• Gene id: 3417

Gene Summary

• Gene Symbol: IDH1   Gene   UCSC   Ensembl
• Aliases: HEL-216, HEL-S-26, IDCD, IDH, IDP, IDPC, PICD
• Gene name: isocitrate dehydrogenase (NADP(+)) 1, cytosolic
• Alternate names: isocitrate dehydrogenase [NADP] cytoplasmic, NADP(+)-specific ICDH, NADP-dependent isocitrate dehydrogenase, cytosolic, NADP-dependent isocitrate dehydrogenase, peroxisomal, epididymis luminal protein 216, epididymis secretory protein Li 26, isocitrate de,
• Gene location: 2q34 (208255142: 208236226)     Exons: 12     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 147700

SNPs

rs868256749

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63617303C>T
NC_000012.11   g.64011083C>T
NG_031909.1   g.56272G>A|SEQ=[C/T]|GENE=DPY19L2

rs751879424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000012.12   g.63617339del
NC_000012.11   g.64011119del
NG_031909.1   g.56236del
NM_173812.4   c.1183del
NM_173812.5   c.1183del
XM_011538218.3   c.172del
XR_001748666.2   n.1335del
XM_006719352.2   c.754del
XM_017019192.2   c.1033del
XM_017019203.2   c.238del
XM_0170  

rs587777206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63624101G>A
NC_000012.11   g.64017881G>A
NG_031909.1   g.49474C>T
NM_173812.4   c.892C>T
NM_173812.5   c.892C>T
XR_001748666.2   n.1044C>T
XM_006719352.2   c.463C>T
XM_017019193.2   c.589C>T
XM_011538215.2   c.379C>T
XR_002957317.1   n.1044C>T
XR_002957  

rs587777205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63569312T>A
NC_000012.12   g.63569312T>G
NC_000012.11   g.63963092T>A
NC_000012.11   g.63963092T>G
NG_031909.1   g.104263A>T
NG_031909.1   g.104263A>C
NM_173812.4   c.2038A>T
NM_173812.4   c.2038A>C
NM_173812.5   c.2038A>T
NM_173812.5   c.2038A>C
XM_011  

rs147579680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63624124C>T
NC_000012.11   g.64017904C>T
NG_031909.1   g.49451G>A
NM_173812.4   c.869G>A
NM_173812.5   c.869G>A
XR_001748666.2   n.1021G>A
XM_006719352.2   c.440G>A
XM_017019193.2   c.566G>A
XM_011538215.2   c.356G>A
XR_002957317.1   n.1021G>A
XR_002957  

Protein Summary

• Protein general information: O75874  
  • Name: Isocitrate dehydrogenase [NADP] cytoplasmic (IDH) (EC 1.1.1.42) (Cytosolic NADP isocitrate dehydrogenase) (IDP) (NADP(+) specific ICDH) (Oxalosuccinate decarboxylase)
  • Length: 414  
  • Mass: 46,659
• Sequence:

  MSKKISGGSVVEMQGDEMTRIIWELIKEKLIFPYVELDLHSYDLGIENRDATNDQVTKDAAEAIKKHNVGVKCAT
  ITPDEKRVEEFKLKQMWKSPNGTIRNILGGTVFREAIICKNIPRLVSGWVKPIIIGRHAYGDQYRATDFVVPGPG
  KVEITYTPSDGTQKVTYLVHNFEEGGGVAMGMYNQDKSIEDFAHSSFQMALSKGWPLYLSTKNTILKKYDGRFKD
  IFQEIYDKQYKSQFEAQKIWYEHRLIDDMVAQAMKSEGGFIWACKNYDGDVQSDSVAQGYGSLGMMTSVLVCPDG
  KTVEAEAAHGTVTRHYRMYQKGQETSTNPIASIFAWTRGLAHRAKLDNNKELAFFANALEEVSIETIEAGFMTKD
  LAACIKGLPNVQRSDYLNTFEFMDKLGENLKIKLAQAKL

• Structural information:
  • Interpro: IPR019818  IPR004790  IPR024084  
  • Prosite: PS00470
  • PDB: 1T09 1T0L 3INM 3MAP 3MAR 3MAS 4I3K 4I3L 4KZO 4L03 4L04 4L06 4UMX 4UMY 4XRX 4XS3 5DE1 5GIR 5K10 5K11 5L57 5L58 5LGE 5SUN 5SVF 5TQH 5YFM 5YFN 6B0Z
  • PDBsum: 1T09 1T0L 3INM 3MAP 3MAR 3MAS 4I3K 4I3L 4KZO 4L03 4L04 4L06 4UMX 4UMY 4XRX 4XS3 5DE1 5GIR 5K10 5K11 5L57 5L58 5LGE 5SUN 5SVF 5TQH 5YFM 5YFN 6B0Z
  • DIP: 59311
  • STRING: ENSP00000260985
• Other Databases: GeneCards:  IDH1  Malacards:  IDH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IDA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	EXP	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	EXP	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IDA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IDA	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006097	glyoxylate cycle	IEA	biological process
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0006102	isocitrate metabolic process	IDA	biological process
GO:0006102	isocitrate metabolic process	IDA	biological process
GO:0006102	isocitrate metabolic process	IDA	biological process
GO:0006103	2-oxoglutarate metabolic process	IDA	biological process
GO:0006103	2-oxoglutarate metabolic process	TAS	biological process
GO:0006740	NADPH regeneration	TAS	biological process
GO:0006749	glutathione metabolic process	IEA	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0008585	female gonad development	IEA	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0048545	response to steroid hormone	IEA	biological process
GO:0050661	NADP binding	IEA	molecular function
GO:0051287	NAD binding	IEA	molecular function
GO:0051990	(R)-2-hydroxyglutarate dehydrogenase activity	EXP	molecular function
GO:0060696	regulation of phospholipid catabolic process	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071071	regulation of phospholipid biosynthetic process	IEA	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0004448	isocitrate dehydrogenase activity	IEA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IEA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IEA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IEA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IDA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	EXP	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	EXP	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IDA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IDA	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006097	glyoxylate cycle	IEA	biological process
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0006102	isocitrate metabolic process	IEA	biological process
GO:0006102	isocitrate metabolic process	IEA	biological process
GO:0006102	isocitrate metabolic process	IDA	biological process
GO:0006102	isocitrate metabolic process	IDA	biological process
GO:0006102	isocitrate metabolic process	IDA	biological process
GO:0006103	2-oxoglutarate metabolic process	IDA	biological process
GO:0006103	2-oxoglutarate metabolic process	TAS	biological process
GO:0006740	NADPH regeneration	TAS	biological process
GO:0006749	glutathione metabolic process	IEA	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0008585	female gonad development	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0048545	response to steroid hormone	IEA	biological process
GO:0050661	NADP binding	IEA	molecular function
GO:0051287	NAD binding	IEA	molecular function
GO:0051990	(R)-2-hydroxyglutarate dehydrogenase activity	EXP	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060696	regulation of phospholipid catabolic process	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071071	regulation of phospholipid biosynthetic process	IEA	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IDA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	EXP	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	EXP	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IDA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IDA	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006102	isocitrate metabolic process	IDA	biological process
GO:0006102	isocitrate metabolic process	IDA	biological process
GO:0006102	isocitrate metabolic process	IDA	biological process
GO:0006103	2-oxoglutarate metabolic process	IDA	biological process
GO:0006103	2-oxoglutarate metabolic process	TAS	biological process
GO:0006740	NADPH regeneration	TAS	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0051990	(R)-2-hydroxyglutarate dehydrogenase activity	EXP	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01210	2-Oxocarboxylic acid metabolism
hsa01230	Biosynthesis of amino acids
hsa04146	Peroxisome
hsa05230	Central carbon metabolism in cancer

Diseases

Associated diseases	References
Cancer	GAD: 19411854
Cancer (pancreatic)	GAD: 19351817
Cancer (leukemia)	GAD: 20376086
Cancer (brain)	GAD: 19378339
Astrocytoma	GAD: 19246647
Cancer (glioblastoma)	GAD: 20560678
Glioma	OMIM: 147700
Cancer (Adenoma)	GAD: 20702649
Cancer (lymphoma)	GAD: 20667415
Cleft defects	GAD: 20634891
Myelodysplastic syndrome	KEGG: H01481
Hematologic diseases	GAD: 20538800
Male factor infertility	MIK: 18058805
Azoospermia	MIK: 18058805
Azoospermia	MIK: 18058805
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18058805	Azoospermia				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)