MED25

MED25
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KY6, 2L6U, 2XNF, 2L23
Identifiers
Aliases	MED25 , ACID1, ARC92, CMT2B2, P78, PTOV2, BVSYS, TCBAP0758, mediator complex subunit 25
External IDs	OMIM: 610197; MGI: 1922863; HomoloGene: 12614; GeneCards: MED25; OMA:MED25 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.33 Start 49,818,282 bp [1] End 49,840,383 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7 B3|7 28.95 cM Start 44,876,765 bp [2] End 44,892,712 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte right testis left testis right adrenal cortex right uterine tube left adrenal cortex blood muscle of thigh bronchial epithelial cell Top expressed in ventricular zone muscle of thigh yolk sac dentate gyrus of hippocampal formation granule cell superior frontal gyrus primary visual cortex lip epiblast spermatid molar More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transcription factor binding protein binding retinoic acid receptor binding retinoid X receptor binding Cellular component nucleus nucleoplasm mediator complex Biological process transcription initiation from RNA polymerase II promoter regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II positive regulation of chromatin binding negative regulation of fibroblast proliferation positive regulation of mediator complex assembly positive regulation of transcription by RNA polymerase II transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 81857 75613 Ensembl ENSG00000104973 ENSMUSG00000002968 UniProt Q71SY5 Q8VCB2 RefSeq (mRNA) NM_030973 NM_001378355 NM_029365 NM_001331206 NM_001331207 NM_001331208 RefSeq (protein) NP_112235 NP_001365284 NP_001318135 NP_001318136 NP_001318137 NP_083641 Location (UCSC) Chr 19: 49.82 – 49.84 Mb Chr 7: 44.88 – 44.89 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Mediator of RNA polymerase II transcription subunit 25 is an enzyme that in humans is encoded by the MED25 gene. ^{[5] [6] [7]}

Intellectual developmental disorder

A homozygous variant in the MED25 gene, leading to an arginine to trypsin substitution, was identified in seven individuals with impaired intellectual development and characteristic facial features. ^[8] The genetic variant segregated with the disorder and was not found in control populations. This putative homozygous variant arose 218 years ago in this Brazilian family. ^[9]

Interactions

MED25 has been shown to interact with MED4. ^[10]

References

1. GRCh38: Ensembl release 89: ENSG00000104973 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000002968 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Apr 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC   139146 . PMID   9110174.
6. Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
7. "Entrez Gene: MED25 mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)".
8. Figueiredo, Thalita; Melo, Uirá Souto; Pessoa, André Luiz Santos; Nobrega, Paulo Ribeiro; Kitajima, João Paulo; Correa, Igor; Zatz, Mayana; Kok, Fernando; Santos, Silvana (February 2015). "Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family". Journal of Medical Genetics. 52 (2): 123–127. doi:10.1136/jmedgenet-2014-102793.
9. de Farias, Allysson Allan; Nunes, Kelly; Lemes, Renan Barbosa; Moura, Ronald; Fernandes, Gustavo Ribeiro; Melo, Uirá Souto; Zatz, Mayana; Kok, Fernando; Santos, Silvana (8 November 2018). "Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations". Scientific Reports. 8 (1). doi:10.1038/s41598-018-35022-1. PMC   6224410 .
10. Tomomori-Sato C, Sato S, Parmely TJ, Banks CA, Sorokina I, Florens L, Zybailov B, Washburn MP, Brower CS, Conaway RC, Conaway JW (Feb 2004). "A mammalian mediator subunit that shares properties with Saccharomyces cerevisiae mediator subunit Cse2" (PDF). The Journal of Biological Chemistry. 279 (7): 5846–51. doi: 10.1074/jbc.M312523200 . PMID   14638676.

Further reading

• Näär AM, Beaurang PA, Zhou S, Abraham S, Solomon W, Tjian R (Apr 1999). "Composite co-activator ARC mediates chromatin-directed transcriptional activation". Nature. 398 (6730): 828–32. Bibcode:1999Natur.398..828N. doi:10.1038/19789. PMID   10235267. S2CID   23646963.
• Wang C, McCarty IM, Balazs L, Li Y, Steiner MS (Aug 2002). "A prostate-derived cDNA that is mapped to human chromosome 19 encodes a novel protein". Biochemical and Biophysical Research Communications. 296 (2): 281–7. doi:10.1016/S0006-291X(02)00872-0. PMID   12163014.
• Sato S, Tomomori-Sato C, Banks CA, Parmely TJ, Sorokina I, Brower CS, Conaway RC, Conaway JW (Dec 2003). "A mammalian homolog of Drosophila melanogaster transcriptional coactivator intersex is a subunit of the mammalian Mediator complex" (PDF). The Journal of Biological Chemistry. 278 (50): 49671–4. doi: 10.1074/jbc.C300444200 . PMID   14576168.
• Tomomori-Sato C, Sato S, Parmely TJ, Banks CA, Sorokina I, Florens L, Zybailov B, Washburn MP, Brower CS, Conaway RC, Conaway JW (Feb 2004). "A mammalian mediator subunit that shares properties with Saccharomyces cerevisiae mediator subunit Cse2" (PDF). The Journal of Biological Chemistry. 279 (7): 5846–51. doi: 10.1074/jbc.M312523200 . PMID   14638676.
• Mittler G, Stühler T, Santolin L, Uhlmann T, Kremmer E, Lottspeich F, Berti L, Meisterernst M (Dec 2003). "A novel docking site on Mediator is critical for activation by VP16 in mammalian cells". The EMBO Journal. 22 (24): 6494–504. doi:10.1093/emboj/cdg619. PMC   291814 . PMID   14657022.
• Yang F, DeBeaumont R, Zhou S, Näär AM (Feb 2004). "The activator-recruited cofactor/Mediator coactivator subunit ARC92 is a functionally important target of the VP16 transcriptional activator". Proceedings of the National Academy of Sciences of the United States of America. 101 (8): 2339–44. Bibcode:2004PNAS..101.2339Y. doi: 10.1073/pnas.0308676100 . PMC   356952 . PMID   14983011.
• Sato S, Tomomori-Sato C, Parmely TJ, Florens L, Zybailov B, Swanson SK, Banks CA, Jin J, Cai Y, Washburn MP, Conaway JW, Conaway RC (Jun 2004). "A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology". Molecular Cell. 14 (5): 685–91. doi: 10.1016/j.molcel.2004.05.006 . PMID   15175163.
• Zhang X, Krutchinsky A, Fukuda A, Chen W, Yamamura S, Chait BT, Roeder RG (Jul 2005). "MED1/TRAP220 exists predominantly in a TRAP/ Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription". Molecular Cell. 19 (1): 89–100. doi: 10.1016/j.molcel.2005.05.015 . PMID   15989967.
• Lee HK, Park UH, Kim EJ, Um SJ (Aug 2007). "MED25 is distinct from TRAP220/MED1 in cooperating with CBP for retinoid receptor activation". The EMBO Journal. 26 (15): 3545–57. doi:10.1038/sj.emboj.7601797. PMC   1949011 . PMID   17641689.

External links

• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2