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IMPDH1 Gene

protein-coding   GIFtS: 70
GCID: GC07M128032

IMP (Inosine 5'-Monophosphate) Dehydrogenase 1

(Previous names: retinitis pigmentosa 10 (autosomal dominant), IMP (inosine...)
(Previous symbol: RP10)
  See IMPDH1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
IMP (Inosine 5'-Monophosphate) Dehydrogenase 11 2     IMPDH 12 3
RP101 2 5     EC 1.1.1.2053 8
IMP (Inosine Monophosphate) Dehydrogenase 11 2     LCA112 5
IMPD12 3     Retinitis Pigmentosa 10 (Autosomal Dominant)1
IMPDH-I2 3     IMPD2
IMP Dehydrogenase 12 3     Inosine-5'-Monophosphate Dehydrogenase 12
IMPD 12 3     sWSS26082

External Ids:    HGNC: 60521   Entrez Gene: 36142   Ensembl: ENSG000001063487   OMIM: 1466905   UniProtKB: P208393   

Export aliases for IMPDH1 gene to outside databases

Previous GC identifers: GC07M126509 GC07M127572 GC07M127586 GC07M127626 GC07M127819 GC07M122393


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 leber congenital amaurosis 11, and impdh1-related retinitis pigmentosa. GO annotations related to this gene include RNA binding and adenyl nucleotide binding. An important paralog of this gene is GMPR2.

UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839
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

Gene Wiki entry for IMPDH1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IMPDH1 gene promoter:
         c-Fos   USF1   AP-1   NRF-2   USF-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): IMPDH1 promoter sequence
   Search Chromatin IP Primers for IMPDH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IMPDH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31.3-q32   Ensembl cytogenetic band:  7q32.1   HGNC cytogenetic band: 7q31.3-q32

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M128032:  view genomic region     (about GC identifiers)

Start:
128,032,331 bp from pter      End:
128,050,306 bp from pter
Size:
17,976 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 127,415,442-127,433,147     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839 (See protein sequence)
Recommended Name: Inosine-5'-monophosphate dehydrogenase 1  
Size: 514 amino acids; 55406 Da
Cofactor: Potassium (By similarity)
Subunit: 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 IMPDH's
differ significantly from mammalian enzymes, which makes it a suitable target for anti-infective drugs
1 PDB 3D structure from and Proteopedia for IMPDH1:
1JCN (3D)    
Secondary accessions: A4D0Z6 A4D0Z7 A6NDW5 A6NNI6 B3KNP7 B3KVM8 B4DE09 C9JV30 J3KNX8 Q8N194
Q96NU2
Alternative splicing: 7 isoforms:  P20839-1   P20839-2   P20839-3   P20839-4   P20839-5   P20839-6   P20839-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IMPDH1: NX_P20839

Explore proteomics data for IMPDH1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys134, Lys208, Lys242
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for IMPDH1 (P20839) (see all 18)
     YRGMGSL  SKKGKLP  GLTYNDF  NDFLILPG 


    See IMPDH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_000874.2  NP_001096075.1  NP_001136045.1  NP_001136046.1  NP_001136047.1  NP_001136048.1  NP_899066.1  

    ENSEMBL proteins: 
     ENSP00000420756   ENSP00000418742   ENSP00000399400   ENSP00000345096   ENSP00000420803  
     ENSP00000346219   ENSP00000265385   ENSP00000417296   ENSP00000420185   ENSP00000419609  
     ENSP00000418592   ENSP00000420469   ENSP00000367989   ENSP00000342438  
    Reactome Protein details: P20839

    IMPDH1 Human Recombinant Protein Products:

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    OriGene Purified Proteins for IMPDH1
    OriGene Protein Over-expression Lysate for IMPDH1
    OriGene MassSpec for IMPDH1
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    Novus Biologicals IMPDH1 Proteins
    Novus Biologicals IMPDH1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for IMPDH1
    Cloud-Clone Corp. Proteins for IMPDH1

     
    Search eBioscience for Proteins for IMPDH1 

    IMPDH1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of IMPDH1
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    ThermoFisher Antibodies for IMPDH1
    LSBio Antibodies in human, mouse, rat for IMPDH1

    IMPDH1 Assay Products:

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    GenScript Custom Assay Services for IMPDH1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for IMPDH1
    Cloud-Clone Corp. CLIAs for IMPDH1
    Search eBioscience for ELISAs for IMPDH1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR013785 Aldolase_TIM
     IPR000644 CBS_dom
     IPR005990 IMP_DH
     IPR001093 IMP_DH_GMPRt
     IPR015875 IMP_DH/GMP_Rdtase_CS

    Graphical View of Domain Structure for InterPro Entry P20839

    ProtoNet protein and cluster: P20839

    2 Blocks protein domains:
    IPB000644 CBS domain
    IPB001093 IMP dehydrogenase/GMP reductase


    UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839
    Similarity: Belongs to the IMPDH/GMPR family
    Similarity: Contains 2 CBS domains


    Find genes that share domains with IMPDH1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IMDH1_HUMAN, P20839
    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
    Catalytic activity: Inosine 5'-phosphate + NAD(+) + H(2)O = xanthosine 5'-phosphate + NADH
    Enzyme regulation: 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
    Biophysicochemical properties: Kinetic parameters: KM=18 uM for Inosine 5'-phosphate; KM=46 uM for NAD(+);
    Induction: Constitutively expressed

         Genatlas biochemistry entry for IMPDH1:
    inosine 5'-monophosphate dehydrogenase,type I,paralog to IMPDH2

         Enzyme Number (IUBMB): EC 1.1.1.2051 2

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IDA14766016
    GO:0003677DNA binding IDA14766016
    GO:0003723RNA binding IEA--
    GO:0003824catalytic activity ----
    GO:0003938IMP dehydrogenase activity IEA--
         
    Find genes that share ontologies with IMPDH1           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Impdh1):
     cellular  hematopoietic system  immune system 

    Find genes that share phenotypes with IMPDH1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Impdh1tm1Bmi for IMPDH1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IMPDH1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IMPDH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IMPDH1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IMPDH1

    miRNA
    Products:
        
    miRTarBase miRNAs that target IMPDH1:
    hsa-let-7b-5p (MIRT032495), hsa-mir-1301-3p (MIRT036018), hsa-mir-19b-3p (MIRT031290), hsa-mir-34a-5p (MIRT025513), hsa-mir-29a-3p (MIRT003737), hsa-mir-1 (MIRT024021), hsa-mir-615-3p (MIRT040148), hsa-mir-98-5p (MIRT027855), hsa-mir-28-5p (MIRT049993), hsa-mir-29b-3p (MIRT027238)

    Block miRNA regulation of human, mouse, rat IMPDH1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IMPDH1 (see all 38):
    hsa-miR-1321 hsa-miR-29a hsa-miR-486-3p hsa-miR-301a hsa-miR-374c hsa-miR-1184 hsa-miR-3150b-3p hsa-miR-28-5p
    SwitchGear 3'UTR luciferase reporter plasmidIMPDH1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for IMPDH1
    Predesigned siRNA for gene silencing in human, mouse, rat IMPDH1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for IMPDH1 (see all 39)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): IMPDH1 (NM_001142573)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IMPDH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IMPDH1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for IMPDH1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMPDH1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IMDH1_HUMAN, P20839: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion2
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA14766016
    GO:0005737cytoplasm IDA14766016
    GO:0005829cytosol TAS--

    Find genes that share ontologies with IMPDH1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IMPDH1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (REACTOME)
    Purine metabolism0.42
    purine nucleotides degradation0.00
    Metabolism of nucleotides0.42
    urate biosynthesis/inosine 5-phosphate degradation0.00
    Purine ribonucleoside monophosphate biosynthesis0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3purine nucleotide salvage
    purine nucleotide salvage0.78
    guanosine nucleotides de novo biosynthesis0.00
    purine nucleotides de novo biosynthesis0.78
    guanosine ribonucleotides de novo biosynthesis0.00
    4Irinotecan Pathway, Pharmacokinetics
    Mycophenolic acid Pathway, Pharmacokinetics/Pharmacodynamics0.50
    5Purine metabolism (KEGG)
    Purine metabolism0.38


    Find genes that share SuperPaths with IMPDH1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for IMPDH1 (see all 7)
        purine nucleotides de novo biosynthesis
    Nucleotide Metabolism
    guanosine nucleotides de novo biosynthesis
    purine nucleotide salvage
    urate biosynthesis/inosine 5-phosphate degradation

    1 Reactome Pathway for IMPDH1
        Purine ribonucleoside monophosphate biosynthesis

    2 PharmGKB Pathways for IMPDH1
        Mycophenolic acid Pathway, Pharmacokinetics/Pharmacodynamics
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    3 Kegg Pathways  (Kegg details for IMPDH1):
        Purine metabolism
    Drug metabolism - other enzymes
    Metabolic pathways

    UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839
    Pathway: Purine metabolism; XMP biosynthesis via de novo pathway; XMP from IMP: step 1/1

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IMPDH1
    Interactions:

        Search GeneGlobe Interaction Network for IMPDH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for IMPDH1 (ENSP000003450964) via UniProtKB, MINT, STRING, and/or I2D (see all 142)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADSSENSP000003554934STRING: ENSP00000355493
    ADSSL1ENSP000003330194STRING: ENSP00000333019
    GMPSENSP000004198514STRING: ENSP00000419851
    HPRT1ENSP000002985564STRING: ENSP00000298556
    NT5EENSP000002577704STRING: ENSP00000257770
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006164purine nucleotide biosynthetic process ----
    GO:0006177GMP biosynthetic process IEA--
    GO:0009168purine ribonucleoside monophosphate biosynthetic process TAS--
    GO:0009409response to cold ----

    Find genes that share ontologies with IMPDH1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IMPDH1 (IMDH1)

    6 HMDB Compounds for IMPDH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Inosinic acid5'-IMP (see all 9)131-99-7--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    PotassiumK+ (see all 16)7440-09-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    Xanthylic acid(9-D-ribosylxanthine)-5'-phosphate (see all 7)523-98-8--

    5 DrugBank Compounds for IMPDH1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Mycophenolate mofetilMMF (see all 4)128794-94-5targetinhibitor17139284 17463174 11752352 17016423 17851563 17713475
    RibavirinRBV (see all 4)36791-04-5targetinhibitor16293677 16421290 16152757 11752352
    NADHbeta-DPNH (see all 18)606-68-8target--16384941 17139284 17016423
    6-Chloropurine Riboside, 5'-Monophosphate-- --target--17139284 17016423
    Mycophenolic acid-- 24280-93-1targetinhibitor16629948

    6 Novoseek inferred chemical compound relationships for IMPDH1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inosine monophosphate 94 46 18295591 (2), 17960124 (2), 11875050 (2), 17851563 (1) (see all 24)
    mycophenolic acid 74.2 15 17851563 (3), 19635156 (3), 8632430 (2)
    nicotinamide 41.4 1 8632430 (1)
    gtp 32.2 4 14981049 (2), 9436988 (1)
    nad+ 30.7 2 8632430 (1)
    atp 0 1 9436988 (1)

    1 PharmGKB related drug/compound annotation for IMPDH1 gene    About this table
    Drug/compound PharmGKB Annotation
    mycophenolate mofetilCA  



    Find genes that share compounds with IMPDH1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IMPDH1 gene (7 alternative transcripts): 
    NM_000883.3  NM_001102605.1  NM_001142573.1  NM_001142574.1  NM_001142575.1  NM_001142576.1  NM_183243.2  

    Unigene Cluster for IMPDH1:

    IMP (inosine 5'-monophosphate) dehydrogenase 1
    Hs.654401  [show with all ESTs]
    Unigene Representative Sequence: J05272
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469328 ENST00000484496 ENST00000419067 ENST00000338791(uc003vmu.2 uc003vmx.2 uc003vmy.2 uc011kon.1 uc003vmv.2)
    ENST00000496200(uc011kol.1 uc011kom.1 uc003vmt.2) ENST00000354269(uc003vmw.2)
    ENST00000348127 ENST00000470772 ENST00000480861 ENST00000460045 ENST00000497868
    ENST00000468842 ENST00000489263 ENST00000496487 ENST00000491376 ENST00000473463
    ENST00000378717 ENST00000343214
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate IMPDH1 (see all 38):
    hsa-miR-1321 hsa-miR-29a hsa-miR-486-3p hsa-miR-301a hsa-miR-374c hsa-miR-1184 hsa-miR-3150b-3p hsa-miR-28-5p
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    GenScript: all cDNA clones in your preferred vector (see all 7): IMPDH1 (NM_001142573)
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    Additional mRNA sequence: 

    AK054640.1 AK054667.1 AK092452.1 AK122994.1 AK131294.1 AK293413.1 AK297943.1 BC033622.1 
    CR933672.1 J05272.1 

    16 DOTS entries:

    DT.100798716  DT.100798708  DT.100798711  DT.95139757  DT.100798714  DT.121043210  DT.310934  DT.100798718 
    DT.101983826  DT.92058507  DT.97772614  DT.92057587  DT.100798717  DT.121043186  DT.97764247  DT.100798710 

    Selected AceView cDNA sequences (see all 177):

    CR625154 BE671418 BU557046 BU158880 BM561822 BM799070 AK054667 BM720434 
    BP381389 BF724623 NM_183243 BU849948 BM013617 BM824513 BU543855 BU726944 
    CB156650 CD014008 CR603937 BQ001741 CB131455 BM790439 AI092933 BQ933070 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IMPDH1 (see all 16)    About this scheme

    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:                                -           -     -                                   -                 -                                         -         

    ExUns: 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for IMPDH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    IMPDH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCGCCTGCC
    IMPDH1 Expression
    About this image

    IMPDH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IMPDH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654401

    UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839
    Tissue specificity: IMP type I is the main species in normal leukocytes and type II predominates over type I in
    the tumor

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IMPDH1 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Impdh11 , 5 inosine 5'-phosphate dehydrogenase 11, 5 90.53(n)1
    98.05(a)1
      6 (12.36 cM)5
    239171  NM_011829.21  NP_035959.21 
     292004345 
    lizard
    (Anolis carolinensis)
    Reptilia IMPDH16
    IMP (inosine 5'-monophosphate) dehydrogenase 1
    82(a)
    1 ↔ 1
    GL343799.1(157169-194792)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046868.12   -- 77.8(n)    BC046868.1 
    zebrafish
    (Danio rerio)
    Actinopterygii impdh1a1 inosine 5'-phosphate dehydrogenase 1a 78.59(n)
    91.36(a)
      431724  NM_001002177.1  NP_001002177.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ras1 , 3 GMP biosynthesis IMP dehydrogenase3
    raspberry1
    68(a)3
    67.53(n)1
    70.32(a)1
      9E23
    438731  NM_001272498.11  NP_001259427.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T22D1.31 T22D1.3 56.91(n)
    59.12(a)
      177457  NM_001028224.3  NP_001023395.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YAR075W)4
    IMD41
    Non-functional protein with homology IMP dehydrogenase; more4
    IMD41
    59.05(n)1
    63.93(a)1
      1(228844-229317)4
    8549481  NP_013656.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G794701 AT1G79470 52.29(n)
    47.77(a)
      844285  NM_106595.3  NP_178065.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g07805001 Os03g0780500 58.14(n)
    60.27(a)
      4334308  NM_001057985.1  NP_001051450.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IMPDH1 gene
    GMPR22  GMPR2  IMPDH22  
    3 SIMAP similar genes for IMPDH1 using alignment to 8 protein entries:     IMDH1_HUMAN (see all proteins):
    DKFZp781N0678    IMPDH2    GMPR2

    Find genes that share paralogs with IMPDH1           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for IMPDH1 (see all 10)
    PGOHUM00000238546 PGOHUM00000248981 PGOHUM00000240456 PGOHUM00000237952 PGOHUM00000243070


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IMPDH1 (see all 476)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0170324
    Retinitis pigmentosa 10 (RP10)4--see VAR_0170322 D N mis40--------
    VAR_0656184
    Leber congenital amaurosis 11 (LCA11)4--see VAR_0656182 N K mis40--------
    VAR_0656164
    Leber congenital amaurosis 11 (LCA11)4--see VAR_0656162 R W mis40--------
    VAR_0170314
    Retinitis pigmentosa 10 (RP10)4--see VAR_0170312 R P mis40--------
    VAR_0656214
    Retinitis pigmentosa 10 (RP10)4--see VAR_0656212 H P mis40--------
    VAR_0170334
    Retinitis pigmentosa 10 (RP10)4--see VAR_0170332 V I mis40--------
    VAR_0656174
    Retinitis pigmentosa 10 (RP10)4--see VAR_0656172 T M mis40--------
    rs1219125531,2
    Cpathogenic1127423993(-) AGGTGC/TGGAAG 12 R W int1 mis10--------
    rs1156796561,2
    F--127414966(+) CCCACG/CTGACA 7 -- int11Minor allele frequency- C:0.02WA 118
    rs749179111,2
    C,F--127414979(+) ACTGTC/GTCCAC 7 -- int11Minor allele frequency- G:0.02WA 118

    HapMap Linkage Disequilibrium report for IMPDH1 (128032331 - 128050306 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for IMPDH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2493565CNV Deletion19546169
    nsv515737CNV Loss19592680
    nsv889191CNV Loss21882294
    nsv831124CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): IMPDH1
    Locus Specific Mutation Databases (LSDB): IMPDH1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 146690   
    OMIM disorders: 180105  613837  
    UniProtKB/Swiss-Prot: IMDH1_HUMAN, P20839
  • 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. 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 8 diseases for IMPDH1:    
    About MalaCards
    leber congenital amaurosis 11    impdh1-related retinitis pigmentosa    impdh1-related leber congenital amaurosis    retinitis pigmentosa 10
    leber congenital amaurosis 17    leber congenital amaurosis    retinitis    retinitis pigmentosa

    1 disease from the University of Copenhagen DISEASES database for IMPDH1:
    Retinitis pigmentosa

    Find genes that share disorders with IMPDH1           About GenesLikeMe

    4 Novoseek inferred disease relationships for IMPDH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 88.2 36 16038673 (2), 16214101 (2), 18552984 (2), 18385099 (2) (see all 17)
    lebers congenital amaurosis 83.2 4 16384941 (2), 16936083 (1), 17960124 (1)
    retinal degeneration 79.2 6 16384941 (2), 17488458 (1)
    retinopathy 62.9 7 16936083 (1), 17960124 (1), 14981049 (1), 18385099 (1)

    GeneTests: IMPDH1
    GeneReviews: IMPDH1
    Genetic Association Database (GAD): IMPDH1
    Human Genome Epidemiology (HuGE) Navigator: IMPDH1 (14 documents)

    Export disorders for IMPDH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IMPDH1 gene, integrated from 10 sources (see all 87):
    (articles sorted by number of sources associating them with IMPDH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis. (PubMed id 16384941)1, 2, 7, 9 Bowne S.J.... Daiger S.P. (Invest. Ophthalmol. Vis. Sci. 2006)
    2. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. (PubMed id 11875050)1, 2, 3, 9 Bowne S.J.... Daiger S.P. (Hum. Mol. Genet. 2002)
    3. 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. (PubMed id 11875049)1, 2, 3, 9 Kennan A.... Humphries P. (Hum. Mol. Genet. 2002)
    4. Two distinct cDNAs for human IMP dehydrogenase. (PubMed id 1969416)1, 2, 3 Natsumeda Y.... Suzuki K. (J. Biol. Chem. 1990)
    5. IMPDH1 gene polymorphisms and association with acute rejection in renal transplant patients. (PubMed id 17851563)1, 7, 9 Wang J....Burckart G.J. (Clin. Pharmacol. Ther. 2008)
    6. Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa. (PubMed id 16038673)1, 4, 9 Wada Y....Tamai M. (Am. J. Ophthalmol. 2005)
    7. Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals. (PubMed id 20045992)1, 4, 9 Kudo M....Hiratsuka M. (Drug Metab. Pharmacokinet. 2009)
    8. Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. (PubMed id 18552984)1, 4, 9 Gandra M.... Govindasamy K. (Mol. Vis. 2008)
    9. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. (PubMed id 15851576)1, 4, 9 Wada Y....Dryja T.P. (amp 2005)
    10. Expression of inosine monophosphate dehydrogenase type I and type II after mycophenolate mofetil treatment: a 2-year follow-up in kidney transplantation. (PubMed id 17713475)1, 7, 9 Sanquer S....Lang P. (Clin. Pharmacol. Ther. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3614 HGNC: 6052 AceView: IMPDH1 Ensembl:ENSG00000106348 euGenes: HUgn3614
    ECgene: IMPDH1 Kegg: 3614 H-InvDB: IMPDH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IMPDH1 Pharmacogenomics, SNPs, Pathways
    Mutations of the IMPDH1 genehttp://www.retina-international.org/files/sci-news/impdhmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=IMPDH1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IMPDH1 gene:
    Search GeneIP for patents involving IMPDH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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