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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IDH1 Gene

protein-coding   GIFtS: 74
GCID: GC02M209100

Isocitrate Dehydrogenase 1 (NADP+), Soluble

  See 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)
About This Section

Aliases
Isocitrate Dehydrogenase 1 (NADP+), Soluble1 2     IDCD2
Oxalosuccinate Decarboxylase2 3     IDPC2
IDH2 3     Isocitrate Dehydrogenase [NADP] Cytoplasmic2
IDP2 3     NADP-Dependent Isocitrate Dehydrogenase, Cytosolic2
PICD2 3     NADP-Dependent Isocitrate Dehydrogenase, Peroxisomal2
NADP(+)-Specific ICDH2 3     Cytosolic NADP-Isocitrate Dehydrogenase3
EC 1.1.1.423 8     

External Ids:    HGNC: 53821   Entrez Gene: 34172   Ensembl: ENSG000001384137   OMIM: 1477005   UniProtKB: O758743   

Export aliases for IDH1 gene to outside databases

Previous GC identifers: GC02M207376 GC02M207825 GC02M209064 GC02M209303 GC02M208926 GC02M208809 GC02M200949


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IDH1 Gene:
Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes
belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+).
Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which
localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is
mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein
encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It
contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests
roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs
to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation
of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively
spliced transcript variants encoding the same protein have been found for this gene. (provided by RefSeq, Sep
2013)

GeneCards Summary for IDH1 Gene: 
IDH1 (isocitrate dehydrogenase 1 (NADP+), soluble) is a protein-coding gene. Diseases associated with IDH1 include diffuse astrocytoma, and spindle cell hemangioma, and among its related super-pathways are Metabolic pathways and Glutathione metabolism. GO annotations related to this gene include magnesium ion binding and protein homodimerization activity. An important paralog of this gene is IDH2.

Gene Wiki entry for IDH1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IDH1 gene promoter:
         STAT5B   Pax-5   HOXA3   MIF-1   Evi-1   C/EBPalpha   GATA-1   CHOP-10   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): IDH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for IDH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IDH1


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

Entrez Gene cytogenetic band: 2q33.3   Ensembl cytogenetic band:  2q34   HGNC cytogenetic band: 2q34

IDH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IDH1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M209100:  view genomic region     (about GC identifiers)

Start:
209,100,951 bp from pter      End:
209,130,798 bp from pter
Size:
29,848 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IDHC_HUMAN, O75874 (See protein sequence)
Recommended Name: Isocitrate dehydrogenase [NADP] cytoplasmic  
Size: 414 amino acids; 46659 Da
Cofactor: Binds 1 magnesium or manganese ion per subunit
Subunit: Homodimer
Subcellular location: Cytoplasm. Peroxisome
6/8 PDB 3D structures from and Proteopedia for IDH1 (see all 8):
1T09 (3D)        1T0L (3D)        3INM (3D)        3MAP (3D)        3MAR (3D)        3MAS (3D)    
Secondary accessions: Q7Z3V0 Q93090 Q9NTJ9 Q9UKW8

Explore the universe of human proteins at neXtProt for IDH1: NX_O75874

Explore proteomics data for IDH1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75874

  • 4/19 DME Specific Peptides for IDH1 (O75874) (see all 19)
     EAAHGTV  IASIFAW  HGTVTRH  GDQYRAT 

    IDH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IDH1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001269315.1  NP_001269316.1  NP_005887.2  

    ENSEMBL proteins: 
     ENSP00000260985   ENSP00000410513   ENSP00000390265   ENSP00000391075   ENSP00000409045  
     ENSP00000396787  
    Reactome Protein details: O75874
    Human Recombinant Protein Products for IDH1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals IDH1 Proteins
    Sino Biological Recombinant Protein for IDH1
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for IDH1
    Cloud-Clone Corp. Proteins for IDH1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA10521434
    GO:0005782peroxisomal matrix TAS--
    GO:0005829cytosol TAS--

    IDH1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR004790 Isocitrate_DH_NADP
     IPR019818 IsoCit/isopropylmalate_DH_CS
     IPR024084 IsoPropMal-DH-like_dom

    Graphical View of Domain Structure for InterPro Entry O75874

    ProtoNet protein and cluster: O75874

    1 Blocks protein domain: IPB001804 Isocitrate/isopropylmalate dehydrogenase

    UniProtKB/Swiss-Prot: IDHC_HUMAN, O75874
    Similarity: Belongs to the isocitrate and isopropylmalate dehydrogenases family


    IDH1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IDHC_HUMAN, O75874
    Catalytic activity: Isocitrate + NADP(+) = 2-oxoglutarate + CO(2) + NADPH
    Biophysicochemical properties: Kinetic parameters: KM=49 uM for NADP; KM=29 uM for magnesium chloride; KM=65 uM
    for isocitrate;

         Genatlas biochemistry entry for IDH1:
    isocitrate dehydrogenase 1,cytosolic,NADPH dependent,third step of citric acid cycle

         Enzyme Number (IUBMB): EC 1.1.1.421 2

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA19935646
    GO:0004450isocitrate dehydrogenase (NADP+) activity IDA10521434
    GO:0005102receptor binding IPI--
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0042803protein homodimerization activity IPI19935646
         
    IDH1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IDH1:
     Decreased p24 protein expressi 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Idh1):
     hematopoietic system  homeostasis/metabolism  immune system 

    IDH1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for IDH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for IDH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IDH1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IDH1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target IDH1:
    hsa-mir-30a (MIRT005125)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IDH1
    8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate IDH1 (see all 31):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-137 hsa-miR-4318 hsa-miR-520d-5p hsa-miR-25 hsa-miR-30d hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidIDH1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IDH1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for IDH1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Glutathione metabolism
    Glutathione metabolism0.67
    Glutathione metabolism0.45
    3NADPH regeneration
    Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate1.00
    NADPH regeneration1.00
    4Carbon metabolism
    Carbon metabolism0.37
    Biosynthesis of amino acids0.37
    5Citric acid cycle (TCA cycle)
    Citrate cycle (TCA cycle)0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for IDH1
        Glucose / Energy Metabolism

    1 BioSystems Pathway for IDH1
        Glutathione metabolism


    5/6        Reactome Pathways for IDH1 (see all 6)
        NADPH regeneration
    Metabolism
    Peroxisomal lipid metabolism
    Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate
    Disease


    5/7         Kegg Pathways  (Kegg details for IDH1) (see all 7):
        Citrate cycle (TCA cycle)
    Glutathione metabolism
    Metabolic pathways
    Carbon metabolism
    2-Oxocarboxylic acid metabolism


    IDH1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IDH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/61 Interacting proteins for IDH1 (O758742, 3 ENSP000002609854) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZHX1Q9UKY13, ENSP000002978574I2D: score=5 STRING: ENSP00000297857
    ASLP044243, ENSP000003071884I2D: score=1 STRING: ENSP00000307188
    FHP079543, ENSP000003555184I2D: score=1 STRING: ENSP00000355518
    IDH3GP515533, ENSP000002179014I2D: score=1 STRING: ENSP00000217901
    SUMO4Q6EEV63, ENSP000003186354I2D: score=1 STRING: ENSP00000318635
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006097glyoxylate cycle IEA--
    GO:0006099tricarboxylic acid cycle IEA--
    GO:0006102isocitrate metabolic process IDA10521434
    GO:00061032-oxoglutarate metabolic process TAS--
    GO:0006740NADPH regeneration TAS--

    IDH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IDH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IDH1 (IDHC)

    8 HMDB Compounds for IDH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Isocitric acid1-Hydroxy-1,2,3-propanetricarboxylate (see all 15)320-77-4--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Oxalosuccinic acidOxalosuccinate (see all 2)1948-82-9--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--

    2 DrugBank Compounds for IDH1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423
    Isocitric Acid-- 320-77-4target--17139284 17016423

    10/14 Novoseek inferred chemical compound relationships for IDH1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    isocitrate 96.2 105 11284679 (2), 19935646 (2), 20142433 (2), 19636000 (2) (see all 55)
    2-hydroxyglutarate 87.9 14 20171147 (4), 20127344 (1), 19935646 (1), 20142433 (1) (see all 5)
    alpha-ketoglutarate 75.4 17 10521434 (2), 19935646 (2), 11912232 (1), 19359588 (1) (see all 8)
    nadp+ 62.1 6 9512021 (3), 10521434 (1), 17029707 (1)
    glucose 6-phosphate 51.9 5 10521434 (1), 16143603 (1), 8660340 (1), 12232660 (1)
    nadph 46.4 28 20127344 (5), 9512021 (3), 10521434 (2), 8987537 (1) (see all 6)
    malate 46.4 1 8959151 (1)
    nicotinamide 33.2 1 9220992 (1)
    glyceraldehyde 3-phosphate 24.4 2 8660340 (1), 15355353 (1)
    adenine 19.5 1 9211842 (1)

    Search CenterWatch for drugs/clinical trials and news about IDH1 / IDHC

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IDH1 gene (3 alternative transcripts): 
    NM_001282386.1  NM_001282387.1  NM_005896.3  

    Unigene Cluster for IDH1:

    Isocitrate dehydrogenase 1 (NADP+), soluble
    Hs.593422  [show with all ESTs]
    Unigene Representative Sequence: AF020038
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000345146(uc002vcu.3) ENST00000446179(uc002vct.3) ENST00000415913(uc002vcs.3)
    ENST00000484575 ENST00000415282 ENST00000462386 ENST00000417583 ENST00000451391
    ENST00000481557
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    Additional mRNA sequence: 

    AF020038.1 AF113917.1 AK125247.1 AK302105.1 AK312242.1 AL136702.1 BC012846.1 BC021046.1 
    BC093020.1 BX537411.1 CR533522.1 CR536499.1 CR541695.1 U62389.1 

    24/31 DOTS entries (see all 31):

    DT.100845600  DT.91776646  DT.219513  DT.120999209  DT.100766638  DT.120999216  DT.95162526  DT.437002 
    DT.100845598  DT.120999211  DT.99944670  DT.91776651  DT.95162531  DT.91698485  DT.100735322  DT.102830286 
    DT.95075652  DT.120999132  DT.120999133  DT.120999159  DT.95162499  DT.95162529  DT.97809111  DT.107236 

    24/528 AceView cDNA sequences (see all 528):

    BM820158 BG716785 BQ690488 BF445518 BG388983 AI368561 AA313574 CB156132 
    BQ432452 CR622041 BC012846 BQ649977 BQ432343 CR541695 CB130734 AU125661 
    AA886789 BU175578 BQ217274 BX417974 BI092092 CB215509 AA327670 CB131590 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for IDH1 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13
    SP1:                                                                    -                                                                     
    SP2:                                -     -                             -                                                                     
    SP3:                                                                                                        -     -                           
    SP4:        -     -                 -     -                                                                                                   
    SP5:                                -     -                                                                                                   


    ECgene alternative splicing isoforms for IDH1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IDH1 expression in normal human tissues (normalized intensities)      IDH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGGAACGA
    IDH1 Expression
    About this image


    IDH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             ganglion/cranial/vagus X   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 5 entries
             autonomic/sympathetic/ganglion   
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Membranous Facial Bones
             sensory organ/ear/inner ear   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See IDH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IDH1

    SOURCE GeneReport for Unigene cluster: Hs.593422
        SABiosciences Expression via Pathway-Focused PCR Arrays including IDH1: 
              Nephrotoxicity in human mouse rat
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IDH1

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IDH1 gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Idh11 , 5 isocitrate dehydrogenase 1 (NADP+), soluble1, 5 90.42(n)1
    95.65(a)1
      1 (32.91 cM)5
    159261  NM_001111320.11  NP_001104790.11 
     651586165 
    chicken
    (Gallus gallus)
    Aves IDH11 isocitrate dehydrogenase 1 (NADP+), soluble 80(n)
    90(a)
      424112  XM_421965.3  XP_421965.2 
    lizard
    (Anolis carolinensis)
    Reptilia IDH16
    Isocitrate dehydrogenase [NADP]
    88(a)
    1 ↔ 1
    4(90485783-90514624)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.170632 Transcribed sequence with moderate similarity to protein more 81.22(n)    BX708884.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc663182 Danio rerio mRNA similar to isocitrate dehydrogenase more 76.82(n)    BC046894.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Idh1 Isocitrate dehydrogenase 67.56(n)
    72.62(a)
      44291  NM_143787.2  NP_652044.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F59B8.23
    idh-11
    isocitrate dehydrogenase3
    Protein IDH-11
    74(a)
    (best of 2)3
    67.24(n)1
    76.17(a)1
      IV(9439443-9440945)3
    1777751  NM_069264.41  NP_501665.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IDP1(YDL066W)4
    IDP21
    Mitochondrial NADP-specific isocitrate dehydrogenase, more4
    Idp2p1
    60.1(n)1
    61.31(a)1
      4(334835-336121)4
    8508711  NP_013275.11  8514934 
     NP_010217.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons cICDH1 isocitrate dehydrogenase 63.48(n)
    68.26(a)
      842905  NM_105265.4  NP_176768.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g06545001 hypothetical protein 64.16(n)
    68.92(a)
      4324176  NM_001050284.1  NP_001043749.1 


    ENSEMBL Gene Tree for IDH1 (if available)
    TreeFam Gene Tree for IDH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IDH1 gene
    IDH22  
    1 SIMAP similar gene for IDH1 using alignment to 10 protein entries:     IDHC_HUMAN (see all proteins):
    IDH2

    IDH1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for IDH1
    PGOHUM00000243057


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/434 SNPs in IDH1 are shown (see all 434)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0554544
    A glioma sample4--see VAR_0554542 R G mis40--------
    VAR_0554574
    A glioma sample4--see VAR_0554572 R S mis40--------
    VAR_0554564
    A glioma sample4--see VAR_0554562 R L mis40--------
    VAR_0554554
    A glioma sample4--see VAR_0554552 R H mis40--------
    VAR_0360134
    Colorectal cancer4--see VAR_0360132 R C mis40--------
    rs1219134991,2
    Cuntested1208501331(-) TAGGTA/C/TGTCAT 3 S R C mis10--------
    rs1880156211,2
    --208488779(+) GTCTCA/GAACTC 1 -- ds50010--------
    rs118884631,2
    C,F,H--208488831(+) ATCCAT/CTTTTT 1 -- ds50015Minor allele frequency- C:0.03NA WA 264
    rs1483558101,2
    --208488887(+) AAGTCC/TCTTAT 1 -- ds50010--------
    rs45054621,2
    H--208488977(+) ATTCTC/ATAATA 1 -- ds50014Minor allele frequency- A:0.00NS EA 420

    HapMap Linkage Disequilibrium report for IDH1 (209100951 - 209130798 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for IDH1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv525747CNV Loss19592680
    nsv834517CNV Loss17160897
    nsv875751CNV Gain21882294


    Human Gene Mutation Database (HGMD): IDH1
    5 SABiosciences Cancer Mutation PCR Assays for IDH1:
    Cosmic IdAA Change
    28747p.R132C
    28748p.R132S
    28746p.R132H
    28749p.R132G
    28750p.R132L
    5/8 SABiosciences Cancer Mutation PCR Arrays containing IDH1 (see all 8):
    Hematopoietic Neoplasms
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    Myelodysplastic Syndromes
    Brain Cancers
    SeqTarget long-range PCR primers for resequencing IDH1
    DNA2.0 Custom Variant and Variant Library Synthesis for IDH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 147700    OMIM disorders: --

    UniProtKB/Swiss-Prot: IDHC_HUMAN, O75874
  • Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from
    glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes,
    oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Note=The gene
    represented in this entry is involved in disease pathogenesis. Mutations affecting Arg-132 are tissue-specific,
    and suggest that this residue plays a unique role in the development of high-grade gliomas. Mutations of Arg-132
    to Cys, His, Leu or Ser abolish magnesium binding and abolish the conversion of isocitrate to
    alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate. Elevated levels of
    R(-)-2-hydroxyglutarate are correlated with an elevated risk of malignant brain tumors

  • 20/62 diseases for IDH1 (see all 62):    About MalaCards
    diffuse astrocytoma    spindle cell hemangioma    metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria    periosteal chondrosarcoma
    angiocentric glioma    enchondroma    gliomatosis cerebri    supratentorial primitive neuroectodermal tumor
    ollier disease    d-2-hydroxyglutaric aciduria    periostitis    oligoastrocytoma
    2-hydroxyglutaric aciduria    chondroma    pilocytic astrocytoma    astrocytoma
    li-fraumeni syndrome    dysembryoplastic neuroepithelial tumor    oligodendroglioma    sertoli cell-only syndrome

    6 diseases from the University of Copenhagen DISEASES database for IDH1:
    Malignant glioma     Intraductal papilloma     Leukemia     D-2-hydroxyglutaric aciduria
    Brain cancer     Interval angle-closure glaucoma

    IDH1 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for IDH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligodendroglioma 76.8 14 19246647 (3), 18985363 (2), 19554337 (2), 19915484 (1) (see all 8)
    glioma 73.1 66 20077503 (6), 19765000 (6), 19636000 (5), 20131059 (4) (see all 21)
    glioblastoma 69.9 49 20127344 (8), 18985363 (4), 19246647 (3), 19765000 (3) (see all 10)
    astrocytoma 61.2 12 19246647 (3), 18985363 (2), 19554337 (2), 19915484 (1) (see all 7)
    pilocytic astrocytoma 59.6 1 18985363 (1), 19667985 (1)
    somatic mutations 43.5 4 20127344 (1), 19554337 (1), 19228619 (1), 19117336 (1) (see all 5)
    tumors 10.2 26 19228619 (4), 19359588 (4), 19554337 (2), 19117336 (2) (see all 12)
    cancer 0 2 20129244 (1), 20368543 (1)

    Genetic Association Database (GAD): IDH1
    Human Genome Epidemiology (HuGE) Navigator: IDH1 (55 documents)

    Export disorders for IDH1 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)
    About This Section

    PubMed articles for IDH1 gene, integrated from 9 sources (see all 328):
    (articles sorted by number of sources associating them with IDH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of IDH1 and IDH2 mutations in Japanese gliom a patients. (PubMed id 19765000)1, 4, 9 Sonoda Y....Tominaga T. (2009)
    2. IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas. (PubMed id 19246647)1, 4, 9 Watanabe T....Ohgaki H. (2009)
    3. The human PICD gene encodes a cytoplasmic and peroxisomal NADP(+)- dependent isocitrate dehydrogenase. (PubMed id 10521434)1, 2, 9 Geisbrecht B.V. and Gould S.J. (1999)
    4. Isocitrate dehydrogenase 1 codon 132 mutation is an i mportant prognostic biomarker in gliomas. (PubMed id 19636000)1, 4, 9 Sanson M....Delattre J.Y. (2009)
    5. Distinct clinical and biologic characteristics in adu lt acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation. (PubMed id 20097881)1, 4, 9 Chou W.C....Tien H.F. (2010)
    6. Rapid and sensitive assessment of the IDH1 and IDH2 m utation status in cerebral gliomas based on DNA pyrosequencing. (PubMed id 20131059)1, 4, 9 Felsberg J....Reifenberger G. (2010)
    7. Type and frequency of IDH1 and IDH2 mutations are rel ated to astrocytic and oligodendroglial differentiation and age: a study of 1,0 10 diffuse gliomas. (PubMed id 19554337)1, 4, 9 Hartmann C....von Deimling A. (2009)
    8. IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (PubMed id 19117336)1, 2, 9 Bleeker F.E....Bardelli A. (2009)
    9. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. (PubMed id 19935646)1, 2, 9 Dang L....Su S.M. (2009)
    10. Molecular predictors of progression-free and overall survival in patients with newly diagnosed glioblastoma: a prospective translati onal study of the German Glioma Network. (PubMed id 19805672)1, 4, 9 Weller M....Loeffler M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3417 HGNC: 5382 AceView: IDH1 Ensembl:ENSG00000138413 euGenes: HUgn3417
    ECgene: IDH1 Kegg: 3417 H-InvDB: IDH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IDH1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Isocitrate_dehydrogenase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IDH1 gene:
    Search GeneIP for patents involving IDH1

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



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    About This Section

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