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IDH1 (isocitrate dehydrogenase 1 (NADP+), soluble)

Identity

Other namesHEL-216
HEL-S-26
IDCD
IDH
IDP
IDPC
PICD
HGNC (Hugo) IDH1
LocusID (NCBI) 3417
Atlas_Id 46377
Location 2q34
Location_base_pair Starts at 209100951 and ends at 209119182 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)IDH1   5382
Cards
Entrez_Gene (NCBI)IDH1  3417  isocitrate dehydrogenase 1 (NADP+), soluble
GeneCards (Weizmann)IDH1
Ensembl hg19 (Hinxton)ENSG00000138413 [Gene_View]  chr2:209100951-209119182 [Contig_View]  IDH1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000138413 [Gene_View]  chr2:209100951-209119182 [Contig_View]  IDH1 [Vega]
ICGC DataPortalENSG00000138413
TCGA cBioPortalIDH1
AceView (NCBI)IDH1
Genatlas (Paris)IDH1
WikiGenes3417
SOURCE (Princeton)IDH1
Genomic and cartography
GoldenPath hg19 (UCSC)IDH1  -     chr2:209100951-209119182 -  2q34   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IDH1  -     2q34   [Description]    (hg38-Dec_2013)
EnsemblIDH1 - 2q34 [CytoView hg19]  IDH1 - 2q34 [CytoView hg38]
Mapping of homologs : NCBIIDH1 [Mapview hg19]  IDH1 [Mapview hg38]
OMIM137800   147700   
Gene and transcription
Genbank (Entrez)AF020038 AF113917 AK302105 AK312242 AL136702
RefSeq transcript (Entrez)NM_001282386 NM_001282387 NM_005896
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_023319 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)IDH1
Cluster EST : UnigeneHs.593422 [ NCBI ]
CGAP (NCI)Hs.593422
Alternative Splicing : Fast-db (Paris)GSHG0018312
Alternative Splicing GalleryENSG00000138413
Gene ExpressionIDH1 [ NCBI-GEO ]     IDH1 [ SEEK ]   IDH1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75874 (Uniprot)
NextProtO75874  [Medical]  [Publications]
With graphics : InterProO75874
Splice isoforms : SwissVarO75874 (Swissvar)
Catalytic activity : Enzyme1.1.1.42 [ Enzyme-Expasy ]   1.1.1.421.1.1.42 [ IntEnz-EBI ]   1.1.1.42 [ BRENDA ]   1.1.1.42 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)IDH_IMDH (PS00470)   
Domains : Interpro (EBI)IsoCit/isopropylmalate_DH_CS    Isocitrate_DH_NADP    IsoPropMal-DH-like_dom   
Related proteins : CluSTrO75874
Domain families : Pfam (Sanger)Iso_dh (PF00180)   
Domain families : Pfam (NCBI)pfam00180   
DMDM Disease mutations3417
Blocks (Seattle)O75874
PDB (SRS)1T09    1T0L    3INM    3MAP    3MAR    3MAS    4I3K    4I3L    4KZO    4L03    4L04    4L06    4UMX    4UMY   
PDB (PDBSum)1T09    1T0L    3INM    3MAP    3MAR    3MAS    4I3K    4I3L    4KZO    4L03    4L04    4L06    4UMX    4UMY   
PDB (IMB)1T09    1T0L    3INM    3MAP    3MAR    3MAS    4I3K    4I3L    4KZO    4L03    4L04    4L06    4UMX    4UMY   
PDB (RSDB)1T09    1T0L    3INM    3MAP    3MAR    3MAS    4I3K    4I3L    4KZO    4L03    4L04    4L06    4UMX    4UMY   
Human Protein AtlasENSG00000138413
Peptide AtlasO75874
HPRD00984
IPIIPI00027223   IPI00023029   IPI00924576   IPI00927373   IPI00925000   
Protein Interaction databases
DIP (DOE-UCLA)O75874
IntAct (EBI)O75874
FunCoupENSG00000138413
BioGRIDIDH1
IntegromeDBIDH1
STRING (EMBL)IDH1
Ontologies - Pathways
QuickGOO75874
Ontology : AmiGOmagnesium ion binding  isocitrate dehydrogenase (NADP+) activity  isocitrate dehydrogenase (NADP+) activity  receptor binding  cytoplasm  mitochondrion  peroxisome  peroxisomal matrix  cytosol  cytosol  glyoxylate cycle  tricarboxylic acid cycle  isocitrate metabolic process  2-oxoglutarate metabolic process  2-oxoglutarate metabolic process  NADPH regeneration  glutathione metabolic process  response to oxidative stress  female gonad development  protein homodimerization activity  cellular lipid metabolic process  small molecule metabolic process  response to steroid hormone  NADP binding  NAD binding  extracellular exosome  
Ontology : EGO-EBImagnesium ion binding  isocitrate dehydrogenase (NADP+) activity  isocitrate dehydrogenase (NADP+) activity  receptor binding  cytoplasm  mitochondrion  peroxisome  peroxisomal matrix  cytosol  cytosol  glyoxylate cycle  tricarboxylic acid cycle  isocitrate metabolic process  2-oxoglutarate metabolic process  2-oxoglutarate metabolic process  NADPH regeneration  glutathione metabolic process  response to oxidative stress  female gonad development  protein homodimerization activity  cellular lipid metabolic process  small molecule metabolic process  response to steroid hormone  NADP binding  NAD binding  extracellular exosome  
Pathways : KEGGCitrate cycle (TCA cycle)    Glutathione metabolism    Peroxisome   
Protein Interaction DatabaseIDH1
DoCM (Curated mutations)IDH1
Wikipedia pathwaysIDH1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerIDH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IDH1
dbVarIDH1
ClinVarIDH1
1000_GenomesIDH1 
Exome Variant ServerIDH1
SNP (GeneSNP Utah)IDH1
SNP : HGBaseIDH1
Genetic variants : HAPMAPIDH1
Genomic Variants (DGV)IDH1 [DGVbeta]
Mutations
ICGC Data PortalIDH1 
TCGA Data PortalIDH1 
Tumor PortalIDH1
Cancer Gene: CensusIDH1 
Somatic Mutations in Cancer : COSMICIDH1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)Vascular Anomaly and Lymphedema Mutation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:209100951-209119182
CONAN: Copy Number AnalysisIDH1 
Mutations and Diseases : HGMDIDH1
OMIM137800    147700   
MedgenIDH1
NextProtO75874 [Medical]
GENETestsIDH1
Disease Genetic AssociationIDH1
Huge Navigator IDH1 [HugePedia]  IDH1 [HugeCancerGEM]
snp3D : Map Gene to Disease3417
DGIdb (Drug Gene Interaction db)IDH1
BioCentury BCIQIDH1
General knowledge
Homologs : HomoloGeneIDH1
Homology/Alignments : Family Browser (UCSC)IDH1
Phylogenetic Trees/Animal Genes : TreeFamIDH1
Chemical/Protein Interactions : CTD3417
Chemical/Pharm GKB GenePA29630
Drug Sensitivity IDH1
Clinical trialIDH1
Cancer Resource (Charite)ENSG00000138413
Other databases
Probes
Litterature
PubMed401 Pubmed reference(s) in Entrez
CoreMineIDH1
GoPubMedIDH1
iHOPIDH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:42:03 CEST 2015

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