PHC1

Last updated
PHC1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PHC1 , EDR1, HPH1, MCPH11, RAE28, polyhomeotic homolog 1
External IDs OMIM: 602978 MGI: 103248 HomoloGene: 107079 GeneCards: PHC1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004426

NM_001042623
NM_001271579
NM_007905
NM_001355215

RefSeq (protein)

NP_004417

NP_001036088
NP_001258508
NP_031931
NP_001342144

Location (UCSC) Chr 12: 8.91 – 8.94 Mb Chr 6: 122.32 – 122.34 Mb
PubMed search [3] [4]
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]

Contents

Function

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 this gene and the EDR2 protein. [6]

Mutations in this gene have been associated to cases of primary microcephaly. [7]

Interactions

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

Related Research Articles

Polycomb-group proteins are a family of protein complexes first discovered in fruit flies that can remodel chromatin such that epigenetic silencing of genes takes place. Polycomb-group proteins are well known for silencing Hox genes through modulation of chromatin structure during embryonic development in fruit flies. They derive their name from the fact that the first sign of a decrease in PcG function is often a homeotic transformation of posterior legs towards anterior legs, which have a characteristic comb-like set of bristles.

EZH2

Enhancer of zeste homolog 2 (EZH2) is a histone-lysine N-methyltransferase enzyme encoded by EZH2 gene, that participates in histone methylation and, ultimately, transcriptional repression. EZH2 catalyzes the addition of methyl groups to histone H3 at lysine 27, by using the cofactor S-adenosyl-L-methionine. Methylation activity of EZH2 facilitates heterochromatin formation thereby silences gene function. Remodeling of chromosomal heterochromatin by EZH2 is also required during cell mitosis.

BMI1

Polycomb complex protein BMI-1 also known as polycomb group RING finger protein 4 (PCGF4) or RING finger protein 51 (RNF51) is a protein that in humans is encoded by the BMI1 gene. BMI1 is a polycomb ring finger oncogene.

Homeobox protein Nkx-2.5

Homeobox protein Nkx-2.5 is a protein that in humans is encoded by the NKX2.5 gene.

ELAC2

Zinc phosphodiesterase ELAC protein 2 is an enzyme that in humans is encoded by the ELAC2 gene. on chromosome 17. It is an endonuclease thought to be involved in mitochondrial tRNA maturation,

RNF2

E3 ubiquitin-protein ligase RING2 is an enzyme that in humans is encoded by the RNF2 gene.

Polycomb protein EED Protein-coding gene in the species Homo sapiens

Polycomb protein EED is a protein that in humans is encoded by the EED gene.

CTBP2

C-terminal-binding protein 2 also known as CtBP2 is a protein that in humans is encoded by the CTBP2 gene.

RING1

E3 ubiquitin-protein ligase RING1 is an enzyme that in humans is encoded by the RING1 gene.

PCGF2

Polycomb group RING finger protein 2 is a protein that in humans is encoded by the PCGF2 gene.

PHC2

Polyhomeotic-like protein 2 is a protein that in humans is encoded by the PHC2 gene.

DNAJA2

DnaJ homolog subfamily A member 2 is a protein that in humans is encoded by the DNAJA2 gene.

CBX5 (gene)

Chromobox protein homolog 5 is a protein that in humans is encoded by the CBX5 gene. It is a highly conserved, non-histone protein part of the heterochromatin family. The protein itself is more commonly called HP1α. Heterochromatin protein-1 (HP1) has an N-terminal domain that acts on methylated lysines residues leading to epigenetic repression. The C-terminal of this protein has a chromo shadow-domain (CSD) that is responsible for homodimerizing, as well as interacting with a variety of chromatin-associated, non-histone proteins.

ASH2L

Set1/Ash2 histone methyltransferase complex subunit ASH2 is an enzyme that in humans is encoded by the ASH2L gene.

SCMH1

Polycomb protein SCMH1 is a protein that in humans is encoded by the SCMH1 gene.

RYBP

RING1 and YY1-binding protein is a protein that in humans is encoded by the RYBP gene.

CBX8

Chromobox protein homolog 8 is a protein that in humans is encoded by the CBX8 gene.

CBX2 (gene)

Chromobox protein homolog 2 is a protein that in humans is encoded by the CBX2 gene. According to a New Scientist article CBX2 controls human sex even more so than X/Y chromosomes.

M33 is a gene. It is a mammalian homologue of Drosophila Polycomb. It localises to euchromatin within interphase nuclei, but it is enriched within the centromeric heterochromatin of metaphase chromosomes. In mice, the official symbol of M33 gene styled Cbx2 and the official name chromobox 2 are maintained by the MGI. Also known as pc; MOD2. In human ortholog CBX2, synonyms CDCA6, M33,SRXY5 from orthology source HGNC. M33 was isolated by means of the structural similarity of its chromodomain. It contains a region of homology shared by Xenopus and Drosophila in the fifth exon. Polycomb genes in Drosophila mediate changes in higher-order chromatin structure to maintain the repressed state of developmentally regulated genes. M33 deficiency interferes with steps upstream of the Y-chromosome-specific SRY gene may cause sex reversal. It may also involved in the campomelic syndrome and neoplastic disorders linked to allele loss in this region. Disruption of the murine M33 gene, displayed posterior transformation of the sternal ribs and vertebral columns.

Enhancer of polycomb homolog 2 (drosophila)

Enhancer of polycomb homolog 2 (Drosophila) is a protein that in humans is encoded by the EPC2 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000111752 - Ensembl, May 2017
  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.
  5. 1 2 3 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". Molecular and Cellular Biology. 17 (4): 2326–35. doi:10.1128/mcb.17.4.2326. PMC   232081 . PMID   9121482.
  6. 1 2 "Entrez Gene: PHC1 polyhomeotic homolog 1 (Drosophila)".
  7. Awad, Salma; Al-Dosari, Mohammed S; Al-Yacoub, Nadya; Colak, Dilek; Salih, Mustafa A; Alkuraya, Fowzan S; Poizat, Coralie (2013-06-01). "Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis". Human Molecular Genetics. 22 (11): 2200–2213. doi: 10.1093/hmg/ddt072 . ISSN   1460-2083. PMID   23418308.
  8. Satijn DP, Gunster MJ, van der Vlag J, Hamer KM, Schul W, Alkema MJ, Saurin AJ, Freemont PS, van Driel R, Otte AP (Jul 1997). "RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor". Molecular and Cellular Biology. 17 (7): 4105–13. doi:10.1128/mcb.17.7.4105. PMC   232264 . PMID   9199346.
  9. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.

Further reading