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Aliases for IDH1 Gene

Aliases for IDH1 Gene

  • Isocitrate Dehydrogenase (NADP(+)) 1, Cytosolic 2 3 5
  • Isocitrate Dehydrogenase 1 (NADP+), Soluble 2 3
  • Oxalosuccinate Decarboxylase 3 4
  • NADP(+)-Specific ICDH 3 4
  • EC 1.1.1.42 4 61
  • PICD 3 4
  • IDH 3 4
  • IDP 3 4
  • NADP-Dependent Isocitrate Dehydrogenase, Peroxisomal 3
  • NADP-Dependent Isocitrate Dehydrogenase, Cytosolic 3
  • Isocitrate Dehydrogenase [NADP] Cytoplasmic 3
  • Cytosolic NADP-Isocitrate Dehydrogenase 4
  • Isocitrate Dehydrogenase 1 (NADP+) 2
  • Epididymis Secretory Protein Li 26 3
  • 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, Cytosolic) is a Protein Coding gene. Diseases associated with IDH1 include Glioma Susceptibility 1 and Metaphyseal Enchondromatosis With D-2-Hydroxyglutaric Aciduria. Among its related pathways are Innate Immune System and Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate. 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

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IDH1 Gene

Genomics for IDH1 Gene

Regulatory Elements for IDH1 Gene

Enhancers for IDH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G208310 1.2 Ensembl ENCODE dbSUPER 11.1 -46.5 -46480 3.7 TBP PKNOX1 SIN3A RELA ARID3A EGR1 POLR2A RELB CREM PAF1 IDH1 IDH1-AS1 PIKFYVE PIR36576 PTH2R
GH02G208112 1.1 Ensembl ENCODE 11 +153.0 153043 1.7 TBP FEZF1 RAD21 ZNF2 RFX5 ZNF366 RCOR1 OVOL3 REST ZNF843 CRYGEP CRYGB IDH1-AS1 IDH1 CRYGA FZD5 CRYGD GC02P208116
GH02G207747 1.1 ENCODE dbSUPER 9.8 +518.2 518189 2.6 ELF3 FOXA2 RAD21 ZNF48 CHAMP1 RARA CREM THAP11 SP5 ZHX2 FZD5 METTL21A PLEKHM3 CRYGD CRYGC IDH1 IDH1-AS1 CRYGB ENSG00000272851 CCNYL1
GH02G208175 0.9 ENCODE 11.9 +90.6 90573 0.2 ELF3 CBX3 ATF1 RB1 ARID4B ZSCAN9 RAD21 RARA RFX5 YY1 IDH1-AS1 IDH1 CRYGB CRYGC CRYGD C2orf80 CRYGA
GH02G208320 0.8 ENCODE dbSUPER 11.6 -54.8 -54787 1.4 EED IKZF1 EBF1 IKZF2 NR2F2 IDH1-AS1 IDH1 PIKFYVE PTH2R PIR36576
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IDH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for IDH1 Gene

Chromosome:
2
Start:
208,236,227 bp from pter
End:
208,266,074 bp from pter
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 isoforms=126, posLast=233233, and isoforms=321
  • Modification sites at PhosphoSitePlus

Domains & Families for IDH1 Gene

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

No data available for Gene Families for IDH1 Gene

Function for IDH1 Gene

Molecular function for IDH1 Gene

GENATLAS Biochemistry:
isocitrate dehydrogenase 1,cytosolic,NADPH dependent,third step of citric acid cycle
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};
UniProtKB/Swiss-Prot CatalyticActivity:
Isocitrate + NADP(+) = 2-oxoglutarate + CO(2) + NADPH.

Enzyme Numbers (IUBMB) 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 IDA,IEA 10521434
GO:0005102 receptor binding IPI 20178365
GO:0016491 oxidoreductase activity 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 tm1b(EUCOMM)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for IDH1

CRISPR Products

miRNA for IDH1 Gene

Inhibitory RNA Products

Flow Cytometry Products

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. 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
extracellular 5
peroxisome 5
cytosol 5
mitochondrion 4
nucleus 3
cytoskeleton 2
plasma membrane 1

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 IEA --
GO:0005777 peroxisome IEA,IDA 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

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 IDA,IEA 10521434
GO:0006103 2-oxoglutarate metabolic process TAS --
GO:0006740 NADPH regeneration TAS --
genes like me logo Genes that share ontologies with IDH1: view

No data available for SIGNOR curated interactions for IDH1 Gene

Drugs & Compounds for IDH1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
indocyanine Green Approved Pharma Inhibition, Inhibitor, Enzyme, cofactor 0
Azacitidine Approved, Investigational Pharma 529
Cytarabine Approved, Investigational Pharma 1117
Daunorubicin Approved Pharma DNA topoisomerase II inhibitor 273
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors, Topoisomerase II inhibitor 1269

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

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
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
Oxalosuccinic acid
  • Oxalosuccinate
  • Oxalosuccinic acid
1948-82-9
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7

(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

Unigene Clusters for IDH1 Gene

Isocitrate dehydrogenase 1 (NADP+), soluble:
Representative Sequences:

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, PaxDb, 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)
  • Blood(2.9)
  • Intestine(2.9)
  • Heart(2.6)
  • Gall bladder(2.3)
  • Stomach(2.3)
  • Adrenal gland(2.1)
  • Muscle(2.1)
  • Spleen(2.1)
  • Bone marrow(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
Organs:
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

Primer Products

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 34 35
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia IDH1 34 35
  • 92.83 (n)
cow
(Bos Taurus)
Mammalia IDH1 34 35
  • 91.14 (n)
mouse
(Mus musculus)
Mammalia Idh1 34 16 35
  • 90.42 (n)
rat
(Rattus norvegicus)
Mammalia Idh1 34
  • 90.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IDH1 35
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IDH1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves IDH1 34 35
  • 80 (n)
lizard
(Anolis carolinensis)
Reptilia IDH1 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17063 34
zebrafish
(Danio rerio)
Actinopterygii idh1 34 35
  • 74.24 (n)
zgc66318 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006660 34
  • 67.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta Idh 34 35
  • 67.56 (n)
worm
(Caenorhabditis elegans)
Secernentea F59B8.2 36
  • 74 (a)
idh-1 34 35
  • 67.24 (n)
C34F6.8 36
  • 66 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B03355g 34
  • 65.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IDP1 34 35 37
  • 63.61 (n)
IDP2 35
  • 61 (a)
ManyToMany
IDP3 35
  • 58 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER061C 34
  • 62.46 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons cICDH 34
  • 63.48 (n)
rice
(Oryza sativa)
Liliopsida Os01g0654500 34
  • 64.16 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.1053 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8995 35
  • 73 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03857 34
  • 64.48 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes idp1 34
  • 62.12 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8505 34
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)

Paralogs for IDH1 Gene

Paralogs for IDH1 Gene

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

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 Sequence Context AA Info Type
rs121913499 Colorectal cancer, Glioma samples, A glioma sample 208,248,389(-) TAGGT(A/C/T)GTCAT reference, missense
rs121913500 Pathogenic, A glioma sample 208,248,388(-) AGGTC(A/G)TCATG reference, missense
VAR_055454 A glioma sample
VAR_055456 A glioma sample
rs142801125 untested 208,243,466(+) GCCCA(C/T)CATAT reference, missense

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)

Relevant External Links for IDH1 Gene

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

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

Disorders for IDH1 Gene

MalaCards: The human disease database

(51) MalaCards diseases for IDH1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glioma susceptibility 1
  • glioma somatic
metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria
  • metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria
multiple enchondromatosis, maffucci type
  • maffucci syndrome
enchondromatosis, multiple, ollier type
  • ollier disease
acute myeloid leukemia, flt3-related
  • leukemia, acute myeloid
- 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}.

Relevant External Links for IDH1

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

No data available for Genatlas for IDH1 Gene

Publications for IDH1 Gene

  1. Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation. (PMID: 20097881) Chou W.C. … Tien H.F. (Blood 2010) 3 22 46 64
  2. 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 Neuropathol. 2010) 3 22 46 64
  3. IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (PMID: 19117336) Bleeker F.E. … Bardelli A. (Hum. Mutat. 2009) 3 4 22 64
  4. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. (PMID: 19935646) Dang L. … Su S.M. (Nature 2009) 3 4 22 64
  5. IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas. (PMID: 19246647) Watanabe T. … Ohgaki H. (Am. J. Pathol. 2009) 3 22 46 64

Products for IDH1 Gene

  • Addgene plasmids for IDH1

Sources for IDH1 Gene

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