Property Summary

NCBI Gene PubMed Count 52
Grant Count 11
R01 Count 9
Funding $987,806.09
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 0.000
tuberculosis 1.400 0.000
inflammatory breast cancer 1.400 0.016

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)
More...

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.
More...