IDHC_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
IDH1
, PICD
Protein names and data:
IDHC_HUMAN
, Isocitrate dehydrogenase [NADP] cytoplasmic; IDH; 1.1.1.42
, Cytosolic NADP-isocitrate dehydrogenase; IDP; NADP(+)-specific ICDH; Oxalosuccinate decarboxylase
Lenght: 414 a.a.
Mass: 46659 Da
fasta formatted sequence
Catalytic activity:
Isocitrate + NADP(+) = 2-oxoglutarate + CO(2) + NADPH.
Disease:
( OMIM:
137800
147700
)
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. 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.
Cellular location:
Cytoplasm. Peroxisome.
Genetic variants
132 - 132
R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). VAR_036013
132 - 132
R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). VAR_055454
132 - 132
R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). VAR_055455
132 - 132
R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). VAR_055456
132 - 132
R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). VAR_055457
178 - 178
V -> I (in dbSNP:rs34218846). VAR_049780
34218846
Database cross-references
UniProt:
O75874
Ensembl:
ENST00000345146
Ensembl:
ENST00000415913
Ensembl:
ENST00000446179
MIM:
137800
MIM:
147700
neXtProt:
NX_O75874
Antibodypedia:
O75874
(may not find the protein thus also not any antibody)
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