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

Identity

Alias_namesisocitrate dehydrogenase 1 (NADP), soluble
isocitrate dehydrogenase 1 (NADP)
Other aliasHEL-216
HEL-S-26
IDCD
IDH
IDP
IDPC
PICD
HGNC (Hugo) IDH1
LocusID (NCBI) 3417
Atlas_Id 46377
Location 2q34  [Link to chromosome band 2q34]
Location_base_pair Starts at 208236227 and ends at 208254458 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CCNYL1 (2q33.3) / IDH1 (2q34)IDH1 (2q34) / MBOAT2 (2p25.1)IDH1 (2q34) / NCL (2q37.1)
IDH1 (2q34) / RPS24 (10q22.3)

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 6 ]
  Classification of myelodysplastic syndromes 2015
Chronic Myelomonocytic Leukemia (CMML)
Early T-cell precursor acute lymphoblastic leukemia
Mixed phenotype acute leukemia (MPAL)

t(2;2)(p22;p22) LTBP1/BIRC6::del(2)(p22p22) LTBP1/BIRC6


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Bone: Periosteal chondroma


External links

Nomenclature
HGNC (Hugo)IDH1   5382
LRG (Locus Reference Genomic)LRG_610
Cards
Entrez_Gene (NCBI)IDH1  3417  isocitrate dehydrogenase (NADP(+)) 1, cytosolic
AliasesHEL-216; HEL-S-26; IDCD; IDH; 
IDP; IDPC; PICD
GeneCards (Weizmann)IDH1
Ensembl hg19 (Hinxton)ENSG00000138413 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138413 [Gene_View]  chr2:208236227-208254458 [Contig_View]  IDH1 [Vega]
ICGC DataPortalENSG00000138413
TCGA cBioPortalIDH1
AceView (NCBI)IDH1
Genatlas (Paris)IDH1
WikiGenes3417
SOURCE (Princeton)IDH1
Genetics Home Reference (NIH)IDH1
Genomic and cartography
GoldenPath hg38 (UCSC)IDH1  -     chr2:208236227-208254458 -  2q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IDH1  -     2q34   [Description]    (hg19-Feb_2009)
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)
Consensus coding sequences : CCDS (NCBI)IDH1
Cluster EST : UnigeneHs.593422 [ NCBI ]
CGAP (NCI)Hs.593422
Alternative Splicing GalleryENSG00000138413
Gene ExpressionIDH1 [ NCBI-GEO ]   IDH1 [ EBI - ARRAY_EXPRESS ]   IDH1 [ SEEK ]   IDH1 [ MEM ]
Gene Expression Viewer (FireBrowse)IDH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3417
GTEX Portal (Tissue expression)IDH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75874   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75874  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75874
Splice isoforms : SwissVarO75874
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 ]   
PhosPhoSitePlusO75874
Domaine pattern : Prosite (Expaxy)IDH_IMDH (PS00470)   
Domains : Interpro (EBI)IsoCit/isopropylmalate_DH_CS    Isocitrate_DH_NADP    IsoPropMal-DH-like_dom   
Domain families : Pfam (Sanger)Iso_dh (PF00180)   
Domain families : Pfam (NCBI)pfam00180   
Domain families : Smart (EMBL)Iso_dh (SM01329)  
Conserved Domain (NCBI)IDH1
DMDM Disease mutations3417
Blocks (Seattle)IDH1
PDB (SRS)1T09    1T0L    3INM    3MAP    3MAR    3MAS    4I3K    4I3L    4KZO    4L03    4L04    4L06    4UMX    4UMY    4XRX    4XS3    5DE1    5GIR    5K10    5K11    5L57    5L58    5TQH   
PDB (PDBSum)1T09    1T0L    3INM    3MAP    3MAR    3MAS    4I3K    4I3L    4KZO    4L03    4L04    4L06    4UMX    4UMY    4XRX    4XS3    5DE1    5GIR    5K10    5K11    5L57    5L58    5TQH   
PDB (IMB)1T09    1T0L    3INM    3MAP    3MAR    3MAS    4I3K    4I3L    4KZO    4L03    4L04    4L06    4UMX    4UMY    4XRX    4XS3    5DE1    5GIR    5K10    5K11    5L57    5L58    5TQH   
PDB (RSDB)1T09    1T0L    3INM    3MAP    3MAR    3MAS    4I3K    4I3L    4KZO    4L03    4L04    4L06    4UMX    4UMY    4XRX    4XS3    5DE1    5GIR    5K10    5K11    5L57    5L58    5TQH   
Structural Biology KnowledgeBase1T09    1T0L    3INM    3MAP    3MAR    3MAS    4I3K    4I3L    4KZO    4L03    4L04    4L06    4UMX    4UMY    4XRX    4XS3    5DE1    5GIR    5K10    5K11    5L57    5L58    5TQH   
SCOP (Structural Classification of Proteins)1T09    1T0L    3INM    3MAP    3MAR    3MAS    4I3K    4I3L    4KZO    4L03    4L04    4L06    4UMX    4UMY    4XRX    4XS3    5DE1    5GIR    5K10    5K11    5L57    5L58    5TQH   
CATH (Classification of proteins structures)1T09    1T0L    3INM    3MAP    3MAR    3MAS    4I3K    4I3L    4KZO    4L03    4L04    4L06    4UMX    4UMY    4XRX    4XS3    5DE1    5GIR    5K10    5K11    5L57    5L58    5TQH   
SuperfamilyO75874
Human Protein AtlasENSG00000138413
Peptide AtlasO75874
HPRD00984
IPIIPI00027223   IPI00023029   IPI00924576   IPI00927373   IPI00925000   
Protein Interaction databases
DIP (DOE-UCLA)O75874
IntAct (EBI)O75874
FunCoupENSG00000138413
BioGRIDIDH1
STRING (EMBL)IDH1
ZODIACIDH1
Ontologies - Pathways
QuickGOO75874
Ontology : AmiGOmagnesium ion binding  isocitrate dehydrogenase (NADP+) activity  isocitrate dehydrogenase (NADP+) activity  receptor binding  extracellular region  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  secretory granule lumen  protein homodimerization activity  neutrophil degranulation  cadherin binding  response to steroid hormone  NADP binding  NAD binding  (R)-2-hydroxyglutarate dehydrogenase activity  regulation of phospholipid catabolic process  extracellular exosome  regulation of phospholipid biosynthetic process  tertiary granule lumen  ficolin-1-rich granule lumen  
Ontology : EGO-EBImagnesium ion binding  isocitrate dehydrogenase (NADP+) activity  isocitrate dehydrogenase (NADP+) activity  receptor binding  extracellular region  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  secretory granule lumen  protein homodimerization activity  neutrophil degranulation  cadherin binding  response to steroid hormone  NADP binding  NAD binding  (R)-2-hydroxyglutarate dehydrogenase activity  regulation of phospholipid catabolic process  extracellular exosome  regulation of phospholipid biosynthetic process  tertiary granule lumen  ficolin-1-rich granule lumen  
Pathways : KEGGCitrate cycle (TCA cycle)    Glutathione metabolism    Peroxisome   
NDEx NetworkIDH1
Atlas of Cancer Signalling NetworkIDH1
Wikipedia pathwaysIDH1
Orthology - Evolution
OrthoDB3417
GeneTree (enSembl)ENSG00000138413
Phylogenetic Trees/Animal Genes : TreeFamIDH1
HOVERGENO75874
HOGENOMO75874
Homologs : HomoloGeneIDH1
Homology/Alignments : Family Browser (UCSC)IDH1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIDH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IDH1
dbVarIDH1
ClinVarIDH1
1000_GenomesIDH1 
Exome Variant ServerIDH1
ExAC (Exome Aggregation Consortium)IDH1 (select the gene name)
Genetic variants : HAPMAP3417
Genomic Variants (DGV)IDH1 [DGVbeta]
DECIPHERIDH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIDH1 
Mutations
ICGC Data PortalIDH1 
TCGA Data PortalIDH1 
Broad Tumor PortalIDH1
OASIS PortalIDH1 [ Somatic mutations - Copy number]
Cancer Gene: CensusIDH1 
Somatic Mutations in Cancer : COSMICIDH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIDH1
intOGen PortalIDH1
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
BioMutasearch IDH1
DgiDB (Drug Gene Interaction Database)IDH1
DoCM (Curated mutations)IDH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IDH1 (select a term)
intoGenIDH1
Cancer3DIDH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137800    147700   
Orphanet17509    2257    19649    19650    14219   
MedgenIDH1
Genetic Testing Registry IDH1
NextProtO75874 [Medical]
TSGene3417
GENETestsIDH1
Target ValidationIDH1
Huge Navigator IDH1 [HugePedia]
snp3D : Map Gene to Disease3417
BioCentury BCIQIDH1
ClinGenIDH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3417
Chemical/Pharm GKB GenePA29630
Drug Sensitivity IDH1
Clinical trialIDH1
Miscellaneous
canSAR (ICR)IDH1 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIDH1
EVEXIDH1
GoPubMedIDH1
iHOPIDH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:03:38 CEST 2017

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