The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

ALDH1A1  -  aldehyde dehydrogenase 1 family, member A1

Homo sapiens

Synonyms: ALDC, ALDH-E1, ALDH1, ALDH11, ALHDII, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of ALDH1A1


Psychiatry related information on ALDH1A1

  • The alcoholics had significantly lower frequencies of the ADH2*2, ADH3*1, and ALDH2*2 alleles than did the nonalcoholics, suggesting that genetic variation in both ADH and ALDH, by modulating the rate of metabolism of ethanol and acetaldehyde, influences drinking behavior and the risk of developing alcoholism [6].
  • The effects of sex, aging, smoking, drinking alcohol, liver function, and various drugs on ALDH activity were also analyzed [7].
  • To understand the relationship among alcoholism, antisocial personality disorder, and the protective effects of ADH and ALDH, it is necessary to recruit individuals with antisocial personality disorder but without alcoholism [8].
  • These findings clearly distinguish the action(s) of daidzin and daidzein from those of the classic, broad acting inhibitors of ALDH (e.g. disulfiram) and class I ADH isozymes (e.g. 4-methylpyrazole), and identify them as a new class of compounds that offer promise as safe and effective therapeutic agents for alcohol abuse [9].
  • Erythrocyte ALDH activity can be readily monitored to determine patient compliance and is an accessible model for investigations of in vivo mechanisms of drug inhibition [10].

High impact information on ALDH1A1

  • The severe visual impairment of individuals with mutations in RDH12 is in marked contrast to the mild visual deficiency in individuals with fundus albipunctatus caused by mutations in RDH5, encoding another retinal dehydrogenase [11].
  • BACKGROUND & AIMS: Alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH) are the major enzymes responsible for ethanol metabolism in humans [12].
  • Differential expression patterns of ADH and ALDH in the alimentary tract suggest that different vulnerabilities to ethanol-induced mucosal injury may exist [12].
  • The gastric ADH and ALDH activities were not significantly different between men and women with respect to age and genetic polymorphism [12].
  • Despite the well-established link between the ALDH2*2 allele and the physiological discomforts after drinking, very little is known regarding the psychological expectancies of drinking among persons with alcoholism with different ALDH genotypes [13].

Chemical compound and disease context of ALDH1A1


Biological context of ALDH1A1

  • Similarly, inhibition of ALDH1A1 in HLECs by ALDH1A1-specific antisense RNA or SiRNA was associated with decreased oxidation of 3H-HNE and increased susceptibility of the cells to oxidative damage, including apoptosis [1].
  • A blood sample was obtained from each participant, and leukocyte DNA was extracted and used to genotype for the presence of the ALDH1A1 promoter polymorphisms [17].
  • CONCLUSIONS: ALDH1A1*2 and ALDH1A1*3 may influence ALDH1A1 gene expression [18].
  • RESULTS: Two polymorphisms, a 17 base pair (bp) deletion (-416/-432) and a 3 bp insertion (-524), were discovered in the ALDH1A1 promoter region: ALDH1A1*2 and ALDH1A1*3, respectively [18].
  • These data suggest that ALDH1A1 may contribute to corneal cellular defense against oxidative damage by metabolizing toxic aldehydes produced during UV-induced lipid peroxidation [3].

Anatomical context of ALDH1A1

  • RESULTS: Primary breast tumor ALDH1A1 and ALDH3A1 levels were highly predictive of their respective levels in paired metastatic breast tumors present in axillary lymph nodes (r2 = 0.80 and 0.85, respectively) [19].
  • We have developed transgenic cell lines to examine the potential for either human ALDH1A1 or ALDH3A1 to protect against damage mediated by these toxic aldehydes [20].
  • Most mammalian species express high concentrations of ALDH3A1 in corneal epithelium with the exception of the rabbit, which expresses high amounts of ALDH1A1 rather than ALDH3A1 [3].
  • A key finding was the detection of a metabolite, most likely carboxyphosphamide, that is formed only by cytosols from cells expressing either class 3 or class 1 ALDH [21].
  • ALDH enzyme activity was also quantitated and immunolabeling was performed to determine the expression of ALDH3A1 in human corneal tissue sections from normal and diseased corneas [22].

Associations of ALDH1A1 with chemical compounds


Physical interactions of ALDH1A1


Regulatory relationships of ALDH1A1


Other interactions of ALDH1A1

  • Resistance was correlated with hALDH-3 activity, and was reversed by pretreatment with the ALDH inhibitor diethylaminobenzaldehyde [21].
  • As previously reported in ALDH1 and ALDH2, a higher catalytic efficiency (Vmax/Km) for oxidation of long-chain aliphatic aldehydes was found in ALDH3, suggesting that these enzymes have a hydrophobic barrel-shape substrate binding pocket [26].
  • RT-PCR, western blotting and immunolabeling were used to detect mRNA and protein expression of ALDH isozymes and TKT [22].
  • The neighbor-joining tree derived from 12 human ALDHs and antiquitin indicates that diversification within the ALDH1/2/5/6 gene cluster occurred during the Neoproterozoic period (about 800 million years ago) [27].
  • OBJECTIVE: To ascertain why alcohol is prone to manifest unpleasant effects in diabetes associated with mitochondrial tRNA(Leu(UUR) mutation at position 3243 (DM-Mt3243), we investigated the genotype of aldehyde dehydrogenase (ALDH) 2 and alcohol dehydrogenase 2 (ADH2) in DM-Mt3243 [28].

Analytical, diagnostic and therapeutic context of ALDH1A1


  1. Role of aldehyde dehydrogenase isozymes in the defense of rat lens and human lens epithelial cells against oxidative stress. Choudhary, S., Xiao, T., Vergara, L.A., Srivastava, S., Nees, D., Piatigorsky, J., Ansari, N.H. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  2. Cellular levels of aldehyde dehydrogenases (ALDH1A1 and ALDH3A1) as predictors of therapeutic responses to cyclophosphamide-based chemotherapy of breast cancer: a retrospective study. Rational individualization of oxazaphosphorine-based cancer chemotherapeutic regimens. Sládek, N.E., Kollander, R., Sreerama, L., Kiang, D.T. Cancer Chemother. Pharmacol. (2002) [Pubmed]
  3. Molecular cloning and baculovirus expression of the rabbit corneal aldehyde dehydrogenase (ALDH1A1) cDNA. Manzer, R., Qamar, L., Estey, T., Pappa, A., Petersen, D.R., Vasiliou, V. DNA Cell Biol. (2003) [Pubmed]
  4. Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. Hsu, L.C., Tani, K., Fujiyoshi, T., Kurachi, K., Yoshida, A. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  5. ALDH1 mRNA: presence in human dopamine neurons and decreases in substantia nigra in Parkinson's disease and in the ventral tegmental area in schizophrenia. Galter, D., Buervenich, S., Carmine, A., Anvret, M., Olson, L. Neurobiol. Dis. (2003) [Pubmed]
  6. Alcohol and aldehyde dehydrogenase genotypes and alcoholism in Chinese men. Thomasson, H.R., Edenberg, H.J., Crabb, D.W., Mai, X.L., Jerome, R.E., Li, T.K., Wang, S.P., Lin, Y.T., Lu, R.B., Yin, S.J. Am. J. Hum. Genet. (1991) [Pubmed]
  7. Effects of aldehyde dehydrogenase-2 genetic polymorphisms on metabolism of structurally different aldehydes in human liver. Wang, R.S., Nakajima, T., Kawamoto, T., Honma, T. Drug Metab. Dispos. (2002) [Pubmed]
  8. No alcoholism-protection effects of ADH1B*2 allele in antisocial alcoholics among Han Chinese in Taiwan. Lu, R.B., Ko, H.C., Lee, J.F., Lin, W.W., Huang, S.Y., Wang, T.J., Wu, Y.S., Lu, T.E., Chou, Y.H. Alcohol. Clin. Exp. Res. (2005) [Pubmed]
  9. Therapeutic lessons from traditional Oriental medicine to contemporary Occidental pharmacology. Keung, W.M., Vallee, B.L. EXS. (1994) [Pubmed]
  10. Disulfiram and erythrocyte aldehyde dehydrogenase inhibition. Towell, J.F., Cho, J.K., Roh, B.L., Wang, R.I. Clin. Pharmacol. Ther. (1983) [Pubmed]
  11. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Janecke, A.R., Thompson, D.A., Utermann, G., Becker, C., Hübner, C.A., Schmid, E., McHenry, C.L., Nair, A.R., Rüschendorf, F., Heckenlively, J., Wissinger, B., Nürnberg, P., Gal, A. Nat. Genet. (2004) [Pubmed]
  12. Human stomach alcohol and aldehyde dehydrogenases: comparison of expression pattern and activities in alimentary tract. Yin, S.J., Liao, C.S., Wu, C.W., Li, T.T., Chen, L.L., Lai, C.L., Tsao, T.Y. Gastroenterology (1997) [Pubmed]
  13. Acetaldehyde involvement in positive and negative alcohol expectancies in han Chinese persons with alcoholism. Hahn, C.Y., Huang, S.Y., Ko, H.C., Hsieh, C.H., Lee, I.H., Yeh, T.L., Yang, Y.K., Lee, J.F., Lin, W.W., Lu, R.B. Arch. Gen. Psychiatry (2006) [Pubmed]
  14. Genetic polymorphism and activities of human colon alcohol and aldehyde dehydrogenases: no gender and age differences. Yin, S.J., Liao, C.S., Lee, Y.C., Wu, C.W., Jao, S.W. Alcohol. Clin. Exp. Res. (1994) [Pubmed]
  15. Identification of glutathione S-transferase as a determinant of 4-hydroperoxycyclophosphamide resistance in human breast cancer cells. Chen, G., Waxman, D.J. Biochem. Pharmacol. (1995) [Pubmed]
  16. Purification, crystallization and preliminary X-ray diffraction studies of retinal dehydrogenase type II. Lamb, A.L., Wang, X., Napoli, J.L., Newcomer, M.E. Acta Crystallogr. D Biol. Crystallogr. (1998) [Pubmed]
  17. Association of ALDH1 promoter polymorphisms with alcohol-related phenotypes in southwest California Indians. Ehlers, C.L., Spence, J.P., Wall, T.L., Gilder, D.A., Carr, L.G. Alcohol. Clin. Exp. Res. (2004) [Pubmed]
  18. Evaluation of aldehyde dehydrogenase 1 promoter polymorphisms identified in human populations. Spence, J.P., Liang, T., Eriksson, C.J., Taylor, R.E., Wall, T.L., Ehlers, C.L., Carr, L.G. Alcohol. Clin. Exp. Res. (2003) [Pubmed]
  19. Primary breast tumor levels of suspected molecular determinants of cellular sensitivity to cyclophosphamide, ifosfamide, and certain other anticancer agents as predictors of paired metastatic tumor levels of these determinants. Rational individualization of cancer chemotherapeutic regimens. Sreerama, L., Sládek, N.E. Cancer Chemother. Pharmacol. (2001) [Pubmed]
  20. Selective protection by stably transfected human ALDH3A1 (but not human ALDH1A1) against toxicity of aliphatic aldehydes in V79 cells. Townsend, A.J., Leone-Kabler, S., Haynes, R.L., Wu, Y., Szweda, L., Bunting, K.D. Chem. Biol. Interact. (2001) [Pubmed]
  21. Protection by transfected rat or human class 3 aldehyde dehydrogenase against the cytotoxic effects of oxazaphosphorine alkylating agents in hamster V79 cell lines. Demonstration of aldophosphamide metabolism by the human cytosolic class 3 isozyme. Bunting, K.D., Townsend, A.J. J. Biol. Chem. (1996) [Pubmed]
  22. Aldehyde dehydrogenase (ALDH) 3A1 expression by the human keratocyte and its repair phenotypes. Pei, Y., Reins, R.Y., McDermott, A.M. Exp. Eye Res. (2006) [Pubmed]
  23. Aldehyde dehydrogenase-mediated cellular relative insensitivity to the oxazaphosphorines. Sládek, N.E. Curr. Pharm. Des. (1999) [Pubmed]
  24. Purification, N-terminal sequence determination and enzymatic characterization of antiquitin from the liver of grass carp. Chan, W.M., Tang, W.K., Cheng, C.H., Fong, W.P. Comp. Biochem. Physiol. B, Biochem. Mol. Biol. (2003) [Pubmed]
  25. The T-cell oncogenic protein HOX11 activates Aldh1 expression in NIH 3T3 cells but represses its expression in mouse spleen development. Greene, W.K., Bahn, S., Masson, N., Rabbitts, T.H. Mol. Cell. Biol. (1998) [Pubmed]
  26. Kinetic evidence for human liver and stomach aldehyde dehydrogenase-3 representing an unique class of isozymes. Yin, S.J., Liao, C.S., Wang, S.L., Chen, Y.J., Wu, C.W. Biochem. Genet. (1989) [Pubmed]
  27. Human aldehyde dehydrogenase gene family. Yoshida, A., Rzhetsky, A., Hsu, L.C., Chang, C. Eur. J. Biochem. (1998) [Pubmed]
  28. Mitochondrial aldehyde dehydrogenase in diabetes associated with mitochondrial tRNA(Leu(UUR)) mutation at position 3243. Suzuki, Y., Muramatsu, T., Taniyama, M., Atsumi, Y., Suematsu, M., Kawaguchi, R., Higuchi, S., Asahina, T., Murata, C., Handa, M., Matsuoka, K. Diabetes Care (1996) [Pubmed]
  29. Polymorphism of a class 3 aldehyde dehydrogenase present in human saliva and in hair roots. Dyck, L.E. Alcohol. Clin. Exp. Res. (1995) [Pubmed]
  30. Scallop lens Omega-crystallin (ALDH1A9): A novel tetrameric aldehyde dehydrogenase. Horwitz, J., Ding, L., Vasiliou, V., Cantore, M., Piatigorsky, J. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  31. Chromosomal assignment of the genes for human aldehyde dehydrogenase-1 and aldehyde dehydrogenase-2. Hsu, L.C., Yoshida, A., Mohandas, T. Am. J. Hum. Genet. (1986) [Pubmed]
WikiGenes - Universities