Inosine-5'-monophosphate dehydrogenase 1

UniProt P20839 Organism Homo sapiens Gene IMPD1, IMPDH1 EC 1.1.1.205

Also known as: IMPD1, IMPDH1

Function

Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.

Classification

Family (Pfam): PF00571 CBS, PF00478 IMPDH
InterPro: Aldolase_TIM, CBS_dom, IMP_DH, IMP_DH/GMP_Rdtase_CS, IMP_DH_GMPRt
Functional cluster: Amino Acid & Cofactor Biosynthesis Enzymes

Experimental structures · PDB · 18

1JCN X-ray 2.50A
7RER EM 2.60A
7RES EM 3.05A
7RFE EM 2.60A
7RFF EM 2.70A
7RFG EM 2.60A
7RFH EM 3.70A
7RFI EM 2.60A
7RGD EM 3.00A
7RGI EM 3.60A
7RGL EM 2.40A
7RGM EM 2.80A
… and 6 more

A predicted model is available from AlphaFold.

Gene Ontology · 17

Disease associations

retinitis pigmentosa 10 MONDO:0008379
Leber congenital amaurosis 11 MONDO:0013454

Drugs targeting this protein · 9

MYCOPHENOLATE MOFETIL HYDROCHLORIDE inhibitor
MYCOPHENOLATE MOFETIL inhibitor
RIBAVIRIN inhibitor
MYCOPHENOLATE SODIUM inhibitor
MIZORIBINE inhibitor
MERIMEPODIB inhibitor
AVN-944 inhibitor
THIOGUANINE inhibitor
MYCOPHENOLIC ACID inhibitor

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Inosine-5'-monophosphate dehydrogenase 2 4 shared papers
Inosine-5'-monophosphate dehydrogenase 1 shared papers
Sex hormone-binding globulin 1 shared papers
Prolyl 4-hydroxylase subunit alpha-1 1 shared papers
Granulocyte colony-stimulating factor 1 shared papers
T-cell surface glycoprotein CD3 delta chain 1 shared papers
5-hydroxytryptamine receptor 3A 1 shared papers
Glycine receptor subunit beta 1 shared papers

Literature · 14 cited papers

Toward a comprehensive characterization of a human cancer cell phosphoproteome. J. Proteome Res. · 2013
Initial characterization of the human central proteome. BMC Syst. Biol. · 2011
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. · 2006
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
PCR isolation and cloning of novel splice variant mRNAs from known drug target genes. Genomics · 2004
Inosine 5'-monophosphate dehydrogenase binds nucleic acids in vitro and in vivo. Biochem. J. · 2004
Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. · 2004
The DNA sequence of human chromosome 7. Nature · 2003
Human chromosome 7: DNA sequence and biology. Science · 2003
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. · 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. Hum. Mol. Genet. · 2002
Characterization of human type I and type II IMP dehydrogenases. J. Biol. Chem. · 1993
… and 2 more in the literature graph

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