Property Summary

NCBI Gene PubMed Count 52
PubMed Score 108.26
PubTator Score 89.12

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
psoriasis 1.600 3.2e-04
tuberculosis 1.400 5.5e-09
inflammatory breast cancer 1.400 1.6e-02

Gene RIF (35)

PMID Text
25439607 In our cohort of >300 familial cases of autosomal-recessive retinitis pigmentosa, PKRP004 is the only family harboring a mutation in IMPDH1.
25105143 Expression of IMPDH mRNA after mycophenolate administration in male volunteers.
23534816 A novel mutation, p.L270R in IMPDH1, was found to be retinitis pigmentosa-causing in one family.
22301190 p53 has a novel function in regulating purine biosynthesis, aided by miR-34a-dependent IMPDH repression.
22183375 IMPDH has a function in the retina, apparently independent of its enzymatic activity, mediated by retina-specific variants.
21791244 IMPDH1 mutation is associated with retinitis pigmentosa.
20801516 Observational study of genetic testing. (HuGE Navigator)
20718729 resequenced IMPDH1 and IMPDH2 using DNA from 288 individuals from three ethnic groups and performed functional genomic studies of the sequence variants observed; identified 73 single nucleotide polymorphisms in IMPDH1, 59 novel
20679962 Potential associations between the most frequent single nucleotide polymorphisms in both IMPDH genes and clinical outcome in renal transplant recipients.
20679962 Observational study of gene-disease association. (HuGE Navigator)
20649757 Inosine 5'-monophosphate dehydrogenase 1 haplotypes have a role in mycophenolate mofetil gastrointestinal intolerance in pediatric heart transplant patients
20649757 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20238028 The mutation frequency of IMPDH1 gene of the Han population in Ganzhou city was similar as approximately 2-5% of the autosomal dominant retinitis pigmentosa cases among Americans of European origin and Europeans.
20238028 Observational study of gene-disease association. (HuGE Navigator)
20136638 The risk of subclinical acute rejection for recipients who cannot adapt in therapeutic drug monitoring of mycophenolic acid seems to be influenced by IMPDH1 rs2278293 polymorphism.
20061166 In this small sample of pediatric heart transplant patients receiving MMF, ABCC2, IMPDH1 and IMPDH2 SNPs were associated with MMF GI intolerance and bone marrow toxicity.
20061166 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20045992 Observational study of genotype prevalence. (HuGE Navigator)
18974094 IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA
18552984 RHO, PRPF31, RP1, and IMPDH1 were screened and causative mutations were identifiedin 4% of isolated and 2% of autosomal dominant forms of retinitis pigmentosa patients from India.
18552984 Observational study of gene-disease association. (HuGE Navigator)
18295591 C-terminal extension unique to the retinal isoforms blocks the nucleic acid binding site of IMPDH1, and thus uniquely regulates protein function within photoreceptors.
17851563 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17713475 Mycophenolate mofetil up-regulates IMPDH-I and IMPDH-II mRNA in peripheral blood mononuclear cells. May predict acute rejection.
17001353 If IMPDH genetic variability contributes to azathioprine resistance in inflammatory bowel disease it does so infrequently.
16936083 Identification of unique retinal isoforms supports the existence of a novel IMPDH1 function in the retina, one that is probably altered by disease-causing mutations.
16384941 Mutations in IMPDH1 account for approximately 2% of families with adRP, and de novo IMPDH1 mutations are also rare causes of isolated LCA (Leber congenital amaurosis).
16272056 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.
16214101 Asp226Asn mutation is associated with a severe, early-onset form of retinal degeneration in members of this family.
16038673 Observational study of genotype prevalence. (HuGE Navigator)
16038673 The most commonly reported Asp226Asn mutation was not found in the Japanese population, instead two novel mutations were found. These findings suggest that mutations of the IMPDH1 gene cause ADRP (autosomal dominant retinitis pigmentosa).
15851576 Observational study of gene-disease association. (HuGE Navigator)
15465556 A novel IMPDH1 gene mutation (Arg231Pro) was associated with a severe form of autosomal dominant retinitis pigmentosa.
11875050 A missense mutation in this isozyme causes human autosomal retinitis pigmentosa.
11875049 This mutant isoenzyme maps to human chromosome region 7q and has an amino acid substitution (arginine for proline). It is involved in the etiology of autosomal dominant retinitis pigmentosa in humans.

AA Sequence

MADYLISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPM      1 - 70
DTVTEADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFS     71 - 140
GIPITETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLP    141 - 210
IVNDCDELVAIIARTDLKKNRDYPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNS    211 - 280
VYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKV    281 - 350
AEYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAM    351 - 420
EKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYSGELKF    421 - 490
EKRTMSAQIEGGVHGLHSYEKRLY                                                  491 - 514
//

Text Mined References (53)

PMID Year Title
25439607 2015 Phenotypic variability associated with the D226N allele of IMPDH1.
25105143 2014 Expression of IMPDH mRNA after mycophenolate administration in male volunteers.
24940031 2014 Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.
23534816 2013 Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22301190 2012 A p53-inducible microRNA-34a downregulates Ras signaling by targeting IMPDH.
22183375 2012 Towards a pathological mechanism for IMPDH1-linked retinitis pigmentosa.
21791244 2011 Molecular recruitment as a basis for negative dominant inheritance? propagation of misfolding in oligomers of IMPDH1, the mutated enzyme in the RP10 form of retinitis pigmentosa.
21269460 2011 Initial characterization of the human central proteome.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20718729 2010 Pharmacogenetics of the mycophenolic acid targets inosine monophosphate dehydrogenases IMPDH1 and IMPDH2: gene sequence variation and functional genomics.
20679962 2010 Polymorphisms in type I and II inosine monophosphate dehydrogenase genes and association with clinical outcome in patients on mycophenolate mofetil.
20649757 2010 Inosine 5'-monophosphate dehydrogenase 1 haplotypes and association with mycophenolate mofetil gastrointestinal intolerance in pediatric heart transplant patients.
20238028 2010 Mutation frequency of IMPDH1 gene of Han population in Ganzhou City.
20136638 2010 Correlation of IMPDH1 gene polymorphisms with subclinical acute rejection and mycophenolic acid exposure parameters on day 28 after renal transplantation.
20061166 2010 Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients.
20045992 2009 Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals.
18974094 2008 IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA.
18552984 2008 Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.
18295591 2008 Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins.
17851563 2008 IMPDH1 gene polymorphisms and association with acute rejection in renal transplant patients.
17713475 2008 Expression of inosine monophosphate dehydrogenase type I and type II after mycophenolate mofetil treatment: a 2-year follow-up in kidney transplantation.
17001353 2007 IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance.
16936083 2006 Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?
16751776 2006 A germline-specific class of small RNAs binds mammalian Piwi proteins.
16384941 2006 Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16272056 2005 Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
16214101 2005 Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.
16038673 2005 Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa.
15851576 2005 Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15465556 2004 A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
15028279 2004 PCR isolation and cloning of novel splice variant mRNAs from known drug target genes.
14766016 2004 Inosine 5'-monophosphate dehydrogenase binds nucleic acids in vitro and in vivo.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11875050 2002 Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
11875049 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.
9020170 1997 Regulation of the human inosine monophosphate dehydrogenase type I gene. Utilization of alternative promoters.
8513324 1993 Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q.
7903306 1993 Characterization of human type I and type II IMP dehydrogenases.
7896827 1995 Characterization of the human inosine-5'-monophosphate dehydrogenase type II gene.
7896275 1994 Assignment of the human type I IMP dehydrogenase gene (IMPDH1) to chromosome 7q31.3-q32).
7814030 1995 Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family.
7763314 1995 Recombinant human inosine monophosphate dehydrogenase type I and type II proteins. Purification and characterization of inhibitor binding.
7635473 1995 An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q.
2902093 1988 Cloning and sequence analysis of the human and Chinese hamster inosine-5'-monophosphate dehydrogenase cDNAs.
1969416 1990 Two distinct cDNAs for human IMP dehydrogenase.
1574589 1992 De novo purine nucleotide biosynthesis.
1356621 1992 Increased inosine-5'-phosphate dehydrogenase gene expression in solid tumor tissues and tumor cell lines.