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Gene Review

PHC1  -  polyhomeotic homolog 1 (Drosophila)

Homo sapiens

Synonyms: EDR1, Early development regulatory protein 1, HPH1, MCPH11, PH1, ...
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Disease relevance of PHC1


Psychiatry related information on PHC1

  • The tumor-associated binding characteristics of this antibody, its efficient internalization, and its human nature, make PH1-IgG1 a valuable candidate for further studies as a cancer-targeting immunotherapeutic [5].

High impact information on PHC1

  • All patients showed engraftment, and the Philadelphia chromosome (PH1) disappeared in each case [6].
  • These results indicate that a single amino acid substitution in SPT/AGT found in the PH1 case leads to a reduced half-life of this protein [7].
  • By transient transfections in beta and non-beta cells, we show that mainly PH1 and PH2 preferentially confer beta-cell-specific activation on a heterologous promoter [8].
  • Apart from the proximal promoter region, three highly homologous (PH1 to PH3) sequences were apparent in the human and mouse 5' flanking regions of the gene [8].
  • Furthermore, the PH1 enhancer element also binds the PDX-1 transcription factor itself, which acts cooperatively with adjacent HNF-3beta to regulate its transcriptional potency [8].

Chemical compound and disease context of PHC1


Biological context of PHC1

  • HPH1 and HPH2 have little sequence homology with each other, except in two highly conserved domains, designated homology domains I and II [10].
  • The HPH1 gene consists of 15 exons spanning approximately 26 kb and its structural organization is well conserved between mouse and human [11].
  • In this study we analyzed the structural organization of the human counterpart of the rae28/mph1 gene (RAE28/HPH1) and its processed pseudogene (psiPH), which are located on, respectively, human chromosome 12p13 and 12q13 [11].
  • The other two genotypes, PH1 and PC, showed very low capability of shoot regeneration (<10%) on all the media tested [12].
  • Furthermore, at least three PcG genes, Bmi1, Rae28, and Mel18, appear to regulate self-renewal of specific stem cell types suggesting a link between the maintenance of cellular homeostasis and tumorigenesis [13].

Anatomical context of PHC1


Associations of PHC1 with chemical compounds

  • To elucidate this issue we have measured the bony content of oxalate on biopsies of the iliac crest taken from 32 uremic patients, 7 of them with ESRF associated with PH1 (6 cases) or PH2 (1 case) [18].
  • The nipple and areola diameter were also significantly greater in pubic hair stage (PH)3 (5.05 and 25.24 mm) with respect to PH2 and PH1 (3.46, 2.62 mm and 19.32, 15.37 mm, respectively), in PH5 (6.79 and 35.62 mm) with respect to PH4 (6.55 and 32.56 mm) [19].
  • INTRODUCTION: The levels of urinary noradrenaline (NAd), adrenaline (Ad) and salivary cortisol (Cor) were determined in student and instructor pilots during Phase 1 (training with propeller engine; PH1), and Phase 2 (training with jet engine; PH2) flight training [20].
  • BACKGROUND: Primary hyperoxaluria-type 1 (PH-1) is a rare autosomal recessive disorder of glyoxalate metabolism caused by deficiency in the liver-specific peroxisomal enzyme alanine-glyoxalate transaminase 1 (AGT) resulting in the increased oxidation of glyoxalate to oxalate [17].
  • Pyridoxine-responsive PH1: treatment [21].

Physical interactions of PHC1

  • Two-hybrid analysis shows that homology domain II of HPH1 interacts with both homology domains I and II of HPH2 [10].

Other interactions of PHC1

  • These data demonstrate the involvement of homology domains I and II in protein-protein interactions and indicate that HPH1 and HPH2 are able to heterodimerize [10].
  • Here, we show that RING1 coimmunoprecipitates with a human Pc homolog, the vertebrate PcG protein BMI1, and HPH1, a human homolog of the PcG protein Polyhomeotic (Ph) [22].

Analytical, diagnostic and therapeutic context of PHC1


  1. Site-specific expression of polycomb-group genes encoding the HPC-HPH/PRC1 complex in clinically defined primary nodal and cutaneous large B-cell lymphomas. Raaphorst, F.M., Vermeer, M., Fieret, E., Blokzijl, T., Dukers, D., Sewalt, R.G., Otte, A.P., Willemze, R., Meijer, C.J. Am. J. Pathol. (2004) [Pubmed]
  2. Oxalate crystal deposition disease. Maldonado, I., Prasad, V., Reginato, A.J. Current rheumatology reports. (2002) [Pubmed]
  3. Urinary oxalate excretion in urolithiasis and nephrocalcinosis. Neuhaus, T.J., Belzer, T., Blau, N., Hoppe, B., Sidhu, H., Leumann, E. Arch. Dis. Child. (2000) [Pubmed]
  4. Extent of early ischemic changes on computed tomography (CT) before thrombolysis: prognostic value of the Alberta Stroke Program Early CT Score in ECASS II. Dzialowski, I., Hill, M.D., Coutts, S.B., Demchuk, A.M., Kent, D.M., Wunderlich, O., von Kummer, R. Stroke (2006) [Pubmed]
  5. A human immunoglobulin G1 antibody originating from an in vitro-selected Fab phage antibody binds avidly to tumor-associated MUC1 and is efficiently internalized. Henderikx, P., Coolen-van Neer, N., Jacobs, A., van der Linden, E., Arends, J.W., Müllberg, J., Hoogenboom, H.R. Am. J. Pathol. (2002) [Pubmed]
  6. Bone marrow transplantation for chronic granulocytic leukemia. Lehn, P., Devergie, A., Benbunan, M., Lemercier, N., Raffoux, C., Rabian, C., Vilmer, E., Azogui, O., Irti, T., Gluckman, E. J. Natl. Cancer Inst. (1986) [Pubmed]
  7. ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case. Nishiyama, K., Funai, T., Yokota, S., Ichiyama, A. J. Cell Biol. (1993) [Pubmed]
  8. Functional conservation of regulatory elements in the pdx-1 gene: PDX-1 and hepatocyte nuclear factor 3beta transcription factors mediate beta-cell-specific expression. Marshak, S., Benshushan, E., Shoshkes, M., Havin, L., Cerasi, E., Melloul, D. Mol. Cell. Biol. (2000) [Pubmed]
  9. High incidence of hyperoxaluria in generalized peroxisomal disorders. van Woerden, C.S., Groothoff, J.W., Wijburg, F.A., Duran, M., Wanders, R.J., Barth, P.G., Poll-The, B.T. Mol. Genet. Metab. (2006) [Pubmed]
  10. Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic. Gunster, M.J., Satijn, D.P., Hamer, K.M., den Blaauwen, J.L., de Bruijn, D., Alkema, M.J., van Lohuizen, M., van Driel, R., Otte, A.P. Mol. Cell. Biol. (1997) [Pubmed]
  11. Structure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene. Ohta, H., Tokimasa, S., Zou, Z., Funaki, S., Kurahashi, H., Takahashi, Y., Kimura, M., Matsuoka, R., Horie, M., Hara, J., Shimada, K., Takihara, Y. DNA Seq. (2000) [Pubmed]
  12. Adventitious shoot regeneration from in vitro cultured leaves of London plane tree (Platanus acerifolia Willd.). Liu, G., Bao, M. Plant Cell Rep. (2003) [Pubmed]
  13. Role of polycomb group proteins in stem cell self-renewal and cancer. Gil, J., Bernard, D., Peters, G. DNA Cell Biol. (2005) [Pubmed]
  14. Variability in the expression of polycomb proteins in different normal and tumoral tissues. A pilot study using tissue microarrays. Sánchez-Beato, M., Sánchez, E., González-Carreró, J., Morente, M., Díez, A., Sánchez-Verde, L., Martín, M.C., Cigudosa, J.C., Vidal, M., Piris, M.A. Mod. Pathol. (2006) [Pubmed]
  15. The incidence and prognostic significance of mutations in codon 13 of the N-ras gene in acute myeloid leukemia. Coghlan, D.W., Morley, A.A., Matthews, J.P., Bishop, J.F. Leukemia (1994) [Pubmed]
  16. Differentiation in chronic myelogenous leukemia cell K562 by spongean sesterterpene. Aoki, S., Higuchi, K., Isozumi, N., Matsui, K., Miyamoto, Y., Itoh, N., Tanaka, K., Kobayashi, M. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  17. Cellular transfection to deliver alanine-glyoxylate aminotransferase to hepatocytes: a rational gene therapy for primary hyperoxaluria-1 (PH-1). Koul, S., Johnson, T., Pramanik, S., Koul, H. American journal of nephrology. (2005) [Pubmed]
  18. Bony content of oxalate in patients with primary hyperoxaluria or oxalosis-unrelated renal failure. Marangella, M., Vitale, C., Petrarulo, M., Tricerri, A., Cerelli, E., Cadario, A., Barbos, M.P., Linari, F. Kidney Int. (1995) [Pubmed]
  19. Nipple and areola diameter in Turkish pubertal girls. Aygün, A.D., Akarsu, S., Güvenç, H., Kocabay, K. The Journal of adolescent health : official publication of the Society for Adolescent Medicine. (1998) [Pubmed]
  20. Hormonal responses of pilots to training flights: the effects of experience on apparent stress. Otsuka, Y., Onozawa, A., Miyamoto, Y. Aviation, space, and environmental medicine. (2006) [Pubmed]
  21. Pyridoxine-responsive PH1: treatment. Toussaint, C. J. Nephrol. (1998) [Pubmed]
  22. RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor. 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. Mol. Cell. Biol. (1997) [Pubmed]
  23. Biochemical and genetic diagnosis of the primary hyperoxalurias: a review. Rumsby, G. Molecular urology. (2000) [Pubmed]
  24. A novel member of murine Polycomb-group proteins, Sex comb on midleg homolog protein, is highly conserved, and interacts with RAE28/mph1 in vitro. Tomotsune, D., Takihara, Y., Berger, J., Duhl, D., Joo, S., Kyba, M., Shirai, M., Ohta, H., Matsuda, Y., Honda, B.M., Simon, J., Shimada, K., Brock, H.W., Randazzo, F. Differentiation (1999) [Pubmed]
  25. A pilot study of idiotypic vaccination for follicular B-cell lymphoma using a genetic approach. CRC NO: 92/33. Protocol NO: PH1/027. Hawkins, R.E., Russell, S.J., Marcus, R., Ashworth, L.J., Brissnik, J., Zhang, J., Winter, G., Bleehen, N.M., Shaw, M.M., Williamson, L., Ouwehand, W., Stevenson, F., Hamblin, T., Oscier, D., Zhu, D., King, C., Kumar, S., Thompsett, A., Stevenson, G.T. Hum. Gene Ther. (1997) [Pubmed]
  26. European PH1 transplant registry report on the results of combined liver/kidney transplantation for primary hyperoxaluria 1984 to 1992. European PHI Transplantation Study Group. Jamieson, N.V. Transplant. Proc. (1995) [Pubmed]
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