PHC1

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

PHC1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPHC1, EDR1, HPH1, MCPH11, RAE28, polyhomeotic homolog 1
External IDsOMIM: 602978 MGI: 103248 HomoloGene: 107079 GeneCards: PHC1
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12p13.31Start8,913,896 bp[1]
End8,941,467 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1911

13619

Ensembl

ENSG00000111752

ENSMUSG00000040669

UniProt

P78364

Q64028

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 MbChr 6: 122.32 – 122.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

References

  1. GRCh38: Ensembl release 89: ENSG00000111752 - Ensembl, May 2017
  2. 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. 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. "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

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