IDH1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
IDH1
Official Name
isocitrate dehydrogenase (NADP(+)) 1 [Source:HGNC Symbol;Acc:HGNC:5382]
Ensembl ID
ENSG00000138413
Bio databases IDs NCBI: 3417 Ensembl: ENSG00000138413
Aliases isocitrate dehydrogenase (NADP(+)) 1
Synonyms E030024J03Rik, HEL-216, HEL-S-26, Id-1, IDCD, IDH, IDP, IDPC, ISOCITRATE DEHYDROGENASE, isocitrate dehydrogenase 1 (NADP+), soluble, isocitrate dehydrogenase (NADP(+)) 1, PICD
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human IDH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Isocitrate/isopropylmalate dehydrogenase
  • NADP binding
  • isocitrate dehydrogenase (NADP)
  • protein homodimerization
  • enzyme
  • protein binding
  • magnesium ion binding
  • identical protein binding

Pathways

Biological processes and signaling networks where the IDH1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • astrocytoma
  • lower-risk myelodysplastic syndrome
  • oligodendroglioma
  • recurrent astrocytoma
  • recurrent oligodendroglioma
  • acute myeloid leukemia
  • refractory anemia with excess of blasts type 2
  • refractory acute myeloid leukemia
  • WHO grade II astrocytoma
regulated by
  • lipopolysaccharide
  • SREBF2
  • SREBF1
  • calcitriol
  • Hbx
  • sirolimus
  • dexamethasone
  • n-nitrosomethylbenzylamine
  • T-2 toxin
  • IL1B
regulates
role in cell
  • replication in
  • phosphorylation in
  • apoptosis
  • cell death
  • production in
  • proliferation
  • growth
  • expression in
  • cell viability
  • generation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • peroxisomal matrix
  • secretory granule lumen
  • ficolin-1-rich granule lumen
  • Extracellular Space
  • organelle lumens
  • Mitochondria
  • cytosol
  • peroxisomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human IDH1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • response to oxidative stress
  • regulation of phospholipid catabolic process
  • glyoxylate cycle
  • glutathione metabolic process
  • NADP metabolic process
  • isocitrate metabolic process
  • tricarboxylic acid cycle
  • response to steroid hormone stimulus
  • female gonad development
  • regulation of phospholipid biosynthetic process
  • 2-oxoglutarate metabolic process

Cellular Component

Where in the cell the gene product is active
  • peroxisome
  • extracellular vesicular exosome
  • cytoplasm
  • mitochondrion
  • cytosol
  • secretory granule lumen
  • peroxisomal matrix
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • magnesium ion binding
  • NADP binding
  • identical protein binding
  • protein homodimerization activity
  • protein binding
  • NAD binding
  • cadherin binding
  • isocitrate dehydrogenase (NADP+) activity

Gene-Specific Assays for Results You Can Trust

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