Human Gene MED23 (ENST00000368068.8_13) from GENCODE V47lift37
  Description: mediator complex subunit 23, transcript variant 1 (from RefSeq NM_004830.4)
Gencode Transcript: ENST00000368068.8_13
Gencode Gene: ENSG00000112282.18_15
Transcript (Including UTRs)
   Position: hg19 chr6:131,907,872-131,949,382 Size: 41,511 Total Exon Count: 29 Strand: -
Coding Region
   Position: hg19 chr6:131,908,819-131,949,189 Size: 40,371 Coding Exon Count: 29 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:131,907,872-131,949,382)mRNA (may differ from genome)Protein (1368 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MED23_HUMAN
DESCRIPTION: RecName: Full=Mediator of RNA polymerase II transcription subunit 23; AltName: Full=Activator-recruited cofactor 130 kDa component; Short=ARC130; AltName: Full=Cofactor required for Sp1 transcriptional activation subunit 3; Short=CRSP complex subunit 3; AltName: Full=Mediator complex subunit 23; AltName: Full=Protein sur-2 homolog; Short=hSur-2; AltName: Full=Transcriptional coactivator CRSP130; AltName: Full=Vitamin D3 receptor-interacting protein complex 130 kDa component; Short=DRIP130;
FUNCTION: Required for transcriptional activation subsequent to the assembly of the preinitiation complex (By similarity). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Required for transcriptional activation by adenovirus E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling.
SUBUNIT: Interacts with ELK1 (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with CEBPB, CTNNB1, and GLI3. Interacts with the adenovirus E1A protein.
SUBCELLULAR LOCATION: Nucleus (Probable).
DISEASE: Defects in MED23 are the cause of mental retardation autosomal recessive type 18 (MRT18) [MIM:614249]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.
SIMILARITY: Belongs to the Mediator complex subunit 23 family.
SEQUENCE CAUTION: Sequence=AAD12724.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAD31729.1; Type=Frameshift; Positions=945, 950; Sequence=BAA86530.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MED23
Diseases sorted by gene-association score: mental retardation, autosomal recessive 18* (1329), autosomal recessive non-syndromic intellectual disability* (107), med23 (30)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.58 RPKM in Brain - Cerebellum
Total median expression: 296.03 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -75.60193-0.392 Picture PostScript Text
3' UTR -190.60947-0.201 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021629 - Mediator_Med23

Pfam Domains:
PF11573 - Mediator complex subunit 23

ModBase Predicted Comparative 3D Structure on Q9ULK4
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003713 transcription coactivator activity
GO:0005515 protein binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  AL136776 - Homo sapiens mRNA; cDNA DKFZp434H0117 (from clone DKFZp434H0117).
BC060759 - Homo sapiens mediator complex subunit 23, mRNA (cDNA clone MGC:71489 IMAGE:30348976), complete cds.
AB033042 - Homo sapiens KIAA1216 mRNA for KIAA1216 protein.
AJ420587 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 2005124.
LF208716 - JP 2014500723-A/16219: Polycomb-Associated Non-Coding RNAs.
EU392521 - Homo sapiens mediator complex subunit MED23 variant MED23_i3 (MED23) mRNA, partial cds, alternatively spliced.
EU392523 - Homo sapiens mediator complex subunit MED23 variant MED23_i5 (MED23) mRNA, partial cds, alternatively spliced.
EU392524 - Homo sapiens mediator complex subunit MED23 variant MED23_i6 (MED23) mRNA, partial cds, alternatively spliced.
EU392525 - Homo sapiens mediator complex subunit MED23 variant MED23_i7 (MED23) mRNA, partial cds, alternatively spliced.
AF105332 - Homo sapiens vitamin D3 receptor interacting protein (DRIP130) mRNA, complete cds.
JD490718 - Sequence 471742 from Patent EP1572962.
JD325575 - Sequence 306599 from Patent EP1572962.
JD292768 - Sequence 273792 from Patent EP1572962.
AF135022 - Homo sapiens mediator (Sur2) mRNA, complete cds.
LF213966 - JP 2014500723-A/21469: Polycomb-Associated Non-Coding RNAs.
JD524105 - Sequence 505129 from Patent EP1572962.
JD225519 - Sequence 206543 from Patent EP1572962.
JD269179 - Sequence 250203 from Patent EP1572962.
JD094383 - Sequence 75407 from Patent EP1572962.
AK304711 - Homo sapiens cDNA FLJ50383 complete cds, highly similar to CRSP complex subunit 3.
JD324578 - Sequence 305602 from Patent EP1572962.
AK315030 - Homo sapiens cDNA, FLJ95972.
AB385438 - Synthetic construct DNA, clone: pF1KA1216, Homo sapiens CRSP3 gene for cofactor required for Sp1 transcriptional activation, subunit 3, complete cds, without stop codon, in Flexi system.
AM393572 - Synthetic construct Homo sapiens clone IMAGE:100001705 for hypothetical protein (CRSP3 gene).
EU832308 - Synthetic construct Homo sapiens clone HAIB:100067337; DKFZo008C1227 mediator complex subunit 23 protein (MED23) gene, encodes complete protein.
EU832392 - Synthetic construct Homo sapiens clone HAIB:100067421; DKFZo004C1228 mediator complex subunit 23 protein (MED23) gene, encodes complete protein.
AF104255 - Homo sapiens transcriptional co-activator CRSP130 (CRSP130) mRNA, partial cds.
LF321982 - JP 2014500723-A/129485: Polycomb-Associated Non-Coding RNAs.
EU392520 - Homo sapiens mediator complex subunit MED23 variant MED23_i2 (MED23) mRNA, partial cds, alternatively spliced.
EU392522 - Homo sapiens mediator complex subunit MED23 variant MED23_i4 (MED23) mRNA, partial cds, alternatively spliced.
EU392527 - Homo sapiens mediator complex subunit MED23 variant MED23_i9 (MED23) mRNA, complete cds, alternatively spliced.
EU392532 - Homo sapiens mediator complex subunit MED23 variant MED23_i14 (MED23) mRNA, partial cds, alternatively spliced.
EU392526 - Homo sapiens mediator complex subunit MED23 variant MED23_i8 (MED23) mRNA, complete cds, alternatively spliced.
EU392528 - Homo sapiens mediator complex subunit MED23 variant MED23_i10 (MED23) mRNA, complete cds, alternatively spliced.
EU392529 - Homo sapiens mediator complex subunit MED23 variant MED23_i11 (MED23) mRNA, complete cds, alternatively spliced.
EU392530 - Homo sapiens mediator complex subunit MED23 variant MED23_i12 (MED23) mRNA, complete cds, alternatively spliced.
EU392531 - Homo sapiens mediator complex subunit MED23 variant MED23_i13 (MED23) mRNA, complete cds, alternatively spliced.
LF321980 - JP 2014500723-A/129483: Polycomb-Associated Non-Coding RNAs.
BC007088 - Homo sapiens mediator complex subunit 23, mRNA (cDNA clone IMAGE:4248301), partial cds.
MA449543 - JP 2018138019-A/21469: Polycomb-Associated Non-Coding RNAs.
MA557559 - JP 2018138019-A/129485: Polycomb-Associated Non-Coding RNAs.
MA557557 - JP 2018138019-A/129483: Polycomb-Associated Non-Coding RNAs.
MA444293 - JP 2018138019-A/16219: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9ULK4 (Reactome details) participates in the following event(s):

R-HSA-212352 Formation of ARC coactivator complex
R-HSA-212380 Formation of TRAP coactivator complex
R-HSA-212432 Formation of DRIP coactivator complex
R-HSA-381309 PPARG:RXRA heterodimer binds to fatty acid-like ligands
R-HSA-212436 Generic Transcription Pathway
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1266738 Developmental Biology
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ARC130, B9TX55, CRSP3, DRIP130, ENST00000368068.1, ENST00000368068.2, ENST00000368068.3, ENST00000368068.4, ENST00000368068.5, ENST00000368068.6, ENST00000368068.7, KIAA1216, MED23_HUMAN, NM_004830, O95403, Q5JWT3, Q5JWT4, Q6P9H6, Q9H0J2, Q9NTT9, Q9NTU0, Q9ULK4, Q9Y5P7, Q9Y667, SUR2, uc318glf.1, uc318glf.2
UCSC ID: ENST00000368068.8_13
RefSeq Accession: NM_004830.4
Protein: Q9ULK4 (aka MED23_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.