IMPDH1

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; OMA:IMPDH1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7q32.1 Start 128,392,277 bp End 128,410,252 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6|6 A3.3 Start 29,200,433 bp End 29,216,363 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte monocyte body of stomach stromal cell of endometrium blood spleen gastric mucosa apex of heart tibial nerve upper lobe of left lung Top expressed in neural layer of retina olfactory epithelium thymus retinal pigment epithelium morula superior frontal gyrus lumbar spinal ganglion dentate gyrus of hippocampal formation granule cell primary visual cortex embryo More reference expression data BioGPS n/a
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 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 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
Wikidata
View/Edit Human View/Edit Mouse

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

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.

Clinical significance

Defects in the IMPDH1 gene are a cause of retinitis pigmentosa type 10 (RP10).

See also

• IMP dehydrogenase

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. S2CID 33839722.
• 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. S2CID 12718828.
• 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. S2CID 44919245.
• 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. S2CID 11257472.
• 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.