PHC1
| Polyhomeotic homolog 1 (Drosophila) | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | PHC1 ; EDR1; HPH1; MCPH11; RAE28 | ||||||||||||
| External IDs | OMIM: 602978 HomoloGene: 107079 GeneCards: PHC1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Species | Human | Mouse | |||||||||||
| Entrez | 1911 | 13619 | |||||||||||
| Ensembl | ENSG00000111752 | ENSMUSG00000040669 | |||||||||||
| UniProt | P78364 | Q64028 | |||||||||||
| RefSeq (mRNA) | NM_004426 | NM_001042623 | |||||||||||
| RefSeq (protein) | NP_004417 | NP_001036088 | |||||||||||
| Location (UCSC) | Chr 12: 9.07 – 9.09 Mb | Chr 6: 122.32 – 122.34 Mb | |||||||||||
| PubMed search | |||||||||||||
Polyhomeotic-like protein 1 is a protein that in humans is encoded by the PHC1 gene.[1][2]
This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein.[2]
Mutations in this gene have been associated to cases of primary microcephaly (doi: 10.1093/hmg/ddt072).
Interactions
PHC1 has been shown to interact with BMI1[1][3] and PHC2.[1][4]
References
- ↑ 1.0 1.1 1.2 Gunster MJ, Satijn DP, Hamer KM, den Blaauwen JL, de Bruijn D, Alkema MJ, van Lohuizen M, van Driel R, Otte AP (Apr 1997). "Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic". Mol Cell Biol 17 (4): 2326–35. PMC 232081. PMID 9121482.
- ↑ 2.0 2.1 "Entrez Gene: PHC1 polyhomeotic homolog 1 (Drosophila)".
- ↑ Satijn, D P; Gunster M J; van der Vlag J; Hamer K M; Schul W; Alkema M J; Saurin A J; Freemont P S; van Driel R; Otte A P (Jul 1997). "RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor". Mol. Cell. Biol. (UNITED STATES) 17 (7): 4105–13. ISSN 0270-7306. PMC 232264. PMID 9199346.
- ↑ Rual, Jean-François; Venkatesan Kavitha, Hao Tong, Hirozane-Kishikawa Tomoko, Dricot Amélie, Li Ning, Berriz Gabriel F, Gibbons Francis D, Dreze Matija, Ayivi-Guedehoussou Nono, Klitgord Niels, Simon Christophe, Boxem Mike, Milstein Stuart, Rosenberg Jennifer, Goldberg Debra S, Zhang Lan V, Wong Sharyl L, Franklin Giovanni, Li Siming, Albala Joanna S, Lim Janghoo, Fraughton Carlene, Llamosas Estelle, Cevik Sebiha, Bex Camille, Lamesch Philippe, Sikorski Robert S, Vandenhaute Jean, Zoghbi Huda Y, Smolyar Alex, Bosak Stephanie, Sequerra Reynaldo, Doucette-Stamm Lynn, Cusick Michael E, Hill David E, Roth Frederick P, Vidal Marc (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature (England) 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Further reading
- Alkema MJ, Bronk M, Verhoeven E et al. (1997). "Identification of Bmi1-interacting proteins as constituents of a multimeric mammalian polycomb complex.". Genes Dev. 11 (2): 226–40. doi:10.1101/gad.11.2.226. PMID 9009205.
- Satijn DP, Gunster MJ, van der Vlag J et al. (1997). "RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor.". Mol. Cell. Biol. 17 (7): 4105–13. PMC 232264. PMID 9199346.
- Tomotsune D, Takihara Y, Berger J et al. (2000). "A novel member of murine Polycomb-group proteins, Sex comb on midleg homolog protein, is highly conserved, and interacts with RAE28/mph1 in vitro.". Differentiation 65 (4): 229–39. doi:10.1046/j.1432-0436.1999.6540229.x. PMID 10653359.
- Ohta H, Tokimasa S, Zou Z et al. (2000). "Structure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene.". DNA Seq. 11 (1–2): 61–73. doi:10.3109/10425170009033970. PMID 10902910.
- Levine SS, Weiss A, Erdjument-Bromage H et al. (2002). "The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans". Mol. Cell. Biol. 22 (17): 6070–8. doi:10.1128/MCB.22.17.6070-6078.2002. PMC 134016. PMID 12167701.
- Suzuki M, Mizutani-Koseki Y, Fujimura Y et al. (2002). "Involvement of the Polycomb-group gene Ring1B in the specification of the anterior-posterior axis in mice". Development 129 (18): 4171–83. PMID 12183370.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Luo L, Yang X, Takihara Y et al. (2004). "The cell-cycle regulator geminin inhibits Hox function through direct and polycomb-mediated interactions". Nature 427 (6976): 749–53. doi:10.1038/nature02305. PMID 14973489.
- Brandenberger R, Wei H, Zhang S et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
- Wang H, Wang L, Erdjument-Bromage H et al. (2004). "Role of histone H2A ubiquitination in Polycomb silencing". Nature 431 (7010): 873–8. doi:10.1038/nature02985. PMID 15386022.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Voncken JW, Niessen H, Neufeld B et al. (2005). "MAPKAP kinase 3pK phosphorylates and regulates chromatin association of the polycomb group protein Bmi1". J. Biol. Chem. 280 (7): 5178–87. doi:10.1074/jbc.M407155200. PMID 15563468.
- Rual JF, Venkatesan K, Hao T et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.