InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IDH1

Summary

InnateDB Protein

IDBP-388640.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IDH1

Protein Name

isocitrate dehydrogenase 1 (NADP+), soluble

Synonyms

HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC; PICD;

Species

Homo sapiens

Ensembl Protein

ENSP00000390265

InnateDB Gene

IDBG-79725 (IDH1)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:10521434}. Peroxisome {ECO:0000269PubMed:10521434}.

Disease Associations

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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.

Experimentally validated
Total	39 [view]
Protein-Protein	38 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000287	magnesium ion binding
GO:0004450	isocitrate dehydrogenase (NADP+) activity
GO:0005102	receptor binding
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0042803	protein homodimerization activity
GO:0050661	NADP binding
GO:0051287	NAD binding

Biological Process

GO:0006097	glyoxylate cycle
GO:0006099	tricarboxylic acid cycle
GO:0006102	isocitrate metabolic process
GO:0006103	2-oxoglutarate metabolic process
GO:0006740	NADPH regeneration
GO:0006749	glutathione metabolic process
GO:0006979	response to oxidative stress
GO:0008585	female gonad development
GO:0014070	response to organic cyclic compound
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process
GO:0048545	response to steroid hormone
GO:0055114	oxidation-reduction process