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FLASH GENE

Symbol

IDH1

contributors: np/mct - updated : 30-05-2014

HGNC name	isocitrate dehydrogenase 1 (NADP+), soluble
HGNC id	5382

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2q34      Physical location : 209.100.953 - 209.119.806
Synonym name	NADP-dependent isocitrate dehydrogenase, cytosolic
	NADP-dependent isocitrate dehydrogenase, peroxisomal
	oxalosuccinate decarboxylase
	cytosolic NADP-isocitrate dehydrogenase
	NADP(+)-specific ICDH
	peroxisomal isocitrate dehydrogenase
Synonym symbol(s)	IDP, PICD, IDH, IDCD, IDPC
EC.number	1.1.1.42

DNA

TYPE	functioning gene
STRUCTURE	18.85 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005896 10 - 2339 NP_005887 46.5 414 - 1998 9866202

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Nervous nerve cranial nerve optic nerve     Urinary bladder       highly Visual eye anterior segment cornea   lowly   eye lens         eye retina         eye anterior segment iris

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

interspecies	homolog to murine Idh1 (95.4pc)
	homolog to rattus Idh1 (96.4pc)

Homologene

FAMILY

isocitrate and isopropylmalate dehydrogenases family

CATEGORY

enzyme , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,peroxisome
	intracellular,cytoplasm,cytosolic

basic FUNCTION	third step of citric acid cycle, catalyzing the oxidative decarboxylation of isocitrate to 2-oxoglutarate
	believed to control flux through the tricarboxylic acid cycle
	important physiological role for its allosteric activation during changes in environmental conditions )
	may be a tumor suppressor that, when mutationally inactivated, contributes to tumorigenesis in part through induction of the HIF-1 pathway
	may have roles in the regeneration of NADPH for intraperoxisomal reductions, as well as peroxisomal reaction that consume 2-oxoglutarate
	cytoplasmic enzyme having a role in cytoplasmic NADPH production
	playing an important role in the control of glucose-stimulated insulin-secretion
	IDH1 and IDH2 mutation impairs histone demethylation and results in a block to cell differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	binding one Mg2+ or one Mn2+ ion per subunit

protein

cell & other

REGULATION

activated by

SREBF1 and SREBF2

Other

activity regulated with the cholesterol and fatty acid biosynthetic patways

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       IDH1 mutations result in production of the onco-metabolite 2HG, contributing to the formation and malignant progression of gliomas tumoral somatic mutation   --low   downregulated in late-stage bladder cancers tumoral somatic mutation     loss of function homozygous G367A mutation in a case of anaplastic thyroid cancer resulting in a decreased enzymatic activity tumoral somatic mutation       heterozygous mutations occur in the majority of grade II and grade III gliomas and secondary glioblastomas tumoral somatic mutation       IDH1R132 may significantly add information regarding characterization and prognostication in acute myeloid leukemia tumoral somatic mutation       R132C substitution in enchondromatosis, Ollier disease and Maffucci disease ( tumoral somatic mutation       R132H substitution in enchondromatosis, Ollier and Mafucci type tumoral somatic mutation       in chondrosarcoma tumoral somatic mutation       in giant cell tumor of bone

Susceptibility

to familial early-onset generalised osteoarthritis

Variant & Polymorphism SNP	increasing the risk of familial early-onset generalised osteoarthritis

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed metabolism amino acids   inhibiting endogenous IDH1/2 activity could be a novel medication for D2HA patients cancer endocrine thyroid potential tumorigenic role of IDH1 that could be a new therapeutic target for thyroid cancers

ANIMAL & CELL MODELS