U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 3417, updated on 3-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
IDH1provided by HGNC
Official Full Name
isocitrate dehydrogenase (NADP(+)) 1provided by HGNC
Primary source
HGNC:HGNC:5382
See related
Ensembl:ENSG00000138413 MIM:147700; AllianceGenome:HGNC:5382
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]
Expression
Ubiquitous expression in adrenal (RPKM 116.0), liver (RPKM 110.2) and 23 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See IDH1 in Genome Data Viewer
Location:
2q34
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (208236227..208255071, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (208716002..208734866, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (209100951..209119795, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:209080668-209081230 Neighboring gene ribosomal protein SA pseudogene 27 Neighboring gene TPT1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12288 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:209119503-209120029 Neighboring gene IDH1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:209134199-209134700 Neighboring gene phosphoinositide kinase, FYVE-type zinc finger containing Neighboring gene MYL6B pseudogene 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Integrated genomic characterization of IDH1-mutant glioma malignant progression. Bai H, et al. Nat Genet, 2016 Jan. PMID 26618343, Free PMC Article
  2. Isocitrate dehydrogenase 1 mutations prime the all-trans retinoic acid myeloid differentiation pathway in acute myeloid leukemia. Boutzen H, et al. J Exp Med, 2016 Apr 4. PMID 26951332, Free PMC Article
  3. Systematic analysis of overall survival and interactions between tumor mutations and drug treatment. Gatto F, et al. J Hematol Oncol, 2016 Mar 2. PMID 26936071, Free PMC Article
  4. Do Long-Term Survivor Primary Glioblastoma Patients Harbor IDH1 Mutations? Sarmiento JM, et al. J Neurol Surg A Cent Eur Neurosurg, 2016 May. PMID 26935296
  5. [The expression of IDH1 (R132H) is positively correlated with cell proliferation and angiogenesis in glioma samples]. Shi J, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2016 Mar. PMID 26927556

See all (975) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Gaining Insight into the Catalytic Mechanism of the R132H IDH1 Mutant: A Synergistic DFT Cluster and Experimental Investigation.
    Title: Gaining Insight into the Catalytic Mechanism of the R132H IDH1 Mutant: A Synergistic DFT Cluster and Experimental Investigation.
  2. Differential isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2 mutation-related landscape in intrahepatic cholangiocarcinoma.
    Title: Differential isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2 mutation-related landscape in intrahepatic cholangiocarcinoma.
  3. The interplay mechanism between IDH mutation, MGMT-promoter methylation, and PRMT5 activity in the progression of grade 4 astrocytoma: unraveling the complex triad theory.
    Title: The interplay mechanism between IDH mutation, MGMT-promoter methylation, and PRMT5 activity in the progression of grade 4 astrocytoma: unraveling the complex triad theory.
  4. IDH1 mutation produces R-2-hydroxyglutarate (R-2HG) and induces mir-182-5p expression to regulate cell cycle and tumor formation in glioma.
    Title: IDH1 mutation produces R-2-hydroxyglutarate (R-2HG) and induces mir-182-5p expression to regulate cell cycle and tumor formation in glioma.
  5. Mutant IDH1 inhibition induces dsDNA sensing to activate tumor immunity.
    Title: Mutant IDH1 inhibition induces dsDNA sensing to activate tumor immunity.
  6. Demographic bias in misdiagnosis by computational pathology models.
    Title: Demographic bias in misdiagnosis by computational pathology models.
  7. Correlation of IDH1 gene expression error in breast tumor biopsy in patients with invasive ductal carcinoma.
    Title: Correlation of IDH1 gene expression error in breast tumor biopsy in patients with invasive ductal carcinoma.
  8. IDH1 p.R132C mutation in prostatic carcinoma with psammomatous calcifications: report of two cases.
    Title: IDH1 p.R132C mutation in prostatic carcinoma with psammomatous calcifications: report of two cases.
  9. IDH1[R132H] mutation increases radiotherapy efficacy and a 4-gene radiotherapy-related signature of WHO grade 4 gliomas.
    Title: IDH1(R132H) mutation increases radiotherapy efficacy and a 4-gene radiotherapy-related signature of WHO grade 4 gliomas.
  10. The Epigenetic Evolution of Glioma Is Determined by the IDH1 Mutation Status and Treatment Regimen.
    Title: The Epigenetic Evolution of Glioma Is Determined by the IDH1 Mutation Status and Treatment Regimen.
Submit: New GeneRIF Correction See all GeneRIFs (892)

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Glioma susceptibility 1
MedGen: C2750850 OMIM: 137800 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD binding IEA
Inferred from Electronic Annotation
more info
  
enables NADP binding IEA
Inferred from Electronic Annotation
more info
  
enables cadherin binding HDA PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables isocitrate dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables isocitrate dehydrogenase (NADP+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in 2-oxoglutarate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in NADP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in female gonad development IEA
Inferred from Electronic Annotation
more info
  
involved_in glutathione metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glyoxylate cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in isocitrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in isocitrate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of phospholipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of phospholipid catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in response to oxidative stress IEA
Inferred from Electronic Annotation
more info
  
involved_in response to steroid hormone IEA
Inferred from Electronic Annotation
more info
  
involved_in tricarboxylic acid cycle IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
  
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in secretory granule lumen TAS
Traceable Author Statement
more info
  
located_in tertiary granule lumen TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
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
epididymis secretory sperm binding protein
isocitrate dehydrogenase (NADP(+)) 1, cytosolic
isocitrate dehydrogenase 1 (NADP+), soluble
oxalosuccinate decarboxylase
NP_001269315.1
NP_001269316.1
NP_005887.2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001282386.1 → NP_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, Q567U4, Q6FHQ6, Q7Z3V0, Q93090, Q9NTJ9, Q9UKW8
    UniProtKB/TrEMBL
    A0A024R3Y6, B2R5M8, Q6FI37, V9HWJ2
    Related
    ENSP00000410513.1, ENST00000446179.5
    Conserved Domains (1) summary
    PTZ00435
    Location:1 → 411
    PTZ00435; isocitrate dehydrogenase; Provisional

  2. NM_001282387.1 → NP_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, Q567U4, Q6FHQ6, Q7Z3V0, Q93090, Q9NTJ9, Q9UKW8
    UniProtKB/TrEMBL
    A0A024R3Y6, B2R5M8, Q6FI37, V9HWJ2
    Related
    ENSP00000390265.1, ENST00000415913.5
    Conserved Domains (1) summary
    PTZ00435
    Location:1 → 411
    PTZ00435; isocitrate dehydrogenase; Provisional

  3. NM_005896.4 → NP_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)
    AC016697, BC021046, DA728868
    Consensus CDS
    CCDS2381.1
    UniProtKB/Swiss-Prot
    O75874, Q567U4, Q6FHQ6, Q7Z3V0, Q93090, Q9NTJ9, Q9UKW8
    UniProtKB/TrEMBL
    A0A024R3Y6, B2R5M8, Q6FI37, V9HWJ2
    Related
    ENSP00000260985.2, ENST00000345146.7
    Conserved Domains (1) summary
    PTZ00435
    Location:1 → 411
    PTZ00435; isocitrate dehydrogenase; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    208236227..208255071 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    208716002..208734866 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75874.2 GenPept UniProtKB/Swiss-Prot:O75874

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous