PHC1

PHC1
Identifiers
Aliases	PHC1, EDR1, HPH1, MCPH11, RAE28, polyhomeotic homolog 1
External IDs	OMIM: 602978; MGI: 103248; GeneCards: PHC1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2L8E
Gene location (Human)
Chr.	Chromosome 12 (human)
End	8,941,467 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	122,317,520 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; anterior pituitary; ; right hemisphere of cerebellum; ; ganglionic eminence; ; ventricular zone; ; canal of the cervix; ; body of uterus; ; left ovary; ; right lobe of thyroid gland; ; right testis;
	Top expressed in
	seminiferous tubule; ; epiblast; ; genital tubercle; ; tail of embryo; ; medulla of thymus; ; Gonadal ridge; ; primitive streak; ; mandibular prominence; ; maxillary prominence; ; internal carotid artery;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; zinc ion binding; metal ion binding; protein binding;
Cellular component	PcG protein complex; PRC1 complex; nucleus; nucleoplasm;
Biological process	multicellular organism development; histone ubiquitination; negative regulation of G0 to G1 transition;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	1911
	13619
	ENSG00000111752
	ENSMUSG00000040669
	P78364
	Q64028
	NM_004426
	NM_001042623; NM_001271579; NM_007905; NM_001355215
	NP_004417
NP_001036088; NP_001258508; NP_031931; NP_001342144; NP_001395176;
	NP_001395177; NP_001395178; NP_001395179
	Wikidata
View/Edit Human	View/Edit Mouse

Polyhomeotic-like protein 1 is a protein that in humans is encoded by the PHC1 gene.^[5]^[6]

Structure

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 BMI1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share two 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 the PHC1 gene and the EDR2 protein.^[6]

Function

PHC1 is a component of a polycomb group (PcG) multiprotein PRC1-like complex which represses the expression of many genes, including Hox genes. It is required for proper control of cellular levels of GMNN expression.^[7]

Interactions

PHC1 has been shown to interact with BMI1^[5]^[8] and PHC2.^[5]^[9]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000111752 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040669 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 3 Gunster MJ, Satijn DP, Hamer KM, den Blaauwen JL, de Bruijn D, Alkema MJ, et al. (April 1997). "Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic". Molecular and Cellular Biology. 17 (4): 2326–2335. doi:10.1128/mcb.17.4.2326. PMC 232081. PMID 9121482.
1 2 "Entrez Gene: PHC1 polyhomeotic homolog 1 (Drosophila)".
↑
Clinical signficance
Mutations in this gene have been associated to cases of primary microcephaly.<ref name = "Awad_2013">Awad S, Al-Dosari MS, Al-Yacoub N, Colak D, Salih MA, Alkuraya FS, et al. (June 2013). "Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis". Human Molecular Genetics. 22 (11): 2200–2213. doi:10.1093/hmg/ddt072. PMID 23418308.
↑ Satijn DP, Gunster MJ, van der Vlag J, Hamer KM, Schul W, Alkema MJ, et al. (July 1997). "RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor". Molecular and Cellular Biology. 17 (7): 4105–4113. doi:10.1128/mcb.17.7.4105. PMC 232264. PMID 9199346.
↑ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

Alkema MJ, Bronk M, Verhoeven E, Otte A, van 't Veer LJ, Berns A, et al. (January 1997). "Identification of Bmi1-interacting proteins as constituents of a multimeric mammalian polycomb complex". Genes & Development. 11 (2): 226–240. doi:10.1101/gad.11.2.226. PMID 9009205.
Tomotsune D, Takihara Y, Berger J, Duhl D, Joo S, Kyba M, et al. (December 1999). "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; Research in Biological Diversity. 65 (4): 229–239. doi:10.1046/j.1432-0436.1999.6540229.x. PMID 10653359.
Ohta H, Tokimasa S, Zou Z, Funaki S, Kurahashi H, Takahashi Y, et al. (2000). "Structure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene". DNA Sequence. 11 (1–2): 61–73. doi:10.3109/10425170009033970. PMID 10902910. S2CID 12637692.
Levine SS, Weiss A, Erdjument-Bromage H, Shao Z, Tempst P, Kingston RE (September 2002). "The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans". Molecular and Cellular Biology. 22 (17): 6070–6078. doi:10.1128/MCB.22.17.6070-6078.2002. PMC 134016. PMID 12167701.
Suzuki M, Mizutani-Koseki Y, Fujimura Y, Miyagishima H, Kaneko T, Takada Y, et al. (September 2002). "Involvement of the Polycomb-group gene Ring1B in the specification of the anterior-posterior axis in mice". Development. 129 (18). Cambridge, England: 4171–4183. doi:10.1242/dev.129.18.4171. PMID 12183370.
Luo L, Yang X, Takihara Y, Knoetgen H, Kessel M (February 2004). "The cell-cycle regulator geminin inhibits Hox function through direct and polycomb-mediated interactions". Nature. 427 (6976): 749–753. Bibcode:2004Natur.427..749L. doi:10.1038/nature02305. hdl:11858/00-001M-0000-0012-EE33-0. PMID 14973489. S2CID 8020382.
Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, et al. (June 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–716. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
Wang H, Wang L, Erdjument-Bromage H, Vidal M, Tempst P, Jones RS, et al. (October 2004). "Role of histone H2A ubiquitination in Polycomb silencing". Nature. 431 (7010): 873–878. Bibcode:2004Natur.431..873W. doi:10.1038/nature02985. PMID 15386022. S2CID 4344378.
Voncken JW, Niessen H, Neufeld B, Rennefahrt U, Dahlmans V, Kubben N, et al. (February 2005). "MAPKAP kinase 3pK phosphorylates and regulates chromatin association of the polycomb group protein Bmi1". The Journal of Biological Chemistry. 280 (7): 5178–5187. doi:10.1074/jbc.M407155200. PMID 15563468.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000111752 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040669 – 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.

[Gunster_1997-5] 1 2 3 Gunster MJ, Satijn DP, Hamer KM, den Blaauwen JL, de Bruijn D, Alkema MJ, et al. (April 1997). "Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic". Molecular and Cellular Biology. 17 (4): 2326–2335. doi:10.1128/mcb.17.4.2326. PMC 232081. PMID 9121482.

[entrez-6] 1 2 "Entrez Gene: PHC1 polyhomeotic homolog 1 (Drosophila)".

[Awad_2013-7] 
Clinical signficance
Mutations in this gene have been associated to cases of primary microcephaly.<ref name = "Awad_2013">Awad S, Al-Dosari MS, Al-Yacoub N, Colak D, Salih MA, Alkuraya FS, et al. (June 2013). "Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis". Human Molecular Genetics. 22 (11): 2200–2213. doi:10.1093/hmg/ddt072. PMID 23418308.

[Satijn_1997-8] Satijn DP, Gunster MJ, van der Vlag J, Hamer KM, Schul W, Alkema MJ, et al. (July 1997). "RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor". Molecular and Cellular Biology. 17 (7): 4105–4113. doi:10.1128/mcb.17.7.4105. PMC 232264. PMID 9199346.

[Rual_2005-9] Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

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PHC1

Structure

Function

Interactions

References

Clinical signficance

Further reading