Hmdb loader
Survey
Identification
HMDB Protein ID HMDBP00883
Secondary Accession Numbers
  • 6165
  • HMDBP03777
Name Inosine-5'-monophosphate dehydrogenase 1
Synonyms
  1. IMP dehydrogenase 1
  2. IMPD 1
  3. IMPDH 1
  4. IMPDH-I
Gene Name IMPDH1
Protein Type Unknown
Biological Properties
General Function Involved in catalytic activity
Specific 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.
Pathways
  • Adenine phosphoribosyltransferase deficiency (APRT)
  • Adenosine Deaminase Deficiency
  • Adenylosuccinate Lyase Deficiency
  • AICA-Ribosiduria
  • Azathioprine Action Pathway
  • Drug metabolism - other enzymes
  • Gout or Kelley-Seegmiller Syndrome
  • Lesch-Nyhan Syndrome (LNS)
  • Mercaptopurine Action Pathway
  • Mercaptopurine Metabolism Pathway
  • Mitochondrial DNA depletion syndrome
  • Molybdenum Cofactor Deficiency
  • Mycophenolic Acid Metabolism Pathway
  • Myoadenylate deaminase deficiency
  • Purine metabolism
  • Purine metabolism
  • Purine Nucleoside Phosphorylase Deficiency
  • Thioguanine Action Pathway
  • Xanthine Dehydrogenase Deficiency (Xanthinuria)
  • Xanthinuria type I
  • Xanthinuria type II
  • XMP biosynthesis via de novo pathway
Reactions
Inosinic acid + NAD + Water → Xanthylic acid + NADH details
Inosinic acid + NAD + Water → Xanthylic acid + NADH + Hydrogen Ion details
6-Thioinosine-5'-monophosphate + NAD + Water → 6-Thioxanthine 5'-monophosphate + NADH + Hydrogen Ion details
GO Classification
Biological Process
purine nucleobase metabolic process
GMP biosynthetic process
purine ribonucleoside monophosphate biosynthetic process
lymphocyte proliferation
Cellular Component
cytosol
nucleus
Function
catalytic activity
imp dehydrogenase activity
oxidoreductase activity, acting on the ch-oh group of donors, nad or nadp as acceptor
oxidoreductase activity, acting on ch-oh group of donors
oxidoreductase activity
Molecular Function
metal ion binding
IMP dehydrogenase activity
RNA binding
DNA binding
Process
metabolic process
oxidation reduction
Cellular Location Not Available
Gene Properties
Chromosome Location 7
Locus 7q31.3-q32
SNPs IMPDH1
Gene Sequence
>1545 bp
ATGGCGGACTACCTGATCAGCGGCGGCACCGGCTACGTGCCCGAGGATGGGCTCACCGCG
CAGCAGCTCTTCGCCAGCGCCGACGGCCTCACCTACAACGACTTCCTGATTCTCCCAGGA
TTCATAGACTTCATAGCTGATGAGGTGGACCTGACCTCAGCCCTGACCCGGAAGATCACG
CTGAAGACGCCACTGATCTCCTCCCCCATGGACACTGTGACAGAGGCTGACATGGCCATT
GCCATGGCTCTGATGGGAGGTATTGGTTTCATTCACCACAACTGCACCCCAGAGTTCCAG
GCCAACGAGGTGCGGAAGGTCAAGAAGTTTGAACAGGGCTTCATCACGGACCCTGTGGTG
CTGAGCCCCTCGCACACTGTGGGCGATGTGCTGGAGGCCAAGATGCGGCATGGCTTCTCT
GGCATCCCCATCACTGAGACGGGCACCATGGGCAGCAAGCTGGTGGGCATCGTCACCTCC
CGAGACATCGACTTTCTTGCTGAGAAGGACCACACCACCCTCCTCAGTGAGGTGATGACG
CCAAGGATTGAACTGGTGGTGGCTCCAGCAGGTGTGACGTTGAAAGAGGCAAATGAGATC
CTGCAGCGTAGCAAGAAAGGGAAGCTGCCTATCGTCAATGATTGCGATGAGCTGGTGGCC
ATCATCGCCCGCACCGACCTGAAGAAGAACCGAGACTACCCTCTGGCCTCCAAGGATTCC
CAGAAGCAGCTGCTCTGTGGGGCAGCTGTGGGCACCCGTGAGGATGACAAATACCGTCTG
GACCTGCTCACCCAGGCGGGCGTCGACGTCATAGTCTTGGACTCGTCCCAAGGGAATTCG
GTGTATCAGATCGCCATGGTGCATTACATCAAACAGAAGTACCCCCACCTCCAGGTGATT
GGGGGGAACGTGGTGACAGCAGCCCAGGCCAAGAACCTGATTGATGCTGGTGTGGACGGG
CTGCGCGTGGGCATGGGCTGCGGCTCCATCTGCATCACCCAGGAAGTGATGGCCTGTGGT
CGGCCCCAGGGCACTGCTGTGTACAAGGTGGCTGAGTATGCCCGGCGCTTTGGTGTGCCC
ATCATAGCCGATGGCGGCATCCAGACCGTGGGACACGTGGTCAAGGCCCTGGCCCTTGGA
GCCTCCACAGTGATGATGGGCTCCCTGCTGGCCGCCACTACGGAGGCCCCTGGCGAGTAC
TTCTTCTCAGACGGGGTGCGGCTCAAGAAGTACCGGGGCATGGGCTCACTGGATGCCATG
GAGAAGAGCAGCAGCAGCCAGAAACGATACTTCAGCGAGGGGGATAAAGTGAAGATCGCG
CAGGGTGTCTCGGGCTCCATCCAGGACAAAGGATCCATTCAGAAGTTCGTGCCCTACCTC
ATAGCAGGCATCCAACACGGCTGCCAGGATATCGGGGCCCGCAGCCTGTCTGTCCTTCGG
TCCATGATGTACTCAGGAGAGCTCAAGTTTGAGAAGCGGACCATGTCGGCCCAGATTGAG
GGTGGTGTCCATGGCCTGCACTCTTACGAAAAGCGGCTGTACTGA
Protein Properties
Number of Residues 514
Molecular Weight 63252.24
Theoretical pI 6.845
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Inosine-5'-monophosphate dehydrogenase 1
MADYLISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKIT
LKTPLISSPMDTVTEADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVV
LSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMT
PRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTDLKKNRDYPLASKDS
QKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVI
GGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVP
IIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAM
EKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLR
SMMYSGELKFEKRTMSAQIEGGVHGLHSYEKRLY
GenBank ID Protein 217035146
UniProtKB/Swiss-Prot ID P20839
UniProtKB/Swiss-Prot Entry Name IMDH1_HUMAN
PDB IDs
GenBank Gene ID NM_001142573.1
GeneCard ID IMPDH1
GenAtlas ID IMPDH1
HGNC ID HGNC:6052
References
General References
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  5. Natsumeda Y, Ohno S, Kawasaki H, Konno Y, Weber G, Suzuki K: Two distinct cDNAs for human IMP dehydrogenase. J Biol Chem. 1990 Mar 25;265(9):5292-5. [PubMed:1969416 ]
  6. Hager PW, Collart FR, Huberman E, Mitchell BS: Recombinant human inosine monophosphate dehydrogenase type I and type II proteins. Purification and characterization of inhibitor binding. Biochem Pharmacol. 1995 May 11;49(9):1323-9. [PubMed:7763314 ]
  7. Kennan A, Aherne A, Palfi A, Humphries M, McKee A, Stitt A, Simpson DA, Demtroder K, Orntoft T, Ayuso C, Kenna PF, Farrar GJ, Humphries P: 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 Mar 1;11(5):547-57. [PubMed:11875049 ]
  8. Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP: Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002 Mar 1;11(5):559-68. [PubMed:11875050 ]