Free for academic non-profit institutions. Other users need a Commercial license

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 63
  • IMPDH 1 3 4
  • IMPDH-I 3 4
  • IMPD 1 3 4
  • IMPD1 3 4
  • Retinitis Pigmentosa 10 (Autosomal Dominant) 2
  • IMP Dehydrogenase 1 4
  • SWSS2608 3
  • LCA11 3
  • IMPD 3
  • RP10 3

External Ids for IMPDH1 Gene

Previous HGNC Symbols for IMPDH1 Gene

  • RP10

Previous GeneCards Identifiers for IMPDH1 Gene

  • GC07M126509
  • GC07M127572
  • GC07M127586
  • GC07M127626
  • GC07M127819
  • GC07M128032
  • GC07M122393

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 impdh1-related leber congenital amaurosis and impdh1-related retinitis pigmentosa. Among its related pathways are Metabolism and Pyrimidine metabolism (KEGG). GO annotations related to this gene include nucleic acid binding and 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

Regulatory Elements for IMPDH1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for IMPDH1 Gene

Chromosome:
7
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

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

  • Ubiquitination at Lys 134, Lys 208, and Lys 242
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for IMPDH1 (IMP Dehydrogenase 1/IMPDH1)

Domains & Families for IMPDH1 Gene

Graphical View of Domain Structure for InterPro Entry

P20839

UniProtKB/Swiss-Prot:

IMDH1_HUMAN :
  • Contains 2 CBS domains.
  • Belongs to the IMPDH/GMPR family.
Domain:
  • Contains 2 CBS domains.
Family:
  • Belongs to the IMPDH/GMPR family.
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:0003676 nucleic acid binding IDA 14766016
GO:0003677 DNA binding IDA 14766016
GO:0003723 RNA binding IEA --
GO:0003824 catalytic activity --
GO:0003938 IMP dehydrogenase activity IEA --
genes like me logo Genes that share ontologies with IMPDH1: view
genes like me logo Genes that share phenotypes with IMPDH1: view

Animal Models for IMPDH1 Gene

MGI Knock Outs for IMPDH1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IMPDH1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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

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 & Interactions 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:0009409 response to cold IEA --
genes like me logo Genes that share ontologies with IMPDH1: view

No data available for SIGNOR curated interactions for IMPDH1 Gene

Drugs & Compounds for IMPDH1 Gene

(16) Drugs for IMPDH1 Gene - From: HMDB, DrugBank, NovoSeek, ApexBio, DGIdb, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mycophenolic acid Approved Pharma inhibitor, Target 864
Mycophenolate mofetil Approved, Investigational Pharma inhibitor, Target IMPDH inhibitor 864
Ribavirin Approved Pharma inhibitor, Target 914
Mercaptopurine Approved Pharma Target, Inhibitor 0
Thioguanine Approved Pharma Purine antimetabolite 74

(8) Additional Compounds for IMPDH1 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
6-Thioinosine-5'-monophosphate
6-Thioxanthine 5'-monophosphate
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Xanthylic acid
  • (9-D-ribosylxanthine)-5'-phosphate
  • 5'-Xanthonylate monophosphate
  • Xanthosine 5'-phosphate
  • Xanthosine-5'-P
  • Xanthosine-5'-phosphate
523-98-8
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IMPDH1

Flow Cytometry Products

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 (x14.4).

Protein differential expression in normal tissues from HIPED for IMPDH1 Gene

This gene is overexpressed in Retina (44.7), Monocytes (6.7), and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with IMPDH1: view

Protein tissue co-expression partners for IMPDH1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for IMPDH1 Gene

Orthologs for IMPDH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IMPDH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia IMPDH1 35
  • 92.24 (n)
  • 97.51 (a)
IMPDH1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IMPDH1 35
  • 87.44 (n)
  • 90.1 (a)
IMPDH1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Impdh1 35
  • 90.53 (n)
  • 98.05 (a)
Impdh1 16
Impdh1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IMPDH1 35
  • 99.67 (n)
  • 99.83 (a)
IMPDH1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Impdh1 35
  • 90.31 (n)
  • 97.78 (a)
oppossum
(Monodelphis domestica)
Mammalia IMPDH1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IMPDH1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IMPDH1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia impdh1 35
  • 77.17 (n)
  • 92.61 (a)
Str.6890 35
zebrafish
(Danio rerio)
Actinopterygii impdh1a 35
  • 78.59 (n)
  • 91.36 (a)
impdh1a 36
  • 79 (a)
OneToMany
impdh1b 36
  • 86 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta ras 37
  • 68 (a)
ras 35
  • 67.53 (n)
  • 70.32 (a)
ras 36
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011133 35
  • 67.39 (n)
  • 69.88 (a)
worm
(Caenorhabditis elegans)
Secernentea T22D1.3 35
  • 56.91 (n)
  • 59.12 (a)
T22D1.3 36
  • 56 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER117W 35
  • 64.46 (n)
  • 63.73 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05511g 35
  • 59.39 (n)
  • 61.72 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMD4 35
  • 59.05 (n)
  • 63.93 (a)
IMD1 36
  • 55 (a)
ManyToMany
IMD2 36
  • 59 (a)
ManyToMany
IMD3 36
  • 61 (a)
ManyToMany
IMD4 36
  • 61 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G79470 35
  • 52.29 (n)
  • 47.77 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11932 35
rice
(Oryza sativa)
Liliopsida Os03g0780500 35
  • 58.14 (n)
  • 60.27 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03117 35
  • 62.65 (n)
  • 61.65 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gua1 35
  • 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

(3) 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, upstream-variant-2KB
rs1042251 -- 128,400,829(-) GAGGT(A/G)CGGAA synonymous-codon, reference, intron-variant, upstream-variant-2KB
rs1042252 -- 128,400,537(-) AAGAA(C/G)TTTGA missense, reference, 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

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

Variation tolerance for IMPDH1 Gene

Residual Variation Intolerance Score: 30.01% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IMPDH1 Gene

HapMap Linkage Disequilibrium report
IMPDH1
Human Gene Mutation Database (HGMD)
IMPDH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IMPDH1 Gene

Disorders for IMPDH1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for IMPDH1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

- elite association

UniProtKB/Swiss-Prot

IMDH1_HUMAN
  • 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.
  • 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.

Relevant External Links for IMPDH1

Genetic Association Database (GAD)
IMPDH1
Human Genome Epidemiology (HuGE) Navigator
IMPDH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IMPDH1
genes like me logo Genes that share disorders with IMPDH1: view

No data available for Genatlas for IMPDH1 Gene

Publications for IMPDH1 Gene

  1. IMPDH1 gene polymorphisms and association with acute rejection in renal transplant patients. (PMID: 17851563) Wang J. … Burckart G.J. (Clin. Pharmacol. Ther. 2008) 23 25 26 67
  2. Expression of inosine monophosphate dehydrogenase type I and type II after mycophenolate mofetil treatment: a 2-year follow-up in kidney transplantation. (PMID: 17713475) Sanquer S. … Lang P. (Clin. Pharmacol. Ther. 2008) 23 25 26 67
  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) 23 25 67
  4. 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 23 67
  5. 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 23 67

Products for IMPDH1 Gene

Sources for IMPDH1 Gene

Back to Top

Content