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Aliases for IMPDH1 Gene

Aliases for IMPDH1 Gene

  • IMP (Inosine 5'-Monophosphate) Dehydrogenase 1 2
  • IMP (Inosine 5-Monophosphate) Dehydrogenase 1 2 3
  • IMP (Inosine Monophosphate) Dehydrogenase 1 2 3
  • EC 1.1.1.205 4 64
  • IMPDH 1 3 4
  • IMPDH-I 3 4
  • IMPD 1 3 4
  • LCA11 3 6
  • IMPD1 3 4
  • RP10 3 6
  • Retinitis Pigmentosa 10 (Autosomal Dominant) 2
  • Inosine-5-Monophosphate Dehydrogenase 1 3
  • IMP Dehydrogenase 1 4
  • SWSS2608 3
  • IMPD 3

External Ids for IMPDH1 Gene

Previous Symbols for IMPDH1 Gene

  • RP10

Summaries for IMPDH1 Gene

Entrez Gene Summary for IMPDH1 Gene

  • The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein 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. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

GeneCards Summary for IMPDH1 Gene

IMPDH1 (IMP (Inosine 5'-Monophosphate) Dehydrogenase 1) is a Protein Coding gene. Diseases associated with IMPDH1 include retinitis pigmentosa 10 and leber congenital amaurosis 11. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include RNA binding and adenyl nucleotide binding. An important paralog of this gene is IMPDH2.

UniProtKB/Swiss-Prot for IMPDH1 Gene

  • 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

Gene Wiki entry for IMPDH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IMPDH1 Gene

Genomics for IMPDH1 Gene

Genomic Location for IMPDH1 Gene

Start:
128,392,277 bp from pter
End:
128,410,252 bp from pter
Size:
17,976 bases
Orientation:
Minus strand

Genomic View for IMPDH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IMPDH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IMPDH1 Gene

Regulatory Elements for IMPDH1 Gene

Proteins for IMPDH1 Gene

  • Protein details for IMPDH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20839-IMDH1_HUMAN
    Recommended name:
    Inosine-5-monophosphate dehydrogenase 1
    Protein Accession:
    P20839
    Secondary Accessions:
    • A4D0Z6
    • A4D0Z7
    • A6NDW5
    • A6NNI6
    • B3KNP7
    • B3KVM8
    • B4DE09
    • C9JV30
    • J3KNX8
    • Q8N194
    • Q96NU2

    Protein attributes for IMPDH1 Gene

    Size:
    514 amino acids
    Molecular mass:
    55406 Da
    Cofactor:
    Name=K(+); Xref=ChEBI:CHEBI:29103;
    Quaternary structure:
    • Homotetramer.
    Miscellaneous:
    • Because IMPDH activity is tightly linked with cell proliferation, it has been recognized as a target for cancer and viral chemotherapy and as a target for immunosuppressive drugs. The activities of the antitumor drug tiazofurin, the antiviral drug ribavirin, and the immunosuppressive drugs mizoribine and mycophenolic acid (MPA) are attributed to the inhibition of IMPDH. In addition, bacterial and parasitic IMPDHs differ significantly from mammalian enzymes, which makes it a suitable target for anti-infective drugs

    Three dimensional structures from OCA and Proteopedia for IMPDH1 Gene

    Alternative splice isoforms for IMPDH1 Gene

neXtProt entry for IMPDH1 Gene

Proteomics data for IMPDH1 Gene at MOPED

Post-translational modifications for IMPDH1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys134, Lys208, and Lys242

Domains for IMPDH1 Gene

UniProtKB/Swiss-Prot:

IMDH1_HUMAN
Domain:
  • Contains 2 CBS domains.:
    • P20839
Family:
  • Belongs to the IMPDH/GMPR family.:
    • P20839
genes like me logo Genes that share domains with IMPDH1: view

No data available for Gene Families for IMPDH1 Gene

Function for IMPDH1 Gene

Molecular function for IMPDH1 Gene

GENATLAS Biochemistry: inosine 5-monophosphate dehydrogenase,type I,paralog to IMPDH2
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=18 uM for Inosine 5-phosphate {ECO:0000269 PubMed:7763314, ECO:0000269 PubMed:7903306}; KM=46 uM for NAD(+) {ECO:0000269 PubMed:7763314, ECO:0000269 PubMed:7903306};
UniProtKB/Swiss-Prot CatalyticActivity: Inosine 5-phosphate + NAD(+) + H(2)O = xanthosine 5-phosphate + NADH.
UniProtKB/Swiss-Prot EnzymeRegulation: Mycophenolic acid (MPA) is a non-competitive inhibitor that prevents formation of the closed enzyme conformation by binding to the same site as the amobile flap. In contrast, mizoribine monophosphate (MZP) is a competitive inhibitor that induces the closed conformation. MPA is a potent inhibitor of mammalian IMPDHs but a poor inhibitor of the bacterial enzymes. MZP is a more potent inhibitor of bacterial IMPDH. Subject to product inhibition by XMP and NADH. Also inhibited by ADP.
UniProtKB/Swiss-Prot 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
UniProtKB/Swiss-Prot Induction: Constitutively expressed

Enzyme Numbers (IUBMB) for IMPDH1 Gene

Gene Ontology (GO) - Molecular Function for IMPDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IDA 14766016
GO:0003677 DNA binding IDA 14766016
GO:0003723 RNA binding IEA --
GO:0003824 catalytic activity --
genes like me logo Genes that share ontologies with IMPDH1: view

Phenotypes for IMPDH1 Gene

genes like me logo Genes that share phenotypes with IMPDH1: view

Animal Models for IMPDH1 Gene

MGI Knock Outs for IMPDH1:

No data available for Transcription Factor Targeting and HOMER Transcription for IMPDH1 Gene

Localization for IMPDH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IMPDH1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IMPDH1 Gene COMPARTMENTS Subcellular localization image for IMPDH1 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for IMPDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 14766016
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 14766016
GO:0005829 cytosol TAS --
GO:0030054 cell junction IDA --
genes like me logo Genes that share ontologies with IMPDH1: view

Pathways for IMPDH1 Gene

genes like me logo Genes that share pathways with IMPDH1: view

UniProtKB/Swiss-Prot P20839-IMDH1_HUMAN

  • Pathway: Purine metabolism; XMP biosynthesis via de novo pathway; XMP from IMP: step 1/1.

Interacting Proteins for IMPDH1 Gene

Gene Ontology (GO) - Biological Process for IMPDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006144 purine nucleobase metabolic process TAS --
GO:0006164 purine nucleotide biosynthetic process --
GO:0006177 GMP biosynthetic process IEA --
GO:0009168 purine ribonucleoside monophosphate biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with IMPDH1: view

Compounds for IMPDH1 Gene

(6) HMDB Compounds for IMPDH1 Gene

Compound Synonyms Cas Number PubMed IDs
Inosinic acid
  • 5'-IMP
131-99-7
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
Potassium
  • K+
7440-09-7
Water
  • Dihydrogen oxide
7732-18-5

(5) Drugbank Compounds for IMPDH1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
6-Chloropurine Riboside, 5'-Monophosphate
target
Mycophenolate mofetil
  • MMF
128794-94-5 target inhibitor
Mycophenolic acid
24280-93-1 target inhibitor
NADH
  • beta-DPNH
606-68-8 target
Ribavirin
  • RBV
36791-04-5 target inhibitor

(6) Novoseek inferred chemical compound relationships for IMPDH1 Gene

Compound -log(P) Hits PubMed IDs
inosine monophosphate 94 27
mycophenolic acid 74.2 8
nicotinamide 41.4 1
gtp 32.2 3
nad+ 30.7 1

(1) PharmGKB related drug/compound annotations for IMPDH1 Gene

Drug/compound Annotation
mycophenolate mofetil CA
genes like me logo Genes that share compounds with IMPDH1: view

Transcripts for IMPDH1 Gene

Unigene Clusters for IMPDH1 Gene

IMP (inosine 5-monophosphate) dehydrogenase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IMPDH1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14 ^
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - - -
SP5: - - - - - -
SP6: - - - - - - - -
SP7: - - - -
SP8: - -
SP9: - - - - -
SP10: - - - -
SP11: - -
SP12:
SP13: -
SP14:
SP15:
SP16:

ExUns: 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: -

Relevant External Links for IMPDH1 Gene

GeneLoc Exon Structure for
IMPDH1
ECgene alternative splicing isoforms for
IMPDH1

Expression for IMPDH1 Gene

mRNA expression in normal human tissues for IMPDH1 Gene

mRNA differential expression in normal tissues according to GTEx for IMPDH1 Gene

This gene is overexpressed in Whole Blood (14.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IMPDH1 Gene

SOURCE GeneReport for Unigene cluster for IMPDH1 Gene Hs.654401

mRNA Expression by UniProt/SwissProt for IMPDH1 Gene

P20839-IMDH1_HUMAN
Tissue specificity: IMP type I is the main species in normal leukocytes and type II predominates over type I in the tumor
genes like me logo Genes that share expressions with IMPDH1: view

Orthologs for IMPDH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IMPDH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IMPDH1 36
  • 99.67 (n)
  • 99.83 (a)
IMPDH1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IMPDH1 36
  • 92.24 (n)
  • 97.51 (a)
IMPDH1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IMPDH1 36
  • 87.44 (n)
  • 90.1 (a)
IMPDH1 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Impdh1 36
  • 90.53 (n)
  • 98.05 (a)
Impdh1 16
Impdh1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IMPDH1 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IMPDH1 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Impdh1 36
  • 90.31 (n)
  • 97.78 (a)
lizard
(Anolis carolinensis)
Reptilia IMPDH1 37
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia impdh1 36
  • 77.17 (n)
  • 92.61 (a)
Str.6890 36
zebrafish
(Danio rerio)
Actinopterygii impdh1a 36
  • 78.59 (n)
  • 91.36 (a)
impdh1a 37
  • 79 (a)
OneToMany
impdh1b 37
  • 86 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011133 36
  • 67.39 (n)
  • 69.88 (a)
fruit fly
(Drosophila melanogaster)
Insecta ras 36
  • 67.53 (n)
  • 70.32 (a)
ras 37
  • 67 (a)
OneToOne
ras 38
  • 68 (a)
worm
(Caenorhabditis elegans)
Secernentea T22D1.3 36
  • 56.91 (n)
  • 59.12 (a)
T22D1.3 37
  • 56 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER117W 36
  • 64.46 (n)
  • 63.73 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMD1 37
  • 55 (a)
ManyToMany
IMD2 37
  • 59 (a)
ManyToMany
IMD3 37
  • 61 (a)
ManyToMany
IMD4 36
  • 59.05 (n)
  • 63.93 (a)
IMD4 37
  • 61 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05511g 36
  • 59.39 (n)
  • 61.72 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11932 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G79470 36
  • 52.29 (n)
  • 47.77 (a)
rice
(Oryza sativa)
Liliopsida Os03g0780500 36
  • 58.14 (n)
  • 60.27 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03117 36
  • 62.65 (n)
  • 61.65 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gua1 36
  • 57.49 (n)
  • 60.68 (a)
Species with no ortholog for IMPDH1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IMPDH1 Gene

ENSEMBL:
Gene Tree for IMPDH1 (if available)
TreeFam:
Gene Tree for IMPDH1 (if available)

Paralogs for IMPDH1 Gene

Paralogs for IMPDH1 Gene

Selected SIMAP similar genes for IMPDH1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with IMPDH1: view

Variants for IMPDH1 Gene

Sequence variations from dbSNP and Humsavar for IMPDH1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1042247 -- 128,401,069(-) CCACT(C/G)ATCTC synonymous-codon, reference, utr-variant-5-prime
rs1042251 -- 128,400,829(-) GAGGT(A/G)CGGAA synonymous-codon, reference, intron-variant, utr-variant-5-prime
rs1042253 -- 128,398,543(-) AAGAA(C/T)CGAGA reference, synonymous-codon
rs1042267 -- 128,392,776(-) CCGAG(A/C)CCAGC utr-variant-3-prime
rs1042271 -- 128,392,754(-) TCAGG(A/C)CCTGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for IMPDH1 Gene

Variant ID Type Subtype PubMed ID
nsv831124 CNV Gain+Loss 17160897
nsv889191 CNV Loss 21882294
esv2493565 CNV Deletion 19546169
nsv515737 CNV Loss 19592680

Relevant External Links for IMPDH1 Gene

HapMap Linkage Disequilibrium report
IMPDH1
Human Gene Mutation Database (HGMD)
IMPDH1
Locus Specific Mutation Databases (LSDB)
IMPDH1

Disorders for IMPDH1 Gene

(2) OMIM Diseases for IMPDH1 Gene (146690)

UniProtKB/Swiss-Prot

IMDH1_HUMAN
  • Retinitis pigmentosa 10 (RP10) [MIM:180105]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:11875049, ECO:0000269 PubMed:11875050, ECO:0000269 PubMed:16384941}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leber congenital amaurosis 11 (LCA11) [MIM:613837]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:16384941}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for IMPDH1 Gene

(4) Novoseek inferred disease relationships for IMPDH1 Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 88.2 26
lebers congenital amaurosis 83.2 4
retinal degeneration 79.2 3
retinopathy 62.9 4

Relevant External Links for IMPDH1

GeneTests
IMPDH1
GeneReviews
IMPDH1
Genetic Association Database (GAD)
IMPDH1
Human Genome Epidemiology (HuGE) Navigator
IMPDH1
genes like me logo Genes that share disorders with IMPDH1: view

Publications for IMPDH1 Gene

  1. 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. (PMID: 11875049) Kennan A. … Humphries P. (Hum. Mol. Genet. 2002) 2 3 4 23
  2. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. (PMID: 11875050) Bowne S.J. … Daiger S.P. (Hum. Mol. Genet. 2002) 2 3 4 23
  3. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis. (PMID: 16384941) Bowne S.J. … Daiger S.P. (Invest. Ophthalmol. Vis. Sci. 2006) 3 4 23 25
  4. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. (PMID: 15851576) Wada Y. … Dryja T.P. (Invest. Ophthalmol. Vis. Sci. 2005) 3 23 49
  5. Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa. (PMID: 16038673) Wada Y. … Tamai M. (Am. J. Ophthalmol. 2005) 3 23 49

Products for IMPDH1 Gene

Sources for IMPDH1 Gene

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