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

Gene ID: 9439, updated on 27-Nov-2024

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; AllianceGenome:HGNC:2372
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:
34
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (131573966..131628313, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (132768443..132822783, complement)
RS_2024_09 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 MED14-independent group 3 enhancer GRCh37_chr6:131677980-131679179 Neighboring gene ribosomal protein L21 pseudogene 67 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131825416-131826081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:131852503-131853004 Neighboring gene NANOG hESC enhancer GRCh37_chr6:131893832-131894333 Neighboring gene arginase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17546 Neighboring gene RNA, U4 small nuclear 18, pseudogene Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:132021641-132022226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:132022227-132022812 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
Intellectual disability, autosomal recessive 18
MedGen: C3280265 OMIM: 614249 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-Wide Association Study of L-Arginine and Dimethylarginines Reveals Novel Metabolic Pathway for Symmetric Dimethylarginine.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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
 
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
vitamin D3 receptor interacting protein

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.

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/TrEMBL
    Q5JWT2
    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/TrEMBL
    Q5JWT2
    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
    UniProtKB/TrEMBL
    Q5JWT2
    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
    UniProtKB/TrEMBL
    Q5JWT2
    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
    UniProtKB/TrEMBL
    Q5JWT2
    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
    UniProtKB/TrEMBL
    Q5JWT2
    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
    UniProtKB/TrEMBL
    Q5JWT2
    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
    UniProtKB/TrEMBL
    Q5JWT2
    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
    UniProtKB/TrEMBL
    Q5JWT2
    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
    UniProtKB/TrEMBL
    Q5JWT2
    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
    B9TX55, O95403, Q5JWT3, Q5JWT4, Q6P9H6, Q9H0J2, Q9NTT9, Q9NTU0, Q9ULK4, Q9Y5P7, Q9Y667
    UniProtKB/TrEMBL
    Q5JWT2
    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/TrEMBL
    Q5JWT2
    Related
    ENSP00000346588.4, ENST00000354577.8
    Conserved Domains (1) summary
    pfam11573
    Location:11313
    Med23; Mediator complex subunit 23

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_000006.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011536257.4XP_011534559.1  mediator of RNA polymerase II transcription subunit 23 isoform X1

    See identical proteins and their annotated locations for XP_011534559.1

    UniProtKB/TrEMBL
    Q5JWT2
    Conserved Domains (1) summary
    pfam11573
    Location:11275
    Med23; Mediator complex subunit 23
  2. XM_047419565.1XP_047275521.1  mediator of RNA polymerase II transcription subunit 23 isoform X2

  3. XM_006715612.4XP_006715675.1  mediator of RNA polymerase II transcription subunit 23 isoform X3

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    132768443..132822783 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356828.1XP_054212803.1  mediator of RNA polymerase II transcription subunit 23 isoform X1

  2. XM_054356829.1XP_054212804.1  mediator of RNA polymerase II transcription subunit 23 isoform X2

  3. XM_054356830.1XP_054212805.1  mediator of RNA polymerase II transcription subunit 23 isoform X3