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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IDH1 Gene

protein-coding GIFtS: 70
GCID: GC02M209100

isocitrate dehydrogenase 1 (NADP+), soluble

Explore 57 diseases affiliated with
IDH1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Isocitrate Dehydrogenase 1 (NADP+), Soluble¹ ²		IDCD²
Oxalosuccinate Decarboxylase² ³		IDPC²
IDH² ³		Isocitrate Dehydrogenase [NADP] Cytoplasmic²
IDP² ³		NADP-Dependent Isocitrate Dehydrogenase, Cytosolic²
PICD² ³		NADP-Dependent Isocitrate Dehydrogenase, Peroxisomal²
NADP(+)-Specific ICDH² ³		Cytosolic NADP-Isocitrate Dehydrogenase³
EC 1.1.1.42³ ⁸

External Ids:	HGNC: 5382¹	Entrez Gene: 3417²	Ensembl: ENSG00000138413⁷	OMIM: 147700⁵	UniProtKB: O75874³

Export aliases for IDH1 gene to outside databases

Previous GC identifers: GC02M207376 GC02M207825 GC02M209064 GC02M209303 GC02M208926 GC02M208809 GC02M200949

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IDH1:

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. (provided by RefSeq, Jul 2008)

Gene Wiki entry for IDH1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the IDH1 gene promoter:
STAT5B Pax-5 HOXA3 MIF-1 Evi-1 C/EBPalpha GATA-1 CHOP-10 ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): IDH1 promoter sequence

Search SABiosciences Chromatin IP Primers for IDH1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IDH1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33.3 Ensembl cytogenetic band: 2q34 HGNC cytogenetic band: 2q32-qter

IDH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IDH1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M209100: view genomic region (about GC identifiers)

Start:	209,100,951 bp from pter	End:	209,130,798 bp from pter
Size:	29,848 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IDHC_HUMAN, O75874 (See protein sequence)

Recommended Name: Isocitrate dehydrogenase [NADP] cytoplasmic

Size: 414 amino acids; 46659 Da

Cofactor: Binds 1 magnesium or manganese ion per subunit

Subunit: Homodimer

Subcellular location: Cytoplasm. Peroxisome

6 PDB 3D structures from and Proteopedia for IDH1:

1T09 (3D)

1T0L (3D)

3INM (3D)

3MAP (3D)

3MAR (3D)

3MAS (3D)

Secondary accessions: Q7Z3V0 Q93090 Q9NTJ9 Q9UKW8

Explore the universe of human proteins at neXtProt for IDH1: NX_O75874

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75874

4/19 DME Specific Peptides for IDH1 (O75874) (see all 19)

EAAHGTV

IASIFAW

HGTVTRH

GDQYRAT

IDH1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005887.2

ENSEMBL proteins:

ENSP00000260985 ENSP00000410513 ENSP00000390265 ENSP00000391075 ENSP00000409045

ENSP00000396787

Reactome Protein details: O75874
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	Uscn Proteins for IDH1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IEA	--
GO:0005777	peroxisome	IDA	10521434
GO:0005782	peroxisomal matrix	TAS	--
GO:0005829	cytosol	TAS	--

IDH1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for IDH1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

IDH1 for domains About GeneDecksing

3 InterPro domains/families:

IPR004790 Isocitrate_DH_NADP

IPR019818 IsoCit/isopropylmalate_DH_CS

IPR024084 IsoPropMal-DH-like_dom

Graphical View of Domain Structure for InterPro Entry O75874

ProtoNet protein and cluster: O75874

1 Blocks protein family: IPB001804 Isocitrate/isopropylmalate dehydrogenase

UniProtKB/Swiss-Prot: IDHC_HUMAN, O75874

Similarity: Belongs to the isocitrate and isopropylmalate dehydrogenases family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: IDHC_HUMAN, O75874

Catalytic activity: Isocitrate + NADP(+) = 2-oxoglutarate + CO(2) + NADPH

Biophysicochemical properties: Kinetic parameters: KM=49 uM for NADP; KM=29 uM for magnesium chloride; KM=65 uM for

isocitrate;

Genatlas biochemistry entry for IDH1:

isocitrate dehydrogenase 1,cytosolic,NADPH dependent,third step of citric acid cycle

Enzyme Number (IUBMB): EC 1.1.1.42¹ ²

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IDH1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000287	magnesium ion binding	IDA	19935646
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IDA	10521434
GO:0005102	receptor binding	IPI	--
GO:0042803	protein homodimerization activity	IPI	19935646
GO:0050661	NADP binding	IEA	--

IDH1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for IDH1:

Decreased p24 protein expressi

Animal Models:
3 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Idh1):

hematopoietic system

homeostasis/metabolism

immune system

IDH1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Peroxisomal lipid metabolism

	Peroxisomal lipid metabolism	1.00			Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate	0.05
	NADPH regeneration	0.05

Glutathione metabolism

Glutathione metabolism

0.70

Glutathione metabolism

0.44

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

Disease

Disease

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for IDH1

Glucose / Energy Metabolism

1 BioSystems Pathway for IDH1

Glutathione metabolism

5/6 Reactome Pathways for IDH1 (see all 6)

	NADPH regeneration
	Metabolism
	Peroxisomal lipid metabolism
	Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate
	Disease

4 Kegg Pathways (Kegg details for IDH1):

	Citrate cycle (TCA cycle)
	Glutathione metabolism
	Metabolic pathways
	Peroxisome

IDH1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for IDH1

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/61 Interacting proteins for IDH1 (O75874^{2, 3} ENSP00000260985⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ZHX1	Q9UKY1³, ENSP00000297857⁴	I2D: score=5 STRING: ENSP00000297857
ASL	P04424³, ENSP00000307188⁴	I2D: score=1 STRING: ENSP00000307188
FH	P07954³, ENSP00000355518⁴	I2D: score=1 STRING: ENSP00000355518
IDH3G	P51553³, ENSP00000217901⁴	I2D: score=1 STRING: ENSP00000217901
SUMO4	Q6EEV6³, ENSP00000318635⁴	I2D: score=1 STRING: ENSP00000318635

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

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	10521434
GO:0006103	2-oxoglutarate metabolic process	TAS	--
GO:0006740	NADPH regeneration	TAS	--

IDH1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

IDH1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IDH1

8 HMDB Compounds for IDH1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
Isocitric acid	1-Hydroxy-1,2,3-propanetricarboxylate (see all 15)	320-77-4	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Manganese	manganese	7439-96-5	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--
Oxalosuccinic acid	Oxalosuccinate (see all 2)	1948-82-9	--
Oxoglutaric acid	2-Ketoglutarate (see all 9)	328-50-7	--

2 DrugBank Compounds for IDH1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
2'-Monophosphoadenosine 5'-Diphosphoribose	--	--	target	--	17139284 17016423
Isocitric Acid	--	320-77-4	target	--	17139284 17016423

10/14 Novoseek chemical compound relationships for IDH1 gene (see all 14) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
isocitrate	96.2	105	11284679 (2), 19935646 (2), 20142433 (2), 19636000 (2) (see all 55)
2-hydroxyglutarate	87.9	14	20171147 (4), 20127344 (1), 19935646 (1), 20142433 (1) (see all 5)
alpha-ketoglutarate	75.4	17	10521434 (2), 19935646 (2), 11912232 (1), 19359588 (1) (see all 8)
nadp+	62.1	6	9512021 (3), 10521434 (1), 17029707 (1)
glucose 6-phosphate	51.9	5	10521434 (1), 16143603 (1), 8660340 (1), 12232660 (1)
nadph	46.4	28	20127344 (5), 9512021 (3), 10521434 (2), 8987537 (1) (see all 6)
malate	46.4	1	8959151 (1)
nicotinamide	33.2	1	9220992 (1)
glyceraldehyde 3-phosphate	24.4	2	8660340 (1), 15355353 (1)
adenine	19.5	1	9211842 (1)

Search CenterWatch for drugs/clinical trials and news about IDH1 / IDHC

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for IDH1 gene:

NM_005896.2

Unigene Cluster for IDH1:

Isocitrate dehydrogenase 1 (NADP+), soluble

Hs.593422 [show with all ESTs]

Unigene Representative Sequence: AF020038

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000345146(uc002vcu.3) ENST00000446179(uc002vct.3) ENST00000415913(uc002vcs.3)

ENST00000484575 ENST00000415282 ENST00000462386 ENST00000417583 ENST00000451391

ENST00000481557

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Additional cDNA sequence:

AF020038.1 AF113917.1 AK125247.1 AK302105.1 AK312242.1 AL136702.1 BC012846.1 BC021046.1

BC093020.1 BX537411.1 CR533522.1 CR536499.1 CR541695.1 U62389.1

24/32 DOTS entries (see all 32):

DT.100845600 DT.91776646 DT.219513 DT.120999209 DT.100766638 DT.120999216 DT.95162526 DT.437002

DT.100845598 DT.120999211 DT.99944670 DT.91776651 DT.95162531 DT.91698485 DT.100735322 DT.102830286

DT.95075652 DT.120999132 DT.97809111 DT.120999133 DT.120999159 DT.95162499 DT.95162529 DT.107236

24/528 AceView cDNA sequences (see all 528):

BU175678 AU125408 AA327670 CB130734 BM820158 AA313574 AA883770 BQ432452

AI824349 NM_005896 BF445518 CB131590 BQ948777 F06739 CR594054 BM542992

BQ716989 N67736 BM799758 CD557251 T34971 AA450117 BQ430298 AA827594

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for IDH1 (see all 8) About this scheme

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:											-		-

ECgene alternative splicing isoforms for IDH1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IDH1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTGGAACGA

About this image

IDH1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Sertoli cells

Testis

Bone

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

See IDH1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IDH1

SOURCE GeneReport for Unigene cluster: Hs.593422

SABiosciences Expression via Pathway-Focused PCR Arrays including IDH1:

Nephrotoxicity in human mouse rat

Oxidative Stress in human mouse rat

Nitric Oxide Signaling Pathway in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Glucose Metabolism in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for IDH1 gene from 9/35 species (see all 35) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	IDH1¹	isocitrate dehydrogenase 1 (NADP+), soluble	80(n) 90(a)		424112 XM_421965.3 XP_421965.2
lizard (Anolis carolinensis)	Reptilia	IDH1⁶	--	88(a)	1 ↔ 1	4(90492018-90513206)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.17063²	Transcribed sequence with moderate similarity to protein more	81.22(n)		BX708884.1
zebrafish (Danio rerio)	Actinopterygii	zgc66318²	Danio rerio mRNA similar to isocitrate dehydrogenase more	76.82(n)		BC046894.1
fruit fly (Drosophila melanogaster)	Insecta	Idh¹	Isocitrate dehydrogenase	67.56(n) 72.62(a)		44291 NM_143787.2 NP_652044.1
worm (Caenorhabditis elegans)	Secernentea	F59B8.2³ idh-1¹	isocitrate dehydrogenase³ Protein IDH-1¹	74(a) (best of 2)³ 67.24(n)¹ 76.17(a)¹		IV(9439443-9440945)³ 177775¹ NM_069264.4¹ NP_501665.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	IDP1(YDL066W)⁴ IDP2¹	Mitochondrial NADP-specific isocitrate dehydrogenase, more⁴ Idp2p¹	60.1(n)¹ 61.31(a)¹		4(334835-336121)⁴ 850871¹ NP_013275.1¹ 851493⁴ NP_010217.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	cICDH¹	isocitrate dehydrogenase	63.48(n) 68.26(a)		842905 NM_105265.4 NP_176768.1
rice (Oryza sativa)	Liliopsida	Os01g0654500¹	hypothetical protein	64.16(n) 68.92(a)		4324176 NM_001050284.1 NP_001043749.1

ENSEMBL Gene Tree for IDH1 (if available)
TreeFam Gene Tree for IDH1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for IDH1 gene

IDH2²

1 SIMAP similar gene for IDH1 using alignment to 10 protein entries: IDHC_HUMAN (see all proteins):

IDH2

IDH1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for IDH1
PGOHUM00000243057

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121913499^1,2	C	other	200961180(-)	`TAGGTA/C/TGTCAT`	3	S R C	mis¹		0	--	--	--	--
rs11888463^1,2	C,F,H,	--	200948678(+)	`ATCCAT/CTTTTT`	1	--	ds500¹		5		NA WA	264
rs4505462^1,2	H	--	200948824(+)	`ATTCTC/ATAATA`	1	--	ds500¹		4		NS EA	420
rs16841606^1,2	C,	--	200949229(+)	`AAAGAG/CAAAAA`	1	--	ut3¹ trp³		3		NA	142
rs1044416^1,2	C,F,	--	200949533(-)	`TGATAG/ACCACA`	1	--	ut3¹ ese³		3		NA CSA	9
rs78539882^1,2	C,F,	--	200949715(+)	`ATAAGA/GAAAAG`	1	--	ut3¹		1		WA	118
rs3778^1,2	H	--	200949869(-)	`CTTTAA/CGTTCA`	2	* Y	--		5		MN NS EA	600
rs111539830^1,2	C,	--	200950929(+)	`GTTCAC/TGCCAT`	1	--	int¹		1		NA	2
rs113664044^1,2		--	200951004(+)	`TTTGTC/ATTTTT`	1	--	int¹		1		CSA	2
rs10170549^1,2	C,F,H,	--	200951526(+)	`GATGGG/AATgtc`	1	--	int¹		5		NS EA WA	536

HapMap Linkage Disequilibrium report for IDH1 (209100951 - 209130798 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for IDH1: --
Human Gene Mutation Database (HGMD): IDH1

5 SABiosciences Cancer Mutation PCR Assays for IDH1:

Cosmic Id	AA Change
28747	p.R132C
28748	p.R132S
28746	p.R132H
28749	p.R132G
28750	p.R132L

5/8 SABiosciences Cancer Mutation PCR Arrays containing IDH1 (see all 8):

Hematopoietic Neoplasms

Cancer Comprehensive Panel 384HT

Oncogene Panel 384HT

Myelodysplastic Syndromes

Brain Cancers

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IDH1

DNA2.0 Custom Variant and Variant Library Synthesis for IDH1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

IDH1 for disorders About GeneDecksing

OMIM gene information: 147700 OMIM disorders: --

UniProtKB/Swiss-Prot: IDHC_HUMAN, O75874

Defects in IDH1 are involved in the development of glioma (GLM) [MIM:137800]. Gliomas are central nervous

system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, and

ependymomas. Note=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

20/57 diseases for IDH1 (see all 57): About MalaCards

d-2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria li-fraumeni syndrome sertoli cell-only syndrome

supratentorial primitive neuroectodermal tumor primitive neuroectodermal tumor gliomatosis cerebri spindle cell hemangioma

pilocytic astrocytoma non-hodgkin lymphoma neuroectodermal tumors polycythemia vera

essential thrombocythemia urinary bladder cancer enchondroma oligoastrocytoma

ollier disease hodgkin's lymphoma chondroma astrocytoma

4 diseases from the University of Copenhagen DISEASES database for IDH1:

Malignant glioma Acute myeloid leukemia D-2-hydroxyglutaric aciduria Brain cancer

8 Novoseek disease relationships for IDH1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
oligodendroglioma	76.8	14	19246647 (3), 18985363 (2), 19554337 (2), 19915484 (1) (see all 8)
glioma	73.1	66	20077503 (6), 19765000 (6), 19636000 (5), 20131059 (4) (see all 21)
glioblastoma	69.9	49	20127344 (8), 18985363 (4), 19246647 (3), 19765000 (3) (see all 10)
astrocytoma	61.2	12	19246647 (3), 18985363 (2), 19554337 (2), 19915484 (1) (see all 7)
pilocytic astrocytoma	59.6	1	18985363 (1), 19667985 (1)
somatic mutations	43.5	4	20127344 (1), 19554337 (1), 19228619 (1), 19117336 (1) (see all 5)
tumors	10.2	26	19228619 (4), 19359588 (4), 19554337 (2), 19117336 (2) (see all 12)
cancer	0	2	20129244 (1), 20368543 (1)

Human Genome Epidemiology (HuGE) Navigator: IDH1 (55 documents)

Export disorders for IDH1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for IDH1 gene, integrated from 9 sources (see all 278):
(articles sorted by number of sources associating them with IDH1)

Utopia: connect your pdf to the dynamic
world of online information

The human PICD gene encodes a cytoplasmic and peroxisomal NADP(+)- dependent isocitrate dehydrogenase. (PubMed id 10521434)^{1, 2, 9} Geisbrecht B.V. and Gould S.J. (1999)
IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (PubMed id 19117336)^{1, 2, 9} Bleeker F.E....Bardelli A. (2009)
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. (PubMed id 19935646)^{1, 2, 9} Dang L....Su S.M. (2009)
An integrated genomic analysis of human glioblastoma multiforme. (PubMed id 18772396)^{1, 2, 9} Parsons D.W.... Kinzler K.W. (2008)
Structures of human cytosolic NADP-dependent isocitrate dehydrogenase reveal a novel self-regulatory mechanism of activity. (PubMed id 15173171)^{1, 2, 9} Xu X.... Ding J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{1, 2} Wiemann S.... Poustka A. (2001)
Cytosolic isocitrate dehydrogenase in humans, mice, and voles and phylogenetic analysis of the enzyme family. (PubMed id 9866202)^{1, 2} Nekrutenko A.... Baker R.J. (1998)
The prognostic IDH1( R132 ) mutation is associated wi th reduced NADP+-dependent IDH activity in glioblastoma. (PubMed id 20127344)^{1, 9} Bleeker F.E....Van Noorden C.J. (2010)
Analysis of IDH1 and IDH2 mutations in Japanese gliom a patients. (PubMed id 19765000)^{1, 9} Sonoda Y....Tominaga T. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3417	HGNC: 5382	AceView: IDH1	Ensembl:ENSG00000138413	euGenes: HUgn3417
ECgene: IDH1	Kegg: 3417	H-InvDB: IDH1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for IDH1	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Isocitrate_dehydrogenase

Intellectual Property for IDH1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for IDH1 gene:
Search GeneIP for patents involving IDH1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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isocitrate dehydrogenase 1 (NADP+), soluble

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