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Aliases for IMPDH1 Gene

Aliases for IMPDH1 Gene

  • Inosine Monophosphate Dehydrogenase 1 2 3 5
  • IMP (Inosine 5-Monophosphate) Dehydrogenase 1 2 3
  • IMPDH 1 3 4
  • IMPDH-I 3 4
  • IMPD 1 3 4
  • IMPD1 3 4
  • Retinitis Pigmentosa 10 (Autosomal Dominant) 2
  • IMP (Inosine Monophosphate) Dehydrogenase 1 3
  • Inosine-5-Monophosphate Dehydrogenase 1 3
  • IMP Dehydrogenase 1 4
  • EC 1.1.1.205 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 (Inosine 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 Pyrimidine metabolism (KEGG) and Metabolism. Gene Ontology (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.

Tocris Summary for IMPDH1 Gene

Gene Wiki entry for IMPDH1 Gene

Additional gene information for IMPDH1 Gene

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

Genomics for IMPDH1 Gene

GeneHancer (GH) Regulatory Elements for IMPDH1 Gene

Promoters and enhancers for IMPDH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J128403 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 684.4 +3.1 3055 7.3 HDGF ARNT ZFP64 SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 E2F8 IMPDH1 PIR61424 ENSG00000273270 ENSG00000271553 ENSG00000242588 PRRT4 ENSG00000230715 LRRC4 RBM28 HILPDA
GH07J128410 Enhancer 0.5 ENCODE 650.7 -0.6 -641 0 LEF1 ARNT ZNF512 NRF1 ZBTB33 IMPDH1 GC07M128411 GC07M128410 ENSG00000242588 GC07M128414
GH07J128429 Enhancer 0.9 ENCODE 35.8 -22.8 -22843 6.9 ELF3 FOXA2 SIN3A RAD21 ZNF48 RARA ZSCAN5C SCRT2 FOS RCOR1 RPL37P16 IMPDH1 METTL2B ENSG00000242588 PRRT4 HILPDA ENSG00000240758 OPN1SW ENSG00000230715 ENSG00000272601
GH07J128236 Enhancer 1.4 FANTOM5 Ensembl ENCODE 20.1 +173.2 173175 1.6 PKNOX1 ATF1 FOXA2 ZNF766 FOS ATF7 CAVIN1 REST ZNF592 MEF2D LOC105375494 LRRC4 IMPDH1 RBM28 LEP ENSG00000224138 ENSG00000242588 ZNF800 ENSG00000243230 SND1
GH07J128341 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.3 +67.0 67011 2.6 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 RBM28 GC07P128370 RNU7-27P ZNF800 GCC1 ENSG00000243679 ENSG00000230715 ENSG00000243302 ENSG00000224138 ENSG00000242588
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IMPDH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IMPDH1 gene promoter:
  • USF1
  • USF-1
  • NRF-2
  • AP-1
  • c-Fos
  • c-Jun

Genomic Locations for IMPDH1 Gene

Genomic Locations for IMPDH1 Gene
chr7:128,392,277-128,410,252
(GRCh38/hg38)
Size:
17,976 bases
Orientation:
Minus strand
chr7:128,032,331-128,050,306
(GRCh37/hg19)
Size:
17,976 bases
Orientation:
Minus strand

Genomic View for IMPDH1 Gene

Genes around IMPDH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IMPDH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for IMPDH1 Gene

  • Ubiquitination at isoforms=2, 3, 4, 5, 6, 7242, isoforms=2, 3, 4, 5, 6, 7208, and Lys134
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IMPDH1 Gene

Domains & Families for IMPDH1 Gene

Gene Families for IMPDH1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P20839

UniProtKB/Swiss-Prot:

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

Function for IMPDH1 Gene

Molecular function for IMPDH1 Gene

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 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 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 Induction:
Constitutively expressed.
GENATLAS Biochemistry:
inosine 5-monophosphate dehydrogenase,type I,paralog to IMPDH2

Enzyme Numbers (IUBMB) for IMPDH1 Gene

Phenotypes From GWAS Catalog 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,IEA 14766016
GO:0003723 RNA binding IEA --
GO:0003824 catalytic activity IEA --
GO:0003938 IMP dehydrogenase activity IEA,IBA --
genes like me logo Genes that share ontologies with IMPDH1: view
genes like me logo Genes that share phenotypes with IMPDH1: view

Human Phenotype Ontology for IMPDH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IMPDH1 Gene

MGI Knock Outs for IMPDH1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IMPDH1

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IMPDH1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
lysosome 4
mitochondrion 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Rods & Rings (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IMPDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IEA,IDA 14766016
GO:0005737 cytoplasm IEA,IDA 14766016
GO:0005829 cytosol TAS,IDA --
GO:0034774 secretory granule lumen TAS --
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.

Gene Ontology (GO) - Biological Process for IMPDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0006177 GMP biosynthetic process IEA --
GO:0006183 GTP biosynthetic process IBA --
GO:0009168 purine ribonucleoside monophosphate biosynthetic process TAS --
GO:0043312 neutrophil degranulation TAS --
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

(18) Drugs for IMPDH1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mycophenolate mofetil Approved, Investigational Pharma inhibitor, Target IMPDH inhibitor 987
Mycophenolic acid Approved Pharma inhibitor, Target 987
Ribavirin Approved Pharma inhibitor, Target 1017
NADH Approved Nutra Target 0
Mercaptopurine Approved Pharma Target, inhibitor 0

(7) Additional Compounds for IMPDH1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
6-Thioinosine-5'-monophosphate
  • 9-(5-phospho-1-Ribofuranosyl)-6-mercaptopurine
  • 6-Thioinosine-5'-monophosphoric acid
  • 6-TIMP
  • 6-Mercaptopurine ribonucleoside 5'-monophosphate
  • 6-thio-IMP
6-Thioxanthine 5'-monophosphate
  • TXMP
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
Xanthylic acid
  • (9-D-Ribosylxanthine)-5'-phosphate
  • Xanthosine 5'-phosphate
  • Xanthosine monophosphate
  • XMP
  • (9-D-Ribosylxanthine)-5'-phosphoric acid
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IMPDH1

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for IMPDH1 Gene



Protein tissue co-expression partners for IMPDH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of IMPDH1 Gene:

IMPDH1

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.

Evidence on tissue expression from TISSUES for IMPDH1 Gene

  • Nervous system(4.8)
  • Blood(4.4)
  • Spleen(4.3)
  • Eye(2.3)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IMPDH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • olfactory bulb
  • outer ear
  • skull
Abdomen:
  • liver
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with IMPDH1: view

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
chimpanzee
(Pan troglodytes)
Mammalia IMPDH1 34 33
  • 99.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IMPDH1 34 33
  • 92.24 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Impdh1 16 34 33
  • 90.53 (n)
rat
(Rattus norvegicus)
Mammalia Impdh1 33
  • 90.31 (n)
oppossum
(Monodelphis domestica)
Mammalia IMPDH1 34
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IMPDH1 34 33
  • 87.44 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IMPDH1 34
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IMPDH1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia impdh1 33
  • 77.17 (n)
Str.6890 33
zebrafish
(Danio rerio)
Actinopterygii impdh1b 34
  • 86 (a)
OneToMany
impdh1a 34 33
  • 78.59 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta ras 34 35 33
  • 67.53 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011133 33
  • 67.39 (n)
worm
(Caenorhabditis elegans)
Secernentea T22D1.3 34 33
  • 56.91 (n)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER117W 33
  • 64.46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMD3 34
  • 61 (a)
ManyToMany
IMD4 34 33
  • 59.05 (n)
ManyToMany
IMD2 34
  • 59 (a)
ManyToMany
IMD1 34
  • 55 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B05511g 33
  • 59.39 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G79470 33
  • 52.29 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11932 33
rice
(Oryza sativa)
Liliopsida Os03g0780500 33
  • 58.14 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03117 33
  • 62.65 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gua1 33
  • 57.49 (n)
Species where no ortholog for IMPDH1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IMPDH1: view image

Paralogs for IMPDH1 Gene

Paralogs for IMPDH1 Gene

(3) SIMAP similar genes for IMPDH1 Gene using alignment to 8 proteins:

  • IMDH1_HUMAN
  • C9J029_HUMAN
  • C9J381_HUMAN
  • C9K0R9_HUMAN
  • E7EQS0_HUMAN
  • F8WDE9_HUMAN
  • H7C511_HUMAN
  • H7C5T1_HUMAN
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 Variation AA Info Type
rs1042267 uncertain-significance, Retinitis Pigmentosa, Dominant, Leber congenital amaurosis 128,392,776(-) G/A/C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057518949 likely-pathogenic, Retinitis pigmentosa 128,398,560(-) T/G coding_sequence_variant, missense_variant
rs11562030 benign, likely-benign, not specified, Retinitis Pigmentosa, Dominant, Leber congenital amaurosis 128,395,122(-) T/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs121912550 pathogenic, Retinitis pigmentosa 10, not provided 128,398,557(-) C/T coding_sequence_variant, missense_variant
rs121912551 pathogenic, Retinitis pigmentosa 10 128,398,431(-) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2493565 CNV deletion 19546169
nsv1122172 CNV deletion 24896259
nsv515737 CNV loss 19592680
nsv608400 CNV loss 21841781
nsv831124 CNV gain+loss 17160897
nsv949940 CNV deletion 24416366
nsv949941 CNV deletion 24416366
nsv981576 CNV duplication 23825009

Variation tolerance for IMPDH1 Gene

Residual Variation Intolerance Score: 30% 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)

Additional Variant Information for IMPDH1 Gene

Human Gene Mutation Database (HGMD)
IMPDH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IMPDH1

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

Disorders for IMPDH1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for IMPDH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for IMPDH1

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

No data available for Genatlas for IMPDH1 Gene

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 (Human molecular genetics 2002) 2 3 4 22 58
  2. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. (PMID: 11875050) Bowne SJ … Daiger SP (Human molecular genetics 2002) 2 3 4 22 58
  3. Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals. (PMID: 20045992) Kudo M … Hiratsuka M (Drug metabolism and pharmacokinetics 2009) 3 22 44 58
  4. 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 (Clinical pharmacology and therapeutics 2008) 3 22 25 58
  5. IMPDH1 gene polymorphisms and association with acute rejection in renal transplant patients. (PMID: 17851563) Wang J … Burckart GJ (Clinical pharmacology and therapeutics 2008) 3 22 25 58

Products for IMPDH1 Gene

Sources for IMPDH1 Gene