IMPDH1 (inosine monophosphate dehydrogenase 1)

2006-10-01  

Identity

HGNC
LOCATION
7q32.1
LOCUSID
ALIAS
IMPD,IMPD1,IMPDH-I,LCA11,RP10,sWSS2608
FUSION GENES

Other Information

Locus ID:

NCBI: 3614
MIM: 146690
HGNC: 6052
Ensembl: ENSG00000106348

Variants:

dbSNP: 3614
ClinVar: 3614
TCGA: ENSG00000106348
COSMIC: IMPDH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106348ENST00000338791P20839
ENSG00000106348ENST00000348127P20839
ENSG00000106348ENST00000354269P20839
ENSG00000106348ENST00000419067P20839
ENSG00000106348ENST00000469328H7C5T1
ENSG00000106348ENST00000470772C9J381
ENSG00000106348ENST00000473463F8WDE9
ENSG00000106348ENST00000480861P20839
ENSG00000106348ENST00000484496H7C511
ENSG00000106348ENST00000489263C9J029
ENSG00000106348ENST00000496200P20839
ENSG00000106348ENST00000497868C9K0R9
ENSG00000106348ENST00000626419C9J381
ENSG00000106348ENST00000648462A0A3B3IRL5

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Drug metabolism - other enzymesKEGGko00983
Purine metabolismKEGGhsa00230
Drug metabolism - other enzymesKEGGhsa00983
Metabolic pathwaysKEGGhsa01100
Guanine ribonucleotide biosynthesis IMP => GDP,GTPKEGGM00050
Guanine ribonucleotide biosynthesis IMP => GDP,GTPKEGGhsa_M00050
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine ribonucleoside monophosphate biosynthesisREACTOMER-HSA-73817
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133888799Organ TransplantationDiseaseClinicalAnnotationassociatedPD17851563, 20136638, 20649757, 20679962, 21142914, 22960765
PA164748728mycophenolic acidChemicalPathwayassociated24220207
PA165817016Kidney TransplantationDiseaseClinicalAnnotationassociatedPD17851563, 20136638, 20679962, 21142914, 22960765
PA444773LeukopeniaDiseaseClinicalAnnotationassociatedPD20679962, 21142914
PA450566mycophenolate mofetilChemicalClinicalAnnotationassociatedPD17851563, 20136638, 20649757, 20679962, 21142914, 22960765

References

Pubmed IDYearTitleCitations
366290542023c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming.6
372595722023IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.0
366290542023c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming.6
372595722023IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.0
350135992022IMPDH1 retinal variants control filament architecture to tune allosteric regulation.22
354032782022Inosine monophosphate dehydrogenase type1 sustains tumor growth in hepatocellular carcinoma.1
364946802022MYBL2 regulates de novo purine synthesis by transcriptionally activating IMPDH1 in hepatocellular carcinoma cells.3
366184202022IMPDH1, a prognostic biomarker and immunotherapy target that correlates with tumor immune microenvironment in pan-cancer and hepatocellular carcinoma.3
350135992022IMPDH1 retinal variants control filament architecture to tune allosteric regulation.22
354032782022Inosine monophosphate dehydrogenase type1 sustains tumor growth in hepatocellular carcinoma.1
364946802022MYBL2 regulates de novo purine synthesis by transcriptionally activating IMPDH1 in hepatocellular carcinoma cells.3
366184202022IMPDH1, a prognostic biomarker and immunotherapy target that correlates with tumor immune microenvironment in pan-cancer and hepatocellular carcinoma.3
346436162021Inosine 5'-Monophosphate Dehydrogenase Cytoophidia Neighbor Insulin Granules in Pancreatic β Cells.0
346436162021Inosine 5'-Monophosphate Dehydrogenase Cytoophidia Neighbor Insulin Granules in Pancreatic β Cells.0
318831962020IMP dehydrogenase rod/ring structures in acral melanomas.6

Citation

Dessen P

IMPDH1 (inosine monophosphate dehydrogenase 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43316/impdh1