IDH1
entrez
3417
canonical
uniprot
O75874
canonical
ensembl
ENSG00000138413
resolver
ensp
ENSP00000260985
resolver
ensp
ENSP00000390265
resolver
ensp
ENSP00000410513
resolver
ensp
ENSP00000532278
resolver
ensp
ENSP00000532279
resolver
ensp
ENSP00000532283
resolver
ensp
ENSP00000532285
resolver
ensp
ENSP00000532286
resolver
ensp
ENSP00000532287
resolver
ensp
ENSP00000532288
resolver
ensp
ENSP00000581654
resolver
ensp
ENSP00000581656
resolver
ensp
ENSP00000581657
resolver
ensp
ENSP00000581660
resolver
ensp
ENSP00000581661
resolver
ensp
ENSP00000581663
resolver
ensp
ENSP00000581664
resolver
ensp
ENSP00000631925
resolver
ensp
ENSP00000631926
resolver
enst
ENST00000345146
resolver
enst
ENST00000415913
resolver
enst
ENST00000446179
resolver
enst
ENST00000862219
resolver
enst
ENST00000862220
resolver
enst
ENST00000862224
resolver
enst
ENST00000862226
resolver
enst
ENST00000862227
resolver
enst
ENST00000862228
resolver
enst
ENST00000862229
resolver
enst
ENST00000911595
resolver
enst
ENST00000911597
resolver
enst
ENST00000911598
resolver
enst
ENST00000911601
resolver
enst
ENST00000911602
resolver
enst
ENST00000911604
resolver
enst
ENST00000911605
resolver
enst
ENST00000961866
resolver
enst
ENST00000961867
resolver
genesymbol
HEL-S-26
resolver
genesymbol
IDH1
resolver
genesymbol_syn
PICD
resolver
hgnc
HGNC:5382
resolver
uniprot
A0A024R3Y6
resolver
uniprot
Q567U4
resolver
uniprot
Q6FHQ6
resolver
uniprot
Q7Z3V0
resolver
uniprot
Q93090
resolver
uniprot
Q9NTJ9
resolver
uniprot
Q9UKW8
resolver
uniprot
V9HWJ2
resolver
uniprot_entry
A0A024R3Y6_HUMAN
resolver
uniprot_entry
IDHC_HUMAN
resolver
uniprot_sec
Q567U4
resolver
uniprot_sec
Q6FHQ6
resolver
uniprot_sec
Q7Z3V0
resolver
uniprot_sec
Q93090
resolver
uniprot_sec
Q9NTJ9
resolver
uniprot_sec
Q9UKW8
resolver
uniprot_sec
V9HWJ2
resolver
amino_acid_sequence
MSKKISGGSVVEMQGDEMTRIIWELIKEKLIFPYVELDLHSYDLGIENRDATNDQVTKDAAEAIKKHNVGVKCATITPDEKRVEEFKLKQMWKSPNGTIRNILGGTVFREAIICKNIPRLVSGWVKPIIIGRHAYGDQYRATDFVVPGPGKVEITYTPSDGTQKVTYLVHNFEEGGGVAMGMYNQDKSIEDFAHSSFQMALSKGWPLYLSTKNTILKKYDGRFKDIFQEIYDKQYKSQFEAQKIWYEHRLIDDMVAQAMKSEGGFIWACKNYDGDVQSDSVAQGYGSLGMMTSVLVCPDGKTVEAEAAHGTVTRHYRMYQKGQETSTNPIASIFAWTRGLAHRAKLDNNKELAFFANALEEVSIETIEAGFMTKDLAACIKGLPNVQRSDYLNTFEFMDKLGENLKIKLAQAKL
uniprot
proteins
disease_involvement
DISEASE: 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}.; DISEASE: 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}.
uniprot
proteins
ec_number
1.1.1.42
uniprot
proteins
function
FUNCTION: Catalyzes the NADP(+)-dependent oxidative decarboxylation of isocitrate (D-threo-isocitrate) to 2-ketoglutarate (2-oxoglutarate), which is required by other enzymes such as the phytanoyl-CoA dioxygenase (PubMed:10521434, PubMed:19935646). Plays a critical role in the generation of NADPH, an important cofactor in many biosynthesis pathways (PubMed:10521434). May act as a corneal epithelial crystallin and may be involved in maintaining corneal epithelial transparency (By similarity). {ECO:0000250|UniProtKB:Q9XSG3, ECO:0000269|PubMed:10521434, ECO:0000269|PubMed:19935646, ECO:0000303|PubMed:10521434}.
uniprot
proteins
mass_dalton
46659
uniprot
proteins
post_translational_modification
PTM: Acetylation at Lys-374 dramatically reduces catalytic activity. {ECO:0000250}.
uniprot
proteins
protein_family
Isocitrate and isopropylmalate dehydrogenases family
uniprot
proteins
pubmed
10521434
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15173171
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18772396
uniprot
proteins
pubmed
19117336
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19935646
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26161668
uniprot
proteins
pubmed
9866202
uniprot
proteins
sequence_length
414
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10521434}. Peroxisome {ECO:0000269|PubMed:10521434}.
uniprot
proteins