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Gene Review

AHCY  -  adenosylhomocysteinase

Homo sapiens

Synonyms: Adenosylhomocysteinase, AdoHcyase, S-adenosyl-L-homocysteine hydrolase, SAHH, adoHcyase
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Disease relevance of AHCY


High impact information on AHCY


Chemical compound and disease context of AHCY


Biological context of AHCY

  • Adenosylhomocysteine hydrolase-like protein 1 (AHCYL1) is a novel intracellular protein with approximately 50% protein identity to adenosylhomocysteine hydrolase (AHCY), an important enzyme for metabolizing S-adenosyl-l-homocysteine, the by-product of S-adenosyl-l-homomethionine-dependent methylation [12].
  • Quantitative reverse transcription-PCR showed that zAHCYL1A and -B mRNA expression was regulated differently from the other AHCY-like protein zAHCYL2 and zAHCY during zebrafish embryogenesis [12].
  • Our results assign the AHCY locus to the long arm of chromosome 20, in the region cen---- q131 , and ADA to the region q131 ----qter [13].
  • We have used rodent-human somatic hybrids containing translocations involving human chromosome 20 to more precisely determine the relative locations of the AHCY and ADA loci [13].
  • Using the homologous rat cDNA AHCY probe, human AHCY cDNA recombinants were isolated from a placental cDNA library [14].

Anatomical context of AHCY

  • Two variant alleles were identified in erythrocyte AHCY using starch gel electrophoresis in a sample of 166 unrelated individuals from the British population [14].
  • A mutant of this cell line which lacks Ado kinase and accumulated endogenously synthesized Ado was resistant to the effects of dAdo on both growth and AdoHcyase activity [10].
  • But information from human mouse somatic-cell hybrids led to the localization of the SAHH gene to human chromosome 20, thereby confirming the findings of Hershfield and Francke (1982) [15].
  • Endothelial cell activities were notably different from those in the human heart particularly in the case of SAHH (nine-fold higher) and PNP (16-fold higher).(ABSTRACT TRUNCATED AT 250 WORDS)[16]
  • The activity of S-adenosylhomocysteine hydrolase decreased throughout the GI tract, indicating a possible disruption of cellular transmethylation and activation of apoptotic pathways [17].

Associations of AHCY with chemical compounds


Regulatory relationships of AHCY


Other interactions of AHCY


Analytical, diagnostic and therapeutic context of AHCY


  1. S-adenosylhomocysteine hydrolase is an adenosine-binding protein: a target for adenosine toxicity. Hershfield, M.S., Krodich, N.M. Science (1978) [Pubmed]
  2. Capillary electrophoresis in diagnosis and monitoring of adenosine deaminase deficiency. Carlucci, F., Tabucchi, A., Aiuti, A., Rosi, F., Floccari, F., Pagani, R., Marinello, E. Clin. Chem. (2003) [Pubmed]
  3. Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis. Gellekink, H., den Heijer, M., Kluijtmans, L.A., Blom, H.J. Eur. J. Hum. Genet. (2004) [Pubmed]
  4. Decreased S-adenosylhomocysteine hydrolase in inborn errors of purine metabolism. Kaminska, J.E., Fox, I.H. J. Lab. Clin. Med. (1980) [Pubmed]
  5. Inactivation of S-adenosylhomocysteine hydrolase during adenine arabinoside therapy. Sacks, S.L., Merigan, T.C., Kaminska, J., Fox, I.H. J. Clin. Invest. (1982) [Pubmed]
  6. Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. Migchielsen, A.A., Breuer, M.L., van Roon, M.A., te Riele, H., Zurcher, C., Ossendorp, F., Toutain, S., Hershfield, M.S., Berns, A., Valerio, D. Nat. Genet. (1995) [Pubmed]
  7. Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. Hershfield, M.S., Buckley, R.H., Greenberg, M.L., Melton, A.L., Schiff, R., Hatem, C., Kurtzberg, J., Markert, M.L., Kobayashi, R.H., Kobayashi, A.L. N. Engl. J. Med. (1987) [Pubmed]
  8. The human genes for S-adenosylhomocysteine hydrolase and adenosine deaminase are syntenic on chromosome 20. Hershfield, M.S., Francke, U. Science (1982) [Pubmed]
  9. Pharmacological and biochemical aspects of S-adenosylhomocysteine and S-adenosylhomocysteine hydrolase. Ueland, P.M. Pharmacol. Rev. (1982) [Pubmed]
  10. Resistance of an adenosine kinase-deficient human lymphoblastoid cell line to effects of deoxyadenosine on growth, S-adenosylhomocysteine hydrolase inactivation, and dATP accumulation. Hershfield, M.S., Kredich, N.M. Proc. Natl. Acad. Sci. U.S.A. (1980) [Pubmed]
  11. S-adenosylhomocysteine hydrolase inactivation and purine toxicity in cultured human T- and B-lymphoblasts. Young, G.J., Hallam, L.J., Jack, I., Van Der Weyden, M.B. J. Lab. Clin. Med. (1984) [Pubmed]
  12. Suppression and overexpression of adenosylhomocysteine hydrolase-like protein 1 (AHCYL1) influences zebrafish embryo development: a possible role for AHCYL1 in inositol phospholipid signaling. Cooper, B.J., Key, B., Carter, A., Angel, N.Z., Hart, D.N., Kato, M. J. Biol. Chem. (2006) [Pubmed]
  13. Regional localization of the human genes for S-adenosylhomocysteine hydrolase (cen----q131) and adenosine deaminase (q131----qter) on chromosome 20. Mohandas, T., Sparkes, R.S., Suh, E.J., Hershfield, M.S. Hum. Genet. (1984) [Pubmed]
  14. Isozyme and DNA analysis of human S-adenosyl-L-homocysteine hydrolase (AHCY). Arredondo-Vega, F.X., Charlton, J.A., Edwards, Y.H., Hopkinson, D.A., Whitehouse, D.B. Ann. Hum. Genet. (1989) [Pubmed]
  15. Genetics of human S-adenosylhomocysteine hydrolase. A new polymorphism in man. Bissbort, S., Bender, K., Wienker, T.F., Grzeschik, K.H. Hum. Genet. (1983) [Pubmed]
  16. Nucleotide and adenosine metabolism in different cell types of human and rat heart. Kochan, Z., Smolenski, R.T., Yacoub, M.H., Seymour, A.L. J. Mol. Cell. Cardiol. (1994) [Pubmed]
  17. Function of murine adenosine deaminase in the gastrointestinal tract. Xu, P.A., Kellems, R.E. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  18. S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Baric, I., Fumic, K., Glenn, B., Cuk, M., Schulze, A., Finkelstein, J.D., James, S.J., Mejaski-Bosnjak, V., Pazanin, L., Pogribny, I.P., Rados, M., Sarnavka, V., Scukanec-Spoljar, M., Allen, R.H., Stabler, S., Uzelac, L., Vugrek, O., Wagner, C., Zeisel, S., Mudd, S.H. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  19. Catalytic strategy of S-adenosyl-L-homocysteine hydrolase: transition-state stabilization and the avoidance of abortive reactions. Yang, X., Hu, Y., Yin, D.H., Turner, M.A., Wang, M., Borchardt, R.T., Howell, P.L., Kuczera, K., Schowen, R.L. Biochemistry (2003) [Pubmed]
  20. Proposed explanation for S-adenosylhomocysteine hydrolase deficiency in purine nucleoside phosphorylase and hypoxanthine-guanine phosphoribosyltransferase-deficient patients. Hershfield, M.S. J. Clin. Invest. (1981) [Pubmed]
  21. S-adenosylmethionine increases erythrocyte ATP in vitro by a route independent of adenosine kinase. Montero, C., Smolenski, R.T., Duley, J.A., Simmonds, H.A. Biochem. Pharmacol. (1990) [Pubmed]
  22. Linkage relations of JK, CO, KEL and IGK with each other and with AHCY. Bender, K., Bissbort, S., Crone, H., Senff, H., Steiert, A., Neumann, H., Koch, M., Nagel, M., Wienker, T.F. Hum. Hered. (1988) [Pubmed]
  23. Differential distribution of purine metabolizing enzymes between glia and neurons. Ceballos, G., Tuttle, J.B., Rubio, R. J. Neurochem. (1994) [Pubmed]
  24. 5'-deoxy-5'-methylthioadenosine phosphorylase--IV. Biological activity of 2-fluoroadenine-substituted 5'-deoxy-5'-methylthioadenosine analogs. Savarese, T.M., Cannistra, A.J., Parks, R.E., Secrist, J.A., Shortnacy, A.T., Montgomery, J.A. Biochem. Pharmacol. (1987) [Pubmed]
  25. S-adenosylhomocysteine hydrolase and adenosine deaminase activities in human red cell ageing. Bozzi, A., Furciniti-La Chiusa, B., Strom, R., Crifò, C. Clin. Chim. Acta (1990) [Pubmed]
  26. Chemical modification and site-directed mutagenesis of cysteine residues in human placental S-adenosylhomocysteine hydrolase. Yuan, C.S., Ault-Riché, D.B., Borchardt, R.T. J. Biol. Chem. (1996) [Pubmed]
  27. S-adenosyl-L-homocysteine hydrolase as a target for antiviral chemotherapy. Wolfe, M.S., Borchardt, R.T. J. Med. Chem. (1991) [Pubmed]
  28. S-Adenosylhomocysteine hydrolase from human placenta. Affinity purification and characterization. Hershfield, M.S., Aiyar, V.N., Premakumar, R., Small, W.C. Biochem. J. (1985) [Pubmed]
  29. S-Adenosyl methionine/S-adenosyl-L-homocysteine ratio determination by capillary electrophoresis employed as a monitoring tool for the antiviral effectiveness of adenosine analogs. Sbrana, E., Bramanti, E., Spinetti, M.C., Raspi, G. Electrophoresis (2004) [Pubmed]
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