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Gene Review

SPR  -  sepiapterin reductase (7,8...

Homo sapiens

Synonyms: SDR38C1, Sepiapterin reductase
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Disease relevance of SPR

  • Thus, autosomal recessive SR deficiency leads to BH(4) and to neurotransmitter deficiencies without hyperphenylalaninemia and may not be detected by neonatal screening for phenylketonuria [1].
  • These data demonstrate that SPR mRNA expression is significantly reduced in patients with HIV infection [2].
  • This confirms a previous study showing that SPR potentially modulates the onset of or risk for Parkinson's disease [3].
  • SR mRNA expression is absent in the human NK-like cell line YT and in the murine erythroleukemia subclone B8/3, which both lack SR activity [4].
  • To identify the G proteins involved in the function of human substance P receptor (hSPR), the receptor was expressed in Sf9 cells using the baculovirus expression system [5].

Psychiatry related information on SPR


High impact information on SPR


Chemical compound and disease context of SPR


Biological context of SPR


Anatomical context of SPR


Associations of SPR with chemical compounds


Enzymatic interactions of SPR


Other interactions of SPR

  • Whereas TH protein showed a restricted localization, being mainly detected in the SN and CN, SPR protein was detected in all brain regions examined [19].
  • The results indicate that there might be a BH4 biosynthetic pathway where GCH is not involved and that SPR might have some yet unidentified function(s) in addition to BH4 biosynthesis [19].
  • The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations [3].
  • In order to investigate their putative function and biosynthetic regulation, we performed quantitative analysis of not only the intracellular pteridines by HPLC but also the biosynthetic enzymes (GTP cyclohydrolase I, 6-pyruvoyltetrahydropterin synthase, SR, and aldose reductase-like enzyme) by Northern blot analysis and activity assay [25].
  • We found that both SR transcript and activity increased in parallel with a remarkable decline in aldose reductase-like enzyme activity when BH4 increased transiently in the early development [25].

Analytical, diagnostic and therapeutic context of SPR

  • The purpose of this study was to characterize intestinal mucosal SPR mRNA expression in control, HIV and IBD patients using semiquantitative reverse transcription PCR [2].
  • In contrast, uniform increases in mucosal SP receptor (SPR) have been described in patients with IBD using quantitative autoradiography [2].
  • This was achieved by photoaffinity labeling of G(alpha)-subunits with [32P]azidoanilido-GTP ([32P]AA-GTP) upon hSPR stimulation in CHO-hSPR membranes followed by immunoprecipitation of the labeled G(alpha)-subunits with antibodies specific for various G(alpha)-subunits [22].
  • The physical properties of the mutants were carefully examined by gel-filtration chromatography, CD, and NMR spectroscopy, and the biological activities were assessed by an in vitro SPR bioassay and three in vivo bioassays: binding to cells, blocking virus infection and blocking cell fusion [26].
  • SPR biosensor studies of the direct interaction between 27 drugs and a liposome surface: correlation with fraction absorbed in humans [27].


  1. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Bonafé, L., Thöny, B., Penzien, J.M., Czarnecki, B., Blau, N. Am. J. Hum. Genet. (2001) [Pubmed]
  2. Mucosal substance P receptor expression in HIV infection and inflammatory bowel disease. McGowan, I.M., Fairhurst, R.M., Shanahan, F., Anton, P.A. Neuroimmunomodulation (1997) [Pubmed]
  3. The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. Sharma, M., Mueller, J.C., Zimprich, A., Lichtner, P., Hofer, A., Leitner, P., Maass, S., Berg, D., Dürr, A., Bonifati, V., De Michele, G., Oostra, B., Brice, A., Wood, N.W., Muller-Myhsok, B., Gasser, T. J. Med. Genet. (2006) [Pubmed]
  4. Detection of a novel sepiapterin reductase mRNA: assay of mRNA in various cells and tissues of various species. Maier, J., Schott, K., Werner, T., Bacher, A., Ziegler, I. Exp. Cell Res. (1993) [Pubmed]
  5. Human substance P receptor expressed in Sf9 cells couples with multiple endogenous G proteins. Nishimura, K., Frederick, J., Kwatra, M.M. J. Recept. Signal Transduct. Res. (1998) [Pubmed]
  6. 2000 SPR Award for distinguished contributions to psychophysiology. Davidson, R.J. Psychophysiology. (2002) [Pubmed]
  7. Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. Friedman, J., Hyland, K., Blau, N., MacCollin, M. Neurology (2006) [Pubmed]
  8. Polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder. McHugh, P.C., Joyce, P.R., Kennedy, M.R. Pharmacogenet. Genomics (2009) [Pubmed]
  9. Ca2+-dependent regulation of synaptic SNARE complex assembly via a calmodulin- and phospholipid-binding domain of synaptobrevin. Quetglas, S., Leveque, C., Miquelis, R., Sato, K., Seagar, M. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  10. Pteridine biosynthesis in human endothelial cells. Impact on nitric oxide-mediated formation of cyclic GMP. Werner-Felmayer, G., Werner, E.R., Fuchs, D., Hausen, A., Reibnegger, G., Schmidt, K., Weiss, G., Wachter, H. J. Biol. Chem. (1993) [Pubmed]
  11. Combinations of SPR and MS for Characterization of Native and Recombinant Proteins in Cell Lysates. Borch, J., Roepstorff, P. Mol. Biotechnol. (2006) [Pubmed]
  12. Tetrahydrobiopterin biosynthetic activities in human macrophages, fibroblasts, THP-1, and T 24 cells. GTP-cyclohydrolase I is stimulated by interferon-gamma, and 6-pyruvoyl tetrahydropterin synthase and sepiapterin reductase are constitutively present. Werner, E.R., Werner-Felmayer, G., Fuchs, D., Hausen, A., Reibnegger, G., Yim, J.J., Pfleiderer, W., Wachter, H. J. Biol. Chem. (1990) [Pubmed]
  13. Sepiapterin reductase producing L-threo-dihydrobiopterin from Chlorobium tepidum. Cho, S.H., Na, J.U., Youn, H., Hwang, C.S., Lee, C.H., Kang, S.O. Biochem. J. (1999) [Pubmed]
  14. Cyclic guanosine-3',5'-monophosphate and biopteridine biosynthesis in Nocardia sp. Son, J.K., Rosazza, J.P. J. Bacteriol. (2000) [Pubmed]
  15. Production of sepiapterin in Escherichia coli by coexpression of cyanobacterial GTP cyclohydrolase I and human 6-pyruvoyltetrahydropterin synthase. Woo, H.J., Kang, J.Y., Choi, Y.K., Park, Y.S. Appl. Environ. Microbiol. (2002) [Pubmed]
  16. Cloning and sequencing of cDNA encoding human sepiapterin reductase--an enzyme involved in tetrahydrobiopterin biosynthesis. Ichinose, H., Katoh, S., Sueoka, T., Titani, K., Fujita, K., Nagatsu, T. Biochem. Biophys. Res. Commun. (1991) [Pubmed]
  17. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Thöny, B., Blau, N. Hum. Mutat. (2006) [Pubmed]
  18. Genomic organization and chromosomal localization of the human sepiapterin reductase gene. Ohye, T., Hori, T.A., Katoh, S., Nagatsu, T., Ichinose, H. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
  19. Localization of sepiapterin reductase in the human brain. Ikemoto, K., Suzuki, T., Ichinose, H., Ohye, T., Nishimura, A., Nishi, K., Nagatsu, I., Nagatsu, T. Brain Res. (2002) [Pubmed]
  20. Characterization of GRK2-catalyzed phosphorylation of the human substance P receptor in Sf9 membranes. Nishimura, K., Warabi, K., Roush, E.D., Frederick, J., Schwinn, D.A., Kwatra, M.M. Biochemistry (1998) [Pubmed]
  21. Human substance P receptor lacking the C-terminal domain remains competent to desensitize and internalize. Richardson, M.D., Balius, A.M., Yamaguchi, K., Freilich, E.R., Barak, L.S., Kwatra, M.M. J. Neurochem. (2003) [Pubmed]
  22. Human substance P receptor expressed in Chinese hamster ovary cells directly activates G(alpha q/11), G(alpha s), G(alpha o). Roush, E.D., Kwatra, M.M. FEBS Lett. (1998) [Pubmed]
  23. 17beta-estradiol stimulates substance P receptor gene expression. Villablanca, A.C., Hanley, M.R. Mol. Cell. Endocrinol. (1997) [Pubmed]
  24. Biosynthesis of tetrahydrobiopterin in man. Curtius, H.C., Heintel, D., Ghisla, S., Kuster, T., Leimbacher, W., Niederwieser, A. J. Inherit. Metab. Dis. (1985) [Pubmed]
  25. Functional role of sepiapterin reductase in the biosynthesis of tetrahydropteridines in Dictyostelium discoideum Ax2. Choi, Y.K., Kong, J.S., Park, Y.S. Biochim. Biophys. Acta (2006) [Pubmed]
  26. The oligomeric structure of vaccinia viral envelope protein A27L is essential for binding to heparin and heparan sulfates on cell surfaces: a structural and functional approach using site-specific mutagenesis. Ho, Y., Hsiao, J.C., Yang, M.H., Chung, C.S., Peng, Y.C., Lin, T.H., Chang, W., Tzou, D.L. J. Mol. Biol. (2005) [Pubmed]
  27. SPR biosensor studies of the direct interaction between 27 drugs and a liposome surface: correlation with fraction absorbed in humans. Danelian, E., Karlén, A., Karlsson, R., Winiwarter, S., Hansson, A., Löfâs, S., Lennernäs, H., Hämäläinen, M.D. J. Med. Chem. (2000) [Pubmed]
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