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Gene Review

IMPDH1  -  IMP (inosine 5'-monophosphate)...

Homo sapiens

Synonyms: IMP dehydrogenase 1, IMPD, IMPD 1, IMPD1, IMPDH 1, ...
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Disease relevance of IMPDH1

  • Studies are needed to further characterize the functional significance of IMPDH1 nucleic acid binding and its potential relationship to retinal degeneration [1].
  • PURPOSE: To determine the presence and frequency of mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa (ADRP), and to characterize the clinical characteristics of patients with the Lys238Arg mutation in the IMPDH1 gene [2].
  • CONCLUSION: In this family with a mutation in IMPDH1, we found a specific phenotype with rod function affected more than cone function, foveal edema, and central retinal function preserved for a long period of time [3].
  • PURPOSE: The purpose of this study was to investigate retinal inosine monophosphate dehydrogenase 1 (IMPDH1) transcripts and proteins to gain an understanding of how mutations in IMPDH1 lead to retinal disease [4].
  • Increased IMP dehydrogenase gene expression was observed in brain tumors relative to normal brain tissue and in sarcoma cells relative to normal fibroblasts [5].

High impact information on IMPDH1


Chemical compound and disease context of IMPDH1


Biological context of IMPDH1


Anatomical context of IMPDH1


Associations of IMPDH1 with chemical compounds

  • IMPDH1 is a ubiquitously expressed enzyme, functioning as a homotetramer, which catalyzed the rate-limiting step in de novo synthesis of guanine nucleotides [17].
  • Production of fluorescent reduced nicotinamide adenine dinucleotide (NADH) was used to measure enzymatic activity of mutant IMPDH1 proteins [1].
  • The aspartic acid at codon 226 is conserved in all IMPDH genes, in all species examined, including bacteria, suggesting that this mutation is highly deleterious [17].
  • DNA sequencing of affected individuals from the two American RP10 families revealed a GAC-->AAC transition in codon 226 substituting an asparagine for an aspartic acid in both families [17].
  • As lymphocytes depend more than other cell types on de novo synthesis of purines, IMPDH inhibitors such as mycophenolic acid (MPA) can selectively expand lymphocytes overexpressing the enzymes [20].

Physical interactions of IMPDH1

  • A yeast-based two-hybrid system was employed which identified inosine-5' monophosphate dehydrogenase (IMPDH) type II as specifically interacting with PKB/Akts PH domain [21].

Regulatory relationships of IMPDH1


Other interactions of IMPDH1


Analytical, diagnostic and therapeutic context of IMPDH1


  1. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Bowne, S.J., Sullivan, L.S., Mortimer, S.E., Hedstrom, L., Zhu, J., Spellicy, C.J., Gire, A.I., Hughbanks-Wheaton, D., Birch, D.G., Lewis, R.A., Heckenlively, J.R., Daiger, S.P. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  2. Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa. Wada, Y., Tada, A., Itabashi, T., Kawamura, M., Sato, H., Tamai, M. Am. J. Ophthalmol. (2005) [Pubmed]
  3. Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene. Schatz, P., Ponjavic, V., Andréasson, S., McGee, T.L., Dryja, T.P., Abrahamson, M. Ophthalmic Genet. (2005) [Pubmed]
  4. Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? Bowne, S.J., Liu, Q., Sullivan, L.S., Zhu, J., Spellicy, C.J., Rickman, C.B., Pierce, E.A., Daiger, S.P. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  5. Increased inosine-5'-phosphate dehydrogenase gene expression in solid tumor tissues and tumor cell lines. Collart, F.R., Chubb, C.B., Mirkin, B.L., Huberman, E. Cancer Res. (1992) [Pubmed]
  6. Structure and mechanism of inosine monophosphate dehydrogenase in complex with the immunosuppressant mycophenolic acid. Sintchak, M.D., Fleming, M.A., Futer, O., Raybuck, S.A., Chambers, S.P., Caron, P.R., Murcko, M.A., Wilson, K.P. Cell (1996) [Pubmed]
  7. Bateman domains and adenosine derivatives form a binding contract. Kemp, B.E. J. Clin. Invest. (2004) [Pubmed]
  8. Sensitization of human erythroleukemia K562 cells resistant to methotrexate by inhibiting IMPDH. Peñuelas, S., Noé, V., Morales, R., Ciudad, C.J. Med. Sci. Monit. (2005) [Pubmed]
  9. In vitro combination studies of tenofovir and other nucleoside analogues with ribavirin against HIV-1. Margot, N.A., Miller, M.D. Antivir. Ther. (Lond.) (2005) [Pubmed]
  10. A randomized, double-blind, placebo-controlled dose-escalation trial of merimepodib (VX-497) and interferon-alpha in previously untreated patients with chronic hepatitis C. McHutchison, J.G., Shiffman, M.L., Cheung, R.C., Gordon, S.C., Wright, T.L., Pottage, J.C., McNair, L., Ette, E., Moseley, S., Alam, J. Antivir. Ther. (Lond.) (2005) [Pubmed]
  11. Differentiation of androgen-independent prostate cancer PC-3 cells is associated with increased nuclear factor-kappaB activity. Floryk, D., Huberman, E. Cancer Res. (2005) [Pubmed]
  12. Purine metabolism of human glioblastoma in vivo. Pillwein, K., Chiba, P., Knoflach, A., Czermak, B., Schuchter, K., Gersdorf, E., Ausserer, B., Murr, C., Goebl, R., Stockhammer, G. Cancer Res. (1990) [Pubmed]
  13. On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa. Aherne, A., Kennan, A., Kenna, P.F., McNally, N., Lloyd, D.G., Alberts, I.L., Kiang, A.S., Humphries, M.M., Ayuso, C., Engel, P.C., Gu, J.J., Mitchell, B.S., Farrar, G.J., Humphries, P. Hum. Mol. Genet. (2004) [Pubmed]
  14. Assignment of the human type I IMP dehydrogenase gene (IMPDH1) to chromosome 7q31.3-q32). Gu, J.J., Kaiser-Rogers, K., Rao, K., Mitchell, B.S. Genomics (1994) [Pubmed]
  15. Identification and regional localization of a human IMP dehydrogenase-like locus (IMPDHL1) at 16p13.13. Doggett, N.A., Callen, D.F., Chen, Z.L., Moore, S., Tesmer, J.G., Duesing, L.A., Stallings, R.L. Genomics (1993) [Pubmed]
  16. Chromosomal localization and structure of the human type II IMP dehydrogenase gene (IMPDH2). Glesne, D., Collart, F., Varkony, T., Drabkin, H., Huberman, E. Genomics (1993) [Pubmed]
  17. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Bowne, S.J., Sullivan, L.S., Blanton, S.H., Cepko, C.L., Blackshaw, S., Birch, D.G., Hughbanks-Wheaton, D., Heckenlively, J.R., Daiger, S.P. Hum. Mol. Genet. (2002) [Pubmed]
  18. Characterization of the human inosine-5'-monophosphate dehydrogenase type II gene. Zimmermann, A.G., Spychala, J., Mitchell, B.S. J. Biol. Chem. (1995) [Pubmed]
  19. Inosine-5'-monophosphate dehydrogenase is required for mitogenic competence of transformed pancreatic beta cells. Metz, S., Holland, S., Johnson, L., Espling, E., Rabaglia, M., Segu, V., Brockenbrough, J.S., Tran, P.O. Endocrinology (2001) [Pubmed]
  20. Ex vivo selection and expansion of cells based on expression of a mutated inosine monophosphate dehydrogenase 2 after HIV vector transduction: effects on lymphocytes, monocytes, and CD34+ stem cells. Yam, P., Jensen, M., Akkina, R., Anderson, J., Villacres, M.C., Wu, J., Zaia, J.A., Yee, J.K. Mol. Ther. (2006) [Pubmed]
  21. PKB/Akt interacts with inosine-5' monophosphate dehydrogenase through its pleckstrin homology domain. Ingley, E., Hemmings, B.A. FEBS Lett. (2000) [Pubmed]
  22. Benzamide riboside, a recent inhibitor of inosine 5'-monophosphate dehydrogenase induces transferrin receptors in cancer cells. Szekeres, T., Sedlak, J., Novotny, L. Current medicinal chemistry. (2002) [Pubmed]
  23. Role of differentiation induction in action of purine antimetabolites. Weber, G., Hata, Y., Prajda, N. Pharmacy world & science : PWS. (1994) [Pubmed]
  24. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. Wada, Y., Sandberg, M.A., McGee, T.L., Stillberger, M.A., Berson, E.L., Dryja, T.P. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  25. Depletion of intracellular GTP results in nuclear factor-kappaB activation and intercellular adhesion molecule-1 expression in human endothelial cells. Weigel, G., Bertalanffy, P., Wolner, E. Mol. Pharmacol. (2002) [Pubmed]
  26. IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA. Mortimer, S.E., Xu, D., McGrew, D., Hamaguchi, N., Lim, H.C., Bowne, S.J., Daiger, S.P., Hedstrom, L. J. Biol. Chem. (2008) [Pubmed]
  27. Two distinct cDNAs for human IMP dehydrogenase. Natsumeda, Y., Ohno, S., Kawasaki, H., Konno, Y., Weber, G., Suzuki, K. J. Biol. Chem. (1990) [Pubmed]
  28. Cloning and sequence analysis of the human and Chinese hamster inosine-5'-monophosphate dehydrogenase cDNAs. Collart, F.R., Huberman, E. J. Biol. Chem. (1988) [Pubmed]
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