Human Gene MED25 (ENST00000312865.10_5) from GENCODE V47lift37
  Description: mediator complex subunit 25, transcript variant 1 (from RefSeq NM_030973.4)
Gencode Transcript: ENST00000312865.10_5
Gencode Gene: ENSG00000104973.19_12
Transcript (Including UTRs)
   Position: hg19 chr19:50,321,546-50,340,236 Size: 18,691 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr19:50,321,599-50,340,201 Size: 18,603 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
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 (chr19:50,321,546-50,340,236)mRNA (may differ from genome)Protein (747 aa)
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-  Comments and Description Text from UniProtKB
  ID: MED25_HUMAN
DESCRIPTION: RecName: Full=Mediator of RNA polymerase II transcription subunit 25; AltName: Full=Activator interaction domain-containing protein 1; AltName: Full=Activator-recruited cofactor 92 kDa component; Short=ARC92; AltName: Full=Mediator complex subunit 25; AltName: Full=p78;
FUNCTION: 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 RARA/RXRA-mediated transcription.
SUBUNIT: 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 CREBBP. Interacts with ESR1, GR, RARA, RXRA and THRB in a ligand-dependent fashion. Binds the Herpes simplex virus activator VP16.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Ubiquitously expressed. Highest levels in brain, heart, kidney, peripheral leukocytes, placenta, skeletal muscle and spleen.
DISEASE: Defects in MED25 are the cause of Charcot-Marie-Tooth disease type 2B2 (CMT2B2) [MIM:605589]. It is a recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies(designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.
SIMILARITY: Belongs to the Mediator complex subunit 25 family.
SEQUENCE CAUTION: Sequence=AAG15589.1; Type=Erroneous initiation; Sequence=CAB66680.1; Type=Frameshift; Positions=567;

-  Primer design for this transcript
 

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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: MED25
Diseases sorted by gene-association score: basel-vanagait-smirin-yosef syndrome* (1650), charcot-marie-tooth disease, type 2b2* (1326), autosomal recessive non-syndromic intellectual disability* (65), tooth disease (11), charcot-marie-tooth disease (8), syndromic intellectual disability (8), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 77.16 RPKM in Testis
Total median expression: 1021.36 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 -24.3053-0.458 Picture PostScript Text
3' UTR 0.00350.000 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
IPR021394 - Mediator_Med25
IPR021406 - Mediator_Med25_NR-box
IPR021397 - Mediator_Med25_SD1
IPR021419 - Mediator_Med25_VWA

Pfam Domains:
PF11232 - Mediator complex subunit 25 PTOV activation and synapsin 2
PF11235 - Mediator complex subunit 25 synapsin 1
PF11244 - Mediator complex subunit 25 C-terminal NR box-containing
PF11265 - Mediator complex subunit 25 von Willebrand factor type A

SCOP Domains:
53300 - vWA-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KY6 - NMR MuPIT 2L23 - NMR MuPIT 2L6U - NMR MuPIT 2XNF - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q71SY5
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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 orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0042974 retinoic acid receptor binding
GO:0046965 retinoid X receptor binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0035563 positive regulation of chromatin binding
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048147 negative regulation of fibroblast proliferation
GO:0071158 positive regulation of cell cycle arrest
GO:2001178 positive regulation of mediator complex assembly

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0044798 nuclear transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  AK289460 - Homo sapiens cDNA FLJ75380 complete cds, highly similar to Homo sapiens mediator of RNA polymerase II transcription, subunit 25 homolog (yeast) (MED25), mRNA.
AK055844 - Homo sapiens cDNA FLJ31282 fis, clone KIDNE2006775, highly similar to Homo sapiens mediator of RNA polymerase II transcription, subunit 25 homolog (yeast) (MED25), mRNA.
AK298897 - Homo sapiens cDNA FLJ60328 complete cds, highly similar to Homo sapiens mediator of RNA polymerase II transcription, subunit 25 homolog (yeast) (MED25), mRNA.
AF261072 - Homo sapiens p78 mRNA, complete cds.
AJ617479 - Homo sapiens mRNA for activator interaction domain 1 protein (ACID1 gene).
AL136746 - Homo sapiens mRNA; cDNA DKFZp434K0512 (from clone DKFZp434K0512).
BC065297 - Homo sapiens mediator complex subunit 25, mRNA (cDNA clone MGC:70671 IMAGE:6138600), complete cds.
EU832505 - Synthetic construct Homo sapiens clone HAIB:100067534; DKFZo008G0129 mediator complex subunit 25 protein (MED25) gene, encodes complete protein.
EU832586 - Synthetic construct Homo sapiens clone HAIB:100067615; DKFZo004G0130 mediator complex subunit 25 protein (MED25) gene, encodes complete protein.
EU392500 - Homo sapiens mediator complex subunit MED25 variant MED25_i3 (MED25) mRNA, complete cds, alternatively spliced.
EU392501 - Homo sapiens mediator complex subunit MED25 variant MED25_i4 (MED25) mRNA, complete cds, alternatively spliced.
EU392502 - Homo sapiens mediator complex subunit MED25 variant MED25_i5 (MED25) mRNA, partial cds, alternatively spliced.
EU392503 - Homo sapiens mediator complex subunit MED25 variant MED25_i6 (MED25) mRNA, complete cds, alternatively spliced.
EU392504 - Homo sapiens mediator complex subunit MED25 variant MED25_i7 (MED25) mRNA, partial cds, alternatively spliced.
EU392505 - Homo sapiens mediator complex subunit MED25 variant MED25_i8 (MED25) mRNA, partial cds, alternatively spliced.
EU392506 - Homo sapiens mediator complex subunit MED25 variant MED25_i9 (MED25) mRNA, complete cds, alternatively spliced.
EU392507 - Homo sapiens mediator complex subunit MED25 variant MED25_i10 (MED25) mRNA, complete cds, alternatively spliced.
EU392508 - Homo sapiens mediator complex subunit MED25 variant MED25_i11 (MED25) mRNA, partial cds, alternatively spliced.
EU392509 - Homo sapiens mediator complex subunit MED25 variant MED25_i12 (MED25) mRNA, partial cds, alternatively spliced.
EU392510 - Homo sapiens mediator complex subunit MED25 variant MED25_i13 (MED25) mRNA, complete cds, alternatively spliced.
EU392511 - Homo sapiens mediator complex subunit MED25 variant MED25_i14 (MED25) mRNA, complete cds, alternatively spliced.
EU392512 - Homo sapiens mediator complex subunit MED25 variant MED25_i15 (MED25) mRNA, complete cds, alternatively spliced.
EU392513 - Homo sapiens mediator complex subunit MED25 variant MED25_i16 (MED25) mRNA, complete cds, alternatively spliced.
EU392514 - Homo sapiens mediator complex subunit MED25 variant MED25_i17 (MED25) mRNA, complete cds, alternatively spliced.
EU392515 - Homo sapiens mediator complex subunit MED25 variant MED25_i18 (MED25) mRNA, complete cds, alternatively spliced.
EU392516 - Homo sapiens mediator complex subunit MED25 variant MED25_i19 (MED25) mRNA, complete cds, alternatively spliced.
EU392517 - Homo sapiens mediator complex subunit MED25 variant MED25_i20 (MED25) mRNA, complete cds, alternatively spliced.
EU392518 - Homo sapiens mediator complex subunit MED25 variant MED25_i21 (MED25) mRNA, complete cds, alternatively spliced.
EU392519 - Homo sapiens mediator complex subunit MED25 variant MED25_i22 (MED25) mRNA, complete sequence, alternatively spliced.
AY533507 - Homo sapiens ARC/mediator transcriptional coactivator subunit (ARC92) mRNA, complete cds, alternatively spliced.
BC021543 - Homo sapiens mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4053307).
AK307330 - Homo sapiens cDNA, FLJ97278.
JD538177 - Sequence 519201 from Patent EP1572962.
BC024312 - Homo sapiens mediator complex subunit 25, mRNA (cDNA clone IMAGE:3889030), partial cds.
AF283769 - Homo sapiens hypothetical protein mRNA, partial cds.
AF447873 - Homo sapiens FP3184 mRNA, complete cds.
EU392499 - Homo sapiens mediator complex subunit MED25 variant MED25_i2 (MED25) mRNA, partial cds, alternatively spliced.

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

Protein Q71SY5 (Reactome details) participates in the following event(s):

R-HSA-212352 Formation of ARC 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: A8K095, ACID1, ARC92, B9TX30, ENST00000312865.1, ENST00000312865.2, ENST00000312865.3, ENST00000312865.4, ENST00000312865.5, ENST00000312865.6, ENST00000312865.7, ENST00000312865.8, ENST00000312865.9, MED25_HUMAN, NM_030973, O95783, PTOV2, Q6P143, Q6QMH5, Q707U4, Q71SY5, Q8TB55, Q9H0L5, Q9HB34, TCBAP0758, uc317phg.1, uc317phg.2
UCSC ID: ENST00000312865.10_5
RefSeq Accession: NM_030973.4
Protein: Q71SY5 (aka MED25_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.