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

Gene ID: 9439, updated on 22-Jan-2020

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

Genomic context

See MED23 in Genome Data Viewer
Location:
6q23.2
Exon count:
35
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (131573966..131628313, 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

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
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

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
positive regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mediator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor 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)

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
  4. NM_001376518.1NP_001363447.1  mediator of RNA polymerase II transcription subunit 23 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL121575
  5. NM_001376519.1NP_001363448.1  mediator of RNA polymerase II transcription subunit 23 isoform g

    Status: REVIEWED

    Source sequence(s)
    AL121575
  6. NM_001376520.1NP_001363449.1  mediator of RNA polymerase II transcription subunit 23 isoform h

    Status: REVIEWED

    Source sequence(s)
    AL121575
  7. NM_001376521.1NP_001363450.1  mediator of RNA polymerase II transcription subunit 23 isoform i

    Status: REVIEWED

    Source sequence(s)
    AL121575
  8. NM_001376522.1NP_001363451.1  mediator of RNA polymerase II transcription subunit 23 isoform j

    Status: REVIEWED

    Source sequence(s)
    AL121575
  9. NM_001376523.1NP_001363452.1  mediator of RNA polymerase II transcription subunit 23 isoform k

    Status: REVIEWED

    Source sequence(s)
    AL121575
  10. NM_001376524.1NP_001363453.1  mediator of RNA polymerase II transcription subunit 23 isoform l

    Status: REVIEWED

    Source sequence(s)
    AL121575
  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 109.20191205

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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