source sequence(s)
      AL121575
      Conserved Domains (1) summary
      pfam11573
      Location:11261
      Med23; Mediator complex subunit 23
    8. NM_001376522.1NP_001363451.1  mediator of RNA polymerase II transcription subunit 23 isoform j

      Status: REVIEWED

      Source sequence(s)
      AL121575
      Conserved Domains (1) summary
      pfam11573
      Location:11250
      Med23; Mediator complex subunit 23
    9. NM_001376523.1NP_001363452.1  mediator of RNA polymerase II transcription subunit 23 isoform k

      Status: REVIEWED

      Source sequence(s)
      AL121575
      Conserved Domains (1) summary
      pfam11573
      Location:11222
      Med23; Mediator complex subunit 23
    10. NM_001376524.1NP_001363453.1  mediator of RNA polymerase II transcription subunit 23 isoform l

      Status: REVIEWED

      Source sequence(s)
      AL121575
      Conserved Domains (1) summary
      pfam11573
      Location:11178
      Med23; Mediator complex subunit 23
    11. NM_004830.4NP_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) encodes isoform a.
      Source sequence(s)
      AB033042, AI249380, AL121575, DB453121
      Consensus CDS
      CCDS5147.1
      UniProtKB/Swiss-Prot
      Q9ULK4
      Related
      ENSP00000357047.3, ENST00000368068.8
      Conserved Domains (1) summary
      pfam11573
      Location:11307
      Med23; Mediator complex subunit 23
    12. NM_015979.4NP_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)
      AL121575, AL136776, AW295188, BC060759, DB453121
      Consensus CDS
      CCDS5146.1
      UniProtKB/Swiss-Prot
      Q9ULK4
      Related
      ENSP00000346588.4, ENST00000354577.8
      Conserved Domains (1) summary
      pfam11573
      Location:11313
      Med23; Mediator complex subunit 23

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      131573966..131628313 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536257.3XP_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_017011501.1XP_016866990.1  mediator of RNA polymerase II transcription subunit 23 isoform X3

    3. XM_006715612.3XP_006715675.1  mediator of RNA polymerase II transcription subunit 23 isoform X4

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