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; OMA:IMPDH1 - orthologs
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 29,200,433 bp[2] End 29,216,363 bp[2]
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 [3] [4]
Wikidata
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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