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    IDH1 isocitrate dehydrogenase (NADP(+)) 1, cytosolic [ Homo sapiens (human) ]

    Gene ID: 3417, updated on 29-Apr-2016
    Official Symbol
    IDH1provided by HGNC
    Official Full Name
    isocitrate dehydrogenase (NADP(+)) 1, cytosolicprovided by HGNC
    Primary source
    HGNC:HGNC:5382
    See related
    Ensembl:ENSG00000138413 HPRD:00984; MIM:147700; Vega:OTTHUMG00000132943
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IDH; IDP; IDCD; IDPC; PICD; HEL-216; HEL-S-26
    Summary
    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]
    Orthologs
    Location:
    2q33.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (208236227..208255143, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (209100951..209120478, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein SA pseudogene 27 Neighboring gene tumor protein, translationally-controlled 1 pseudogene 2 Neighboring gene IDH1 antisense RNA 1 Neighboring gene phosphoinositide kinase, FYVE-type zinc finger containing Neighboring gene myosin light chain 6B pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of isocitrate dehydrogenase 1 (NADP+), soluble (IDH1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed
    Knockdown of isocitrate dehydrogenase 1 (NADP+), soluble (IDH1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    • 2-Oxocarboxylic acid metabolism, organism-specific biosystem (from KEGG)
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    • 2-Oxocarboxylic acid metabolism, conserved biosystem (from KEGG)
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    • Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate, organism-specific biosystem (from REACTOME)
      Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate, organism-specific biosystemSomatic mutations affecting arginine residue 132 of IDH1 (isocitrate dehydrogenase 1, a cytosolic enzyme that normally catalyzes the NADP+-dependent conversion of isocitrate to 2-oxoglutarate), are v...
    • Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
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    • Biosynthesis of amino acids, conserved biosystem (from KEGG)
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    • Carbon metabolism, organism-specific biosystem (from KEGG)
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    • Carbon metabolism, conserved biosystem (from KEGG)
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    • Central carbon metabolism in cancer, organism-specific biosystem (from KEGG)
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    • Central carbon metabolism in cancer, conserved biosystem (from KEGG)
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    • Citrate cycle (TCA cycle), organism-specific biosystem (from KEGG)
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    • Citrate cycle (TCA cycle), conserved biosystem (from KEGG)
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    • Citrate cycle (TCA cycle, Krebs cycle), organism-specific biosystem (from KEGG)
      Citrate cycle (TCA cycle, Krebs cycle), organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
    • Citrate cycle (TCA cycle, Krebs cycle), conserved biosystem (from KEGG)
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    • Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarate, organism-specific biosystem (from KEGG)
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    • Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarate, conserved biosystem (from KEGG)
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    • Diseases of metabolism, organism-specific biosystem (from REACTOME)
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    • Glutathione metabolism, organism-specific biosystem (from KEGG)
      Glutathione metabolism, organism-specific biosystem
      Glutathione metabolism
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      Glutathione metabolism, organism-specific biosystem
      Glutathione metabolism
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      Glutathione metabolism, conserved biosystem
      Glutathione metabolism
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
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    • NADPH regeneration, organism-specific biosystem (from REACTOME)
      NADPH regeneration, organism-specific biosystemThe conversion of isocitrate to 2-oxoglutarate (alpha-ketoglutarate) with the concomitant synthesis of NADPH from NADP+ is thought to play a significant role in supplying NADPH for other reactions in...
    • Peroxisomal lipid metabolism, organism-specific biosystem (from REACTOME)
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    • Peroxisome, organism-specific biosystem (from KEGG)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    (R)-2-hydroxyglutarate dehydrogenase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    NAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    NADP binding IEA
    Inferred from Electronic Annotation
    more info
     
    isocitrate dehydrogenase (NADP+) activity EXP
    Inferred from Experiment
    more info
    PubMed 
    isocitrate dehydrogenase (NADP+) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    2-oxoglutarate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    2-oxoglutarate metabolic process TAS
    Traceable Author Statement
    more info
     
    NADPH regeneration TAS
    Traceable Author Statement
    more info
     
    female gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    glutathione metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glyoxylate cycle IEA
    Inferred from Electronic Annotation
    more info
     
    isocitrate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of phospholipid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of phospholipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    response to steroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    peroxisomal matrix TAS
    Traceable Author Statement
    more info
     
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    isocitrate dehydrogenase [NADP] cytoplasmic
    Names
    NADP(+)-specific ICDH
    NADP-dependent isocitrate dehydrogenase, cytosolic
    NADP-dependent isocitrate dehydrogenase, peroxisomal
    epididymis luminal protein 216
    epididymis secretory protein Li 26
    isocitrate dehydrogenase 1 (NADP+)
    isocitrate dehydrogenase 1 (NADP+), soluble
    oxalosuccinate decarboxylase
    NP_001269315.1
    NP_001269316.1
    NP_005887.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023319.2 RefSeqGene

      Range
      15932..34848
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_610

    mRNA and Protein(s)

    1. NM_001282386.1NP_001269315.1  isocitrate dehydrogenase [NADP] cytoplasmic

      See identical proteins and their annotated locations for NP_001269315.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC021046, DA707595, N21575
      Consensus CDS
      CCDS2381.1
      UniProtKB/Swiss-Prot
      O75874
      UniProtKB/TrEMBL
      V9HWJ2
      Related
      ENSP00000410513, OTTHUMP00000206464, ENST00000446179, OTTHUMT00000336670
      Conserved Domains (1) summary
      PTZ00435
      Location:1411
      PTZ00435; isocitrate dehydrogenase; Provisional
    2. NM_001282387.1NP_001269316.1  isocitrate dehydrogenase [NADP] cytoplasmic

      See identical proteins and their annotated locations for NP_001269316.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR exon, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC012846, DR158630, N21575
      Consensus CDS
      CCDS2381.1
      UniProtKB/Swiss-Prot
      O75874
      UniProtKB/TrEMBL
      V9HWJ2
      Related
      ENSP00000390265, OTTHUMP00000206466, ENST00000415913, OTTHUMT00000336672
      Conserved Domains (1) summary
      PTZ00435
      Location:1411
      PTZ00435; isocitrate dehydrogenase; Provisional
    3. NM_005896.3NP_005887.2  isocitrate dehydrogenase [NADP] cytoplasmic

      See identical proteins and their annotated locations for NP_005887.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) and variants 2 and 3 encode the same protein.
      Source sequence(s)
      BC021046, DA728868, N21575
      Consensus CDS
      CCDS2381.1
      UniProtKB/Swiss-Prot
      O75874
      UniProtKB/TrEMBL
      V9HWJ2
      Related
      ENSP00000260985, OTTHUMP00000163870, ENST00000345146, OTTHUMT00000256475
      Conserved Domains (1) summary
      PTZ00435
      Location:1411
      PTZ00435; isocitrate dehydrogenase; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

      Range
      208236227..208255143 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      209106804..209125723 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)