Human Gene IDH1 (ENST00000345146.7_6) from GENCODE V47lift37
  Description: isocitrate dehydrogenase (NADP(+)) 1, transcript variant 1 (from RefSeq NM_005896.4)
Gencode Transcript: ENST00000345146.7_6
Gencode Gene: ENSG00000138413.14_12
Transcript (Including UTRs)
   Position: hg19 chr2:209,100,953-209,119,795 Size: 18,843 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr2:209,101,803-209,116,275 Size: 14,473 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:209,100,953-209,119,795)mRNA (may differ from genome)Protein (414 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IDHC_HUMAN
DESCRIPTION: RecName: Full=Isocitrate dehydrogenase [NADP] cytoplasmic; Short=IDH; EC=1.1.1.42; AltName: Full=Cytosolic NADP-isocitrate dehydrogenase; AltName: Full=IDP; AltName: Full=NADP(+)-specific ICDH; AltName: Full=Oxalosuccinate decarboxylase;
CATALYTIC ACTIVITY: Isocitrate + NADP(+) = 2-oxoglutarate + CO(2) + NADPH.
COFACTOR: Binds 1 magnesium or manganese ion per subunit.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=49 uM for NADP; KM=29 uM for magnesium chloride; KM=65 uM for isocitrate;
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Cytoplasm. Peroxisome.
DISEASE: 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.
SIMILARITY: Belongs to the isocitrate and isopropylmalate dehydrogenases family.
WEB RESOURCE: Name=Wikipedia; Note=Isocitrate dehydrogenase entry; URL="http://en.wikipedia.org/wiki/Isocitrate_dehydrogenase";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IDH1
Diseases sorted by gene-association score: glioma susceptibility 1* (460), metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria* (350), multiple enchondromatosis, maffucci type* (259), enchondromatosis, multiple, ollier type* (211), leukemia, acute myeloid* (123), acute myeloid leukemia, flt3-related* (115), astrocytoma (45), enchondroma (27), glioma (24), intracranial chondrosarcoma (23), spindle cell hemangioma (23), glioblastoma (21), dysembryoplastic neuroepithelial tumor (16), chondroblastic osteosarcoma (15), gliomatosis cerebri (14), intrahepatic cholangiocarcinoma (14), oligodendroglioma (13), extraventricular neurocytoma (13), chondrosarcoma (13), giant cell glioblastoma* (13), fibrillary astrocytoma (12), d-2-hydroxyglutaric aciduria (12), pleomorphic xanthoastrocytoma (12), pilocytic astrocytoma (12), interval angle-closure glaucoma (11), periosteal chondrosarcoma (11), 2-hydroxyglutaric aciduria (11), angiocentric glioma (10), gliosarcoma* (9), pilocytic astrocytoma of cerebellum (9), adult oligodendroglioma (9), glioblastoma multiforme (9), intraductal papilloma (9), anaplastic oligodendroglioma (8), papillary glioneuronal tumor (8), childhood oligodendroglioma (8), cerebellar astrocytoma (7), bile duct adenocarcinoma (7), adult astrocytic tumour (7), brain cancer (7), periosteal osteogenic sarcoma (7), cytogenetically normal acute myeloid leukemia (7), mixed glioma (6), cerebellopontine angle tumor (6), spinal cord astrocytoma (5), esophageal atresia/tracheoesophageal fistula (5), diffuse infiltrative lymphocytosis syndrome (5), li-fraumeni syndrome (4), adult medulloblastoma (4), drug-induced mental disorder (4), drug psychosis (4), breast papillary carcinoma (4), peripheral osteosarcoma (4), essential thrombocythemia (2), cell type cancer (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 145.72 RPKM in Adrenal Gland
Total median expression: 1048.32 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -76.50223-0.343 Picture PostScript Text
3' UTR -188.30850-0.222 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019818 - IsoCit/isopropylmalate_DH_CS
IPR004790 - Isocitrate_DH_NADP
IPR024084 - IsoPropMal-DH-like_dom

Pfam Domains:
PF00180 - Isocitrate/isopropylmalate dehydrogenase

SCOP Domains:
53659 - Isocitrate/Isopropylmalate dehydrogenase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1T09 - X-ray MuPIT 1T0L - X-ray MuPIT 3INM - X-ray MuPIT 3MAP - X-ray MuPIT 3MAR - X-ray MuPIT 3MAS - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O75874
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000287 magnesium ion binding
GO:0004448 isocitrate dehydrogenase activity
GO:0004450 isocitrate dehydrogenase (NADP+) activity
GO:0005102 receptor binding
GO:0016491 oxidoreductase activity
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0045296 cadherin binding
GO:0046872 metal ion binding
GO:0050661 NADP binding
GO:0051287 NAD binding
GO:0051990 (R)-2-hydroxyglutarate dehydrogenase activity

Biological Process:
GO:0006097 glyoxylate cycle
GO:0006099 tricarboxylic acid cycle
GO:0006102 isocitrate metabolic process
GO:0006103 2-oxoglutarate metabolic process
GO:0006625 protein targeting to peroxisome
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:0043312 neutrophil degranulation
GO:0048545 response to steroid hormone
GO:0055114 oxidation-reduction process
GO:0060696 regulation of phospholipid catabolic process
GO:0071071 regulation of phospholipid biosynthetic process

Cellular Component:
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005782 peroxisomal matrix
GO:0005829 cytosol
GO:0034774 secretory granule lumen
GO:0070062 extracellular exosome
GO:1904724 tertiary granule lumen
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  BC065703 - Homo sapiens cDNA clone IMAGE:6192923, **** WARNING: chimeric clone ****.
BC021046 - Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble, mRNA (cDNA clone IMAGE:2966588).
AL136702 - Homo sapiens mRNA; cDNA DKFZp566J151 (from clone DKFZp566J151).
BC093020 - Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble, mRNA (cDNA clone MGC:110907 IMAGE:30528912), complete cds.
AF020038 - Homo sapiens NADP-dependent isocitrate dehydrogenase (IDH) mRNA, complete cds.
EU794623 - Homo sapiens epididymis secretory protein Li 26 (HEL-S-26) mRNA, complete cds.
BX537411 - Homo sapiens mRNA; cDNA DKFZp686M0959 (from clone DKFZp686M0959); complete cds.
FJ224342 - Homo sapiens epididymis luminal protein 216 (HEL-216) mRNA, complete cds.
GQ900959 - Homo sapiens clone HEL-T-71 epididymis secretory sperm binding protein mRNA, complete cds.
AF113917 - Homo sapiens NADP+-dependent isocitrate dehydrogenase (PICD) mRNA, complete cds.
BC012846 - Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble, mRNA (cDNA clone MGC:21176 IMAGE:3880331), complete cds.
JD259955 - Sequence 240979 from Patent EP1572962.
JD566704 - Sequence 547728 from Patent EP1572962.
JD359749 - Sequence 340773 from Patent EP1572962.
JD120324 - Sequence 101348 from Patent EP1572962.
JD525276 - Sequence 506300 from Patent EP1572962.
JD132640 - Sequence 113664 from Patent EP1572962.
JD254262 - Sequence 235286 from Patent EP1572962.
JD083906 - Sequence 64930 from Patent EP1572962.
JD224987 - Sequence 206011 from Patent EP1572962.
JD496118 - Sequence 477142 from Patent EP1572962.
JD136451 - Sequence 117475 from Patent EP1572962.
JD503127 - Sequence 484151 from Patent EP1572962.
JD491328 - Sequence 472352 from Patent EP1572962.
JD148618 - Sequence 129642 from Patent EP1572962.
CR533522 - Homo sapiens full open reading frame cDNA clone RZPDo834C1219D for gene IDH1, isocitrate dehydrogenase 1 (NADP+), soluble; complete cds, incl. stopcodon.
JD331389 - Sequence 312413 from Patent EP1572962.
JD235254 - Sequence 216278 from Patent EP1572962.
AK302105 - Homo sapiens cDNA FLJ57227 complete cds, highly similar to Isocitrate dehydrogenase [NADP] cytoplasmic (EC 1.1.1.42).
JD563663 - Sequence 544687 from Patent EP1572962.
CR536499 - Homo sapiens full open reading frame cDNA clone RZPDo834C0620D for gene IDH1, isocitrate dehydrogenase 1 (NADP+), soluble; complete cds, incl. stopcodon.
AK312242 - Homo sapiens cDNA, FLJ92536, highly similar to Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.
DQ891435 - Synthetic construct clone IMAGE:100004065; FLH176913.01X; RZPDo839A11124D isocitrate dehydrogenase 1 (NADP+), soluble (IDH1) gene, encodes complete protein.
EU176595 - Synthetic construct Homo sapiens clone IMAGE:100011623; FLH263912.01L; RZPDo839C06246D isocitrate dehydrogenase 1 (NADP+), soluble (IDH1) gene, encodes complete protein.
AB528827 - Synthetic construct DNA, clone: pF1KE0433, Homo sapiens IDH1 gene for isocitrate dehydrogenase 1 (NADP+), soluble, without stop codon, in Flexi system.
AM392584 - Synthetic construct Homo sapiens clone IMAGE:100001996 for hypothetical protein (IDH1 gene).
AM392612 - Synthetic construct Homo sapiens clone IMAGE:100001779 for hypothetical protein (IDH1 gene).
AM393191 - Synthetic construct Homo sapiens clone IMAGE:100001955 for hypothetical protein (IDH1 gene).
CR541695 - Homo sapiens full open reading frame cDNA clone RZPDo834G0228D for gene IDH1, isocitrate dehydrogenase 1 (NADP+), soluble; complete cds, without stopcodon.
DQ403082 - Homo sapiens isocitrate dehydrogenase 1 (IDH1) mRNA, partial cds.
U62389 - Human putative cytosolic NADP-dependent isocitrate dehydrogenase mRNA, partial cds.
JD291864 - Sequence 272888 from Patent EP1572962.
JD022798 - Sequence 3822 from Patent EP1572962.
JD108142 - Sequence 89166 from Patent EP1572962.
JD034395 - Sequence 15419 from Patent EP1572962.
JD066488 - Sequence 47512 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75874 (Reactome details) participates in the following event(s):

R-HSA-9033233 PEX5S,L binds cargo proteins containing PTS1
R-HSA-6798745 Exocytosis of tertiary granule lumen proteins
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-389550 isocitrate + NADP+ => 2-oxoglutarate + CO2 + NADPH + H+
R-HSA-389540 isocitrate + NADP+ => 2-oxoglutarate + CO2 + NADPH + H+
R-HSA-9033236 PEX5S,L:Cargo binds PEX13:PEX14 of PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Complex)
R-HSA-880053 2-oxoglutarate + NADPH + H+ => (R)-2-hydroxyglutarate + NADP+ [mutant IDH1]
R-HSA-9033241 Peroxisomal protein import
R-HSA-6798695 Neutrophil degranulation
R-HSA-389542 NADPH regeneration
R-HSA-392499 Metabolism of proteins
R-HSA-168249 Innate Immune System
R-HSA-8978934 Metabolism of cofactors
R-HSA-2978092 Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate
R-HSA-168256 Immune System
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-5668914 Diseases of metabolism
R-HSA-1430728 Metabolism
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000345146.1, ENST00000345146.2, ENST00000345146.3, ENST00000345146.4, ENST00000345146.5, ENST00000345146.6, IDHC_HUMAN, NM_005896, O75874, PICD, Q567U4, Q6FHQ6, Q7Z3V0, Q93090, Q9NTJ9, Q9UKW8, uc317xeq.1, uc317xeq.2
UCSC ID: ENST00000345146.7_6
RefSeq Accession: NM_005896.4
Protein: O75874 (aka IDHC_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.