Biology:IMPDH1
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.[1][2]
Function
IMP dehydrogenase 1 acts as a homotetramer to regulate cell growth. IMPDH1 is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides.[1]
Clinical significance
Defects in the IMPDH1 gene are a cause of retinitis pigmentosa type 10 (RP10).[1][3][4]
See also
References
- ↑ 1.0 1.1 1.2 "Entrez Gene: IMP (inosine monophosphate) dehydrogenase 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3614.
- ↑ "Two distinct cDNAs for human IMP dehydrogenase". J. Biol. Chem. 265 (9): 5292–5. March 1990. doi:10.1016/S0021-9258(19)34120-1. PMID 1969416.
- ↑ "Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice". Hum. Mol. Genet. 11 (5): 547–57. March 2002. doi:10.1093/hmg/11.5.547. PMID 11875049.
- ↑ "Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa". Hum. Mol. Genet. 11 (5): 559–68. March 2002. doi:10.1093/hmg/11.5.559. PMID 11875050.
Further reading
- "IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA.". J. Biol. Chem. 283 (52): 36354–60. 2008. doi:10.1074/jbc.M806143200. PMID 18974094.
- "Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients". The Journal of Heart and Lung Transplantation 29 (5): 509–516. 2010. doi:10.1016/j.healun.2009.11.602. PMID 20061166.
- "A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa". Ophthalmology 111 (10): 1910–6. 2004. doi:10.1016/j.ophtha.2004.03.039. PMID 15465556.
- "Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?". Invest. Ophthalmol. Vis. Sci. 47 (9): 3754–65. 2006. doi:10.1167/iovs.06-0207. PMID 16936083.
- "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene". Ophthalmic Genet. 26 (3): 119–24. 2005. doi:10.1080/13816810500229090. PMID 16272056.
- "Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa". Am. J. Ophthalmol. 140 (1): 163–5. 2005. doi:10.1016/j.ajo.2005.01.017. PMID 16038673.
- "IMPDH1 gene polymorphisms and association with acute rejection in renal transplant patients". Clin. Pharmacol. Ther. 83 (5): 711–7. 2008. doi:10.1038/sj.clpt.6100347. PMID 17851563.
- "Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India". Mol. Vis. 14: 1105–13. 2008. PMID 18552984.
- "Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis". Invest. Ophthalmol. Vis. Sci. 47 (1): 34–42. 2006. doi:10.1167/iovs.05-0868. PMID 16384941.
- "Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins". Arch. Biochem. Biophys. 472 (2): 100–4. 2008. doi:10.1016/j.abb.2008.02.012. PMID 18295591.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Expression of inosine monophosphate dehydrogenase type I and type II after mycophenolate mofetil treatment: a 2-year follow-up in kidney transplantation". Clin. Pharmacol. Ther. 83 (2): 328–35. 2008. doi:10.1038/sj.clpt.6100300. PMID 17713475.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene". Am. J. Ophthalmol. 140 (5): 858–867. 2005. doi:10.1016/j.ajo.2005.05.027. PMID 16214101.
- "Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn". Invest. Ophthalmol. Vis. Sci. 46 (5): 1735–41. 2005. doi:10.1167/iovs.04-1197. PMID 15851576.
- "PCR isolation and cloning of novel splice variant mRNAs from known drug target genes". Genomics 83 (4): 566–71. 2004. doi:10.1016/j.ygeno.2003.09.023. PMID 15028279.
- "IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance". Pharmacogenomics J. 7 (5): 312–7. 2007. doi:10.1038/sj.tpj.6500421. PMID 17001353.
- "Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals". Drug Metab. Pharmacokinet. 24 (6): 557–64. 2009. doi:10.2133/dmpk.24.557. PMID 20045992.
External links
- GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
- Overview of all the structural information available in the PDB for UniProt: P20839 (Inosine-5'-monophosphate dehydrogenase 1) at the PDBe-KB.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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