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 NAD... See more...

Aliases for IDH1 Gene

Aliases for IDH1 Gene

  • Isocitrate Dehydrogenase (NADP(+)) 1 2 3
  • Isocitrate Dehydrogenase (NADP(+)) 1, Cytosolic 2 3 5
  • Isocitrate Dehydrogenase [NADP] Cytoplasmic 3 4
  • Isocitrate Dehydrogenase 1 (NADP+), Soluble 2 3
  • Oxalosuccinate Decarboxylase 3 4
  • NADP(+)-Specific ICDH 3 4
  • EC 1.1.1.42 4 54
  • PICD 3 4
  • IDH 3 4
  • IDP 3 4
  • NADP-Dependent Isocitrate Dehydrogenase, Peroxisomal 3
  • NADP-Dependent Isocitrate Dehydrogenase, Cytosolic 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Cytosolic NADP-Isocitrate Dehydrogenase 4
  • Epididymis Secretory Protein Li 26 3
  • Isocitrate Dehydrogenase 1 (NADP+) 2
  • Epididymis Luminal Protein 216 3
  • HEL-S-26 3
  • HEL-216 3
  • IDCD 3
  • IDPC 3

External Ids for IDH1 Gene

Previous GeneCards Identifiers for IDH1 Gene

  • GC02M207376
  • GC02M207825
  • GC02M209064
  • GC02M209303
  • GC02M208926
  • GC02M208809
  • GC02M209100
  • GC02M200949

Summaries for IDH1 Gene

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]

CIViC Summary for IDH1 Gene

  • IDH1 mutations have been observed in a number of cancer types, including sarcomas, hematologic malignancies, colon cancer and brain cancer. Mutations in the two isocitrate dehydrogenase enzymes involved in cytoplasmic (IDH1) and mitochondrial (IDH2) conversion of alpha-ketoglutarate to D-2-hydroxyglutarate have been described as mutually exclusive in many of these cancer types. The most frequent mutations involve R132 (IDH1) and R172 (IDH2) involve the active site and result in neomorphic enzyme activity. The implications of mutations in this gene vary greatly by cancer type. In myelodysplastic syndromes and acute myeloid leukemia (AML), IDH1 mutations have been associated with worse outcome, shorter overall survival, and normal karyotype. However, in glioblastoma and astrocytoma, patients with IDH1 mutations have shown better overall survival than patients with wild-type IDH1. Unlike the association with cytogenetically normal AML, in glioblastoma, IDH1 mutations have been associated with specific cytogenetic abnormalities, 1p and 19q deletions.

GeneCards Summary for IDH1 Gene

IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1) is a Protein Coding gene. Diseases associated with IDH1 include Glioma Susceptibility 1 and Astrocytoma. Among its related pathways are Peroxisomal lipid metabolism and Glutathione metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is IDH2.

Gene Wiki entry for IDH1 Gene

Additional gene information for IDH1 Gene

No data available for UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IDH1 Gene

Genomics for IDH1 Gene

GeneHancer (GH) Regulatory Elements for IDH1 Gene

Promoters and enhancers for IDH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J208251 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.4 +12.3 12280 4.8 SP1 ZBTB40 CTCF FOXA1 LCORL MLX SMARCE1 RBPJ POLR2A NR2F1 IDH1-AS1 PIKFYVE lnc-C2orf80-1 IDH1 CREB1 PTH2R piR-30449-089
GH02J208264 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 -0.6 -565 3.9 SIN3A SP1 ZBTB40 SREBF1 LCORL FOXA1 MLX RBPJ POLR2A CTBP1 PIKFYVE IDH1 CREB1 ENSG00000223725 PTH2R MYL6BP1
GH02J208130 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 10.2 +135.6 135573 1.4 MLX NR2F6 MIXL1 HLF ELF3 ZNF644 KAT8 POLR2A GATAD2A RXRB CRYGC CRYGA IDH1-AS1 IDH1 CRYGEP CRYGD LOC100533727 LOC100507443
GH02J208175 Enhancer 1 Ensembl ENCODE 11.9 +90.7 90674 1.6 CTCF MLX RBPJ ATF1 CREB1 MIXL1 HLF RAD21 ELF3 MAFK IDH1-AS1 IDH1 CRYGB CRYGC CRYGD piR-43106-130 C2orf80 LOC100507443
GH02J208112 Promoter/Enhancer 1.1 Ensembl ENCODE 11 +153.2 153242 2.1 GATA3 ZNF217 SP7 ZBTB8A CTBP1 ZNF692 RCOR1 MAX ZXDB ZBTB48 CRYGEP CRYGB IDH1-AS1 IDH1 CRYGA FZD5 CRYGD piR-39781-018
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IDH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IDH1 gene promoter:
  • ATF6
  • C/EBPalpha
  • CHOP-10
  • Evi-1
  • GATA-1
  • HOXA3
  • MIF-1
  • Pax-5
  • STAT5B

Genomic Locations for IDH1 Gene

Genomic Locations for IDH1 Gene
chr2:208,236,227-208,266,074
(GRCh38/hg38)
Size:
29,848 bases
Orientation:
Minus strand
chr2:209,100,951-209,130,798
(GRCh37/hg19)
Size:
29,848 bases
Orientation:
Minus strand

Genomic View for IDH1 Gene

Genes around IDH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IDH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IDH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IDH1 Gene

Proteins for IDH1 Gene

  • Protein details for IDH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75874-IDHC_HUMAN
    Recommended name:
    Isocitrate dehydrogenase [NADP] cytoplasmic
    Protein Accession:
    O75874
    Secondary Accessions:
    • Q567U4
    • Q6FHQ6
    • Q7Z3V0
    • Q93090
    • Q9NTJ9
    • Q9UKW8

    Protein attributes for IDH1 Gene

    Size:
    414 amino acids
    Molecular mass:
    46659 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for IDH1 Gene

neXtProt entry for IDH1 Gene

Selected DME Specific Peptides for IDH1 Gene

O75874:
  • QKVTYLVH
  • WACKNYDGDV
  • KNYDGDVQSD
  • EAAHGTV
  • GVAMGMYN
  • GDQYRAT
  • TKNTILK
  • GDEMTRIIW
  • YEHRLIDDMVA
  • LDLHSYDL
  • NRDATNDQVT
  • SPNGTIRNIL
  • YDGRFKDIFQ
  • IICKNIPRL
  • KPIIIGRHA
  • IASIFAW
  • MWKSPNGTIRN
  • HGTVTRH
  • NQDKSIEDFAHSSFQMALSK

Post-translational modifications for IDH1 Gene

  • Acetylation at Lys-374 dramatically reduces catalytic activity.
  • Ubiquitination at Lys126, Lys224, Lys233, and Lys321
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Boster Bio Antibodies for IDH1

Protein Products

Domains & Families for IDH1 Gene

Gene Families for IDH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for IDH1 Gene

GenScript: Design optimal peptide antigens:
  • Oxalosuccinate decarboxylase (IDHC_HUMAN)
  • Isocitrate dehydrogenase [NADP] (Q0QER2_HUMAN)
  • Isocitrate dehydrogenase [NADP] (Q567U4_HUMAN)
  • Isocitrate dehydrogenase [NADP] (Q6FHQ6_HUMAN)
  • Isocitrate dehydrogenase [NADP] (Q6FI37_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75874

UniProtKB/Swiss-Prot:

IDHC_HUMAN :
  • Belongs to the isocitrate and isopropylmalate dehydrogenases family.
Family:
  • Belongs to the isocitrate and isopropylmalate dehydrogenases family.
genes like me logo Genes that share domains with IDH1: view

Function for IDH1 Gene

Molecular function for IDH1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH; Xref=Rhea:RHEA:19629, ChEBI:CHEBI:16087, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.42; Evidence={ECO:0000269 PubMed:10521434, ECO:0000269 PubMed:19935646};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=49 uM for NADP {ECO:0000269 PubMed:19935646}; KM=29 uM for magnesium chloride {ECO:0000269 PubMed:19935646}; KM=65 uM for isocitrate {ECO:0000269 PubMed:19935646};
GENATLAS Biochemistry:
isocitrate dehydrogenase 1,cytosolic,NADPH dependent,third step of citric acid cycle

Enzyme Numbers (IUBMB) for IDH1 Gene

Phenotypes From GWAS Catalog for IDH1 Gene

Gene Ontology (GO) - Molecular Function for IDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 19935646
GO:0004448 isocitrate dehydrogenase activity IEA --
GO:0004450 isocitrate dehydrogenase (NADP+) activity IEA,IDA 10521434
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with IDH1: view
genes like me logo Genes that share phenotypes with IDH1: view

Human Phenotype Ontology for IDH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IDH1 Gene

MGI Knock Outs for IDH1:
  • Idh1 Idh1<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for IDH1

CRISPR Products

miRNA for IDH1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDH1

Clone Products

  • Addgene plasmids for IDH1

No data available for Transcription Factor Targets and HOMER Transcription for IDH1 Gene

Localization for IDH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IDH1 Gene

Cytoplasm, cytosol. Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IDH1 gene
Compartment Confidence
peroxisome 5
cytosol 5
extracellular 4
mitochondrion 4
nucleus 3
cytoskeleton 2
plasma membrane 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IBA,IEA 21873635
GO:0005777 peroxisome IDA,IBA 10521434
GO:0005782 peroxisomal matrix TAS --
genes like me logo Genes that share ontologies with IDH1: view

Pathways & Interactions for IDH1 Gene

genes like me logo Genes that share pathways with IDH1: view

SIGNOR curated interactions for IDH1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006097 glyoxylate cycle IEA --
GO:0006099 tricarboxylic acid cycle IEA --
GO:0006102 isocitrate metabolic process IEA,IDA 10521434
GO:0006103 2-oxoglutarate metabolic process TAS --
GO:0006625 protein targeting to peroxisome TAS --
genes like me logo Genes that share ontologies with IDH1: view

Drugs & Compounds for IDH1 Gene

(37) Drugs for IDH1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ivosidenib Approved, Investigational Pharma Target, inhibitor 22
Indocyanine green acid form Approved, Investigational Pharma Enzyme, cofactor 0
Venetoclax Approved, Investigational Pharma Bcl-2 inhibitor,potent and selective 189
Azacitidine Approved, Investigational Pharma 521
Cytarabine Approved, Experimental, Investigational Pharma 1294

(12) Additional Compounds for IDH1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
Oxalosuccinic acid
  • 1-Oxopropane-1,2,3-tricarboxylate
  • Oxalbernsteinsaeure
  • Oxalosuccinate
  • 1-Oxopropane-1,2,3-tricarboxylic acid
1948-82-9

(2) ApexBio Compounds for IDH1 Gene

Compound Action Cas Number
AGI-5198 IDH1 inhibitor against R132 mutant,selective and cell-permeable 1355326-35-0
Mutant IDH1 inhibitor 1429180-08-4
genes like me logo Genes that share compounds with IDH1: view

Transcripts for IDH1 Gene

mRNA/cDNA for IDH1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDH1

Clone Products

  • Addgene plasmids for IDH1

Alternative Splicing Database (ASD) splice patterns (SP) for IDH1 Gene

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: - -
SP6: - -
SP7: -
SP8:

Relevant External Links for IDH1 Gene

GeneLoc Exon Structure for
IDH1
ECgene alternative splicing isoforms for
IDH1

Expression for IDH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IDH1 Gene

mRNA differential expression in normal tissues according to GTEx for IDH1 Gene

This gene is overexpressed in Adrenal Gland (x6.5) and Liver (x4.9).

Protein differential expression in normal tissues from HIPED for IDH1 Gene

This gene is overexpressed in Liver, secretome (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IDH1 Gene



Protein tissue co-expression partners for IDH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of IDH1 Gene:

IDH1

SOURCE GeneReport for Unigene cluster for IDH1 Gene:

Hs.593422

Evidence on tissue expression from TISSUES for IDH1 Gene

  • Liver(4.9)
  • Nervous system(4.9)
  • Lung(4.6)
  • Kidney(4.5)
  • Skin(3.1)
  • Intestine(3)
  • Blood(2.9)
  • Heart(2.6)
  • Gall bladder(2.4)
  • Spleen(2.4)
  • Stomach(2.2)
  • Adrenal gland(2.1)
  • Bone marrow(2.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IDH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IDH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for IDH1 Gene

Orthologs for IDH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IDH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IDH1 33 32
  • 99.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IDH1 33 32
  • 92.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IDH1 33 32
  • 91.14 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Idh1 17 33 32
  • 90.42 (n)
rat
(Rattus norvegicus)
Mammalia Idh1 32
  • 90.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IDH1 33
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IDH1 33
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves IDH1 33 32
  • 80 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IDH1 33
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17063 32
zebrafish
(Danio rerio)
Actinopterygii idh1 33 32
  • 74.24 (n)
OneToOne
zgc66318 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006660 32
  • 67.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta Idh 33 32
  • 67.56 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F59B8.2 34
  • 74 (a)
idh-1 33 32
  • 67.24 (n)
OneToOne
C34F6.8 34
  • 66 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B03355g 32
  • 65.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IDP1 35 33 32
  • 63.61 (n)
IDP2 33
  • 61 (a)
ManyToMany
IDP3 33
  • 58 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER061C 32
  • 62.46 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons cICDH 32
  • 63.48 (n)
rice
(Oryza sativa)
Liliopsida Os01g0654500 32
  • 64.16 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.1053 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8995 33
  • 73 (a)
OneToOne
Cin.8505 32
bread mold
(Neurospora crassa)
Ascomycetes NCU03857 32
  • 64.48 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes idp1 32
  • 62.12 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8505 32
Species where no ortholog for IDH1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for IDH1 Gene

ENSEMBL:
Gene Tree for IDH1 (if available)
TreeFam:
Gene Tree for IDH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IDH1: view image

Paralogs for IDH1 Gene

Paralogs for IDH1 Gene

(1) SIMAP similar genes for IDH1 Gene using alignment to 8 proteins:

  • IDHC_HUMAN
  • C9J4N6_HUMAN
  • C9JJE5_HUMAN
  • C9JLU6_HUMAN
  • Q0QER2_HUMAN
  • Q6FI37_HUMAN
  • Q6FIA4_HUMAN
  • Q9H302_HUMAN

Pseudogenes.org Pseudogenes for IDH1 Gene

genes like me logo Genes that share paralogs with IDH1: view

Variants for IDH1 Gene

Sequence variations from dbSNP and Humsavar for IDH1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs121913499 likely-pathogenic, pathogenic, Neoplasm of brain, Lung adenocarcinoma, Neoplasm of the breast, Astrocytoma, Hepatocellular carcinoma, Medulloblastoma, Multiple myeloma, Malignant melanoma of skin, Transitional cell carcinoma of the bladder, Adenoid cystic carcinoma, Neoplasm of the large intestine, Adenocarcinoma of prostate, Brainstem glioma, Glioblastoma, Myelodysplastic syndrome, Acute myeloid leukemia, Colorectal cancer, Glioma samples, A glioma sample, A glioma sample 208,248,389(-) G/A/C/T coding_sequence_variant, missense_variant
rs121913500 likely-pathogenic, pathogenic, not-provided, Myelodysplastic syndrome, Neoplasm of the large intestine, Acute myeloid leukemia, Transitional cell carcinoma of the bladder, Medulloblastoma, Glioblastoma, Malignant melanoma of skin, Lung adenocarcinoma, Neoplasm of brain, Adenocarcinoma of prostate, Multiple myeloma, Neoplasm of the breast, Brainstem glioma, Hepatocellular carcinoma, Adenoid cystic carcinoma, Glioblastoma multiforme, somatic, Oligodendroglioma, Astrocytoma, A glioma sample, A glioma sample 208,248,388(-) C/A/G/T coding_sequence_variant, missense_variant
rs34218846 benign, not specified, - 208,243,593(-) C/T coding_sequence_variant, missense_variant
rs11554137 benign, not specified 208,248,468(-) G/A coding_sequence_variant, synonymous_variant
rs142801125 not-provided, not specified 208,243,466(-) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for IDH1 Gene

Variant ID Type Subtype PubMed ID
nsv525747 CNV loss 19592680
nsv584297 CNV gain 21841781
nsv834517 CNV loss 17160897
nsv963771 CNV duplication 23825009

Variation tolerance for IDH1 Gene

Residual Variation Intolerance Score: 36.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.73; 66.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IDH1 Gene

Human Gene Mutation Database (HGMD)
IDH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IDH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IDH1 Gene

Disorders for IDH1 Gene

MalaCards: The human disease database

(87) MalaCards diseases for IDH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glioma susceptibility 1
  • glm1
astrocytoma
  • astrocytic tumor
oligodendroglioma
  • oligodendroglial neoplasm
multiple enchondromatosis, maffucci type
  • maffucci syndrome
metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria
  • spondyloenchondromatosis with d-2-hydroxyglutaric aciduria
- elite association - COSMIC cancer census association via MalaCards
Search IDH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IDHC_HUMAN
  • 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. {ECO:0000269 PubMed:19117336, ECO:0000269 PubMed:19935646}. 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. {ECO:0000269 PubMed:19935646}.
  • Note=Genetic variations are associated with cartilaginous tumors such as enchondroma or chondrosarcoma. Mutations of Arg-132 to Cys, Gly or His abolish the conversion of isocitrate to alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate. {ECO:0000269 PubMed:26161668}.

Additional Disease Information for IDH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IDH1: view

No data available for Genatlas for IDH1 Gene

Publications for IDH1 Gene

  1. Rapid and sensitive assessment of the IDH1 and IDH2 mutation status in cerebral gliomas based on DNA pyrosequencing. (PMID: 20131059) Felsberg J … Reifenberger G (Acta neuropathologica 2010) 3 23 43 56
  2. Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation. (PMID: 20097881) Chou WC … Tien HF (Blood 2010) 3 23 43 56
  3. Molecular predictors of progression-free and overall survival in patients with newly diagnosed glioblastoma: a prospective translational study of the German Glioma Network. (PMID: 19805672) Weller M … Loeffler M (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009) 3 23 43 56
  4. Analysis of IDH1 and IDH2 mutations in Japanese glioma patients. (PMID: 19765000) Sonoda Y … Tominaga T (Cancer science 2009) 3 23 43 56
  5. IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (PMID: 19117336) Bleeker FE … Bardelli A (Human mutation 2009) 3 4 23 56

Products for IDH1 Gene

Sources for IDH1 Gene