IMPDH1

Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.[5][6]

IMPDH1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1JCN
Identifiers
Aliases	IMPDH1, IMPD, IMPD1, IMPDH-I, LCA11, RP10, sWSS2608, IMP (inosine 5'-monophosphate) dehydrogenase 1, inosine monophosphate dehydrogenase 1
External IDs	OMIM: 146690 MGI: 96567 HomoloGene: 68096 GeneCards: IMPDH1
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q32.1 Start 128,392,277 bp[1] End 128,410,252 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 A3.3 Start 29,200,434 bp[2] End 29,216,364 bp[2]
Gene ontology Molecular function • metal ion binding • catalytic activity • RNA binding • nucleic acid binding • oxidoreductase activity • DNA binding • IMP dehydrogenase activity • nucleotide binding Cellular component • cytoplasm • cell nucleus • extracellular region • cytosol • secretory granule lumen • azurophil granule lumen • ficolin-1-rich granule lumen Biological process • purine nucleotide biosynthetic process • purine ribonucleoside monophosphate biosynthetic process • lymphocyte proliferation • GMP biosynthetic process • oxidation-reduction process • GTP biosynthetic process • neutrophil degranulation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3614	23917
Ensembl	ENSG00000106348	ENSMUSG00000003500
UniProt	P20839	P50096
RefSeq (mRNA)	NM_000883 NM_001102605 NM_001142573 NM_001142574 NM_001142575 NM_001142576 NM_001304521 NM_183243	NM_011829 NM_001302933 NM_001302934
RefSeq (protein)	NP_000874 NP_001096075 NP_001136045 NP_001136046 NP_001136047 NP_001136048 NP_001291450 NP_899066	NP_001289862 NP_001289863 NP_035959
Location (UCSC)	Chr 7: 128.39 – 128.41 Mb	Chr 6: 29.2 – 29.22 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[5]

Clinical significance

Defects in the IMPDH1 gene are a cause of retinitis pigmentosa type 10 (RP10).[5][7][8]

See also

• IMP dehydrogenase

References

1. GRCh38: Ensembl release 89: ENSG00000106348 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000003500 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: IMP (inosine monophosphate) dehydrogenase 1".
6. Natsumeda Y, Ohno S, Kawasaki H, Konno Y, Weber G, Suzuki K (March 1990). "Two distinct cDNAs for human IMP dehydrogenase". J. Biol. Chem. 265 (9): 5292–5. PMID 1969416.
7. Kennan A, Aherne A, Palfi A, Humphries M, McKee A, Stitt A, Simpson DA, Demtroder K, Orntoft T, Ayuso C, Kenna PF, Farrar GJ, Humphries P (March 2002). "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. doi:10.1093/hmg/11.5.547. PMID 11875049.
8. Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP (March 2002). "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. doi:10.1093/hmg/11.5.559. PMC 2585828. PMID 11875050.

Further reading

• Mortimer SE, Xu D, McGrew D, et al. (2008). "IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA". J. Biol. Chem. 283 (52): 36354–60. doi:10.1074/jbc.M806143200. PMC 2605994. PMID 18974094.
• Ohmann EL, Burckart GJ, Brooks MM, et al. (2010). "Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients". The Journal of Heart and Lung Transplantation. 29 (5): 509–516. doi:10.1016/j.healun.2009.11.602. PMID 20061166.
• Grover S, Fishman GA, Stone EM (2004). "A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa". Ophthalmology. 111 (10): 1910–6. doi:10.1016/j.ophtha.2004.03.039. PMID 15465556.
• Bowne SJ, Liu Q, Sullivan LS, et al. (2006). "Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?". Invest. Ophthalmol. Vis. Sci. 47 (9): 3754–65. doi:10.1167/iovs.06-0207. PMC 2581456. PMID 16936083.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Schatz P, Ponjavic V, Andréasson S, et al. (2005). "Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene". Ophthalmic Genet. 26 (3): 119–24. doi:10.1080/13816810500229090. PMID 16272056.
• Wada Y, Tada A, Itabashi T, et al. (2005). "Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa". Am. J. Ophthalmol. 140 (1): 163–5. doi:10.1016/j.ajo.2005.01.017. PMID 16038673.
• Wang J, Yang JW, Zeevi A, et al. (2008). "IMPDH1 gene polymorphisms and association with acute rejection in renal transplant patients". Clin. Pharmacol. Ther. 83 (5): 711–7. doi:10.1038/sj.clpt.6100347. PMID 17851563.
• Gandra M, Anandula V, Authiappan V, et al. (2008). "Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India". Mol. Vis. 14: 1105–13. PMC 2426732. PMID 18552984.
• Bowne SJ, Sullivan LS, Mortimer SE, et al. (2006). "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. doi:10.1167/iovs.05-0868. PMC 2581444. PMID 16384941.
• Xu D, Cobb G, Spellicy CJ, et al. (2008). "Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins". Arch. Biochem. Biophys. 472 (2): 100–4. doi:10.1016/j.abb.2008.02.012. PMC 2366119. PMID 18295591.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Sanquer S, Maison P, Tomkiewicz C, et al. (2008). "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. doi:10.1038/sj.clpt.6100300. PMID 17713475.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Kozma P, Hughbanks-Wheaton DK, Locke KG, et al. (2005). "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. doi:10.1016/j.ajo.2005.05.027. PMC 2771559. PMID 16214101.
• Wada Y, Sandberg MA, McGee TL, et al. (2005). "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. doi:10.1167/iovs.04-1197. PMID 15851576.
• Jin P, Fu GK, Wilson AD, et al. (2004). "PCR isolation and cloning of novel splice variant mRNAs from known drug target genes". Genomics. 83 (4): 566–71. doi:10.1016/j.ygeno.2003.09.023. PMID 15028279.
• Roberts RL, Gearry RB, Barclay ML, Kennedy MA (2007). "IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance". Pharmacogenomics J. 7 (5): 312–7. doi:10.1038/sj.tpj.6500421. PMID 17001353.
• Kudo M, Saito Y, Sasaki T, et al. (2009). "Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals". Drug Metab. Pharmacokinet. 24 (6): 557–64. 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.