InnateDB Protein
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IDBP-388640.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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IDH1
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Protein Name
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isocitrate dehydrogenase 1 (NADP+), soluble
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Synonyms
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HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC; PICD;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000390265
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InnateDB Gene
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IDBG-79725 (IDH1)
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Protein Structure
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Function |
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:10521434}. Peroxisome {ECO:0000269PubMed:10521434}.
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Disease Associations |
Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Note=The gene represented in this entry is involved in disease pathogenesis. 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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
39
[view]
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Protein-Protein |
38
[view]
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Protein-DNA |
0
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Protein-RNA |
1
[view]
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004790
Isocitrate dehydrogenase NADP-dependent
IPR024084
Isopropylmalate dehydrogenase-like domain
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PFAM |
PF00180
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PRINTS |
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PIRSF |
PIRSF000108
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O75874
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PhosphoSite |
PhosphoSite-O75874
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TrEMBL |
V9HWJ2
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UniProt Splice Variant |
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Entrez Gene |
3417
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UniGene |
Hs.593422
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RefSeq |
NP_001269316
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HUGO |
HGNC:5382
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OMIM |
147700
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CCDS |
CCDS2381
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HPRD |
00984
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IMGT |
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EMBL |
AC016697
AF020038
AF113917
AK302105
AL136702
BC012846
BC093020
BX537411
CH471063
CR541695
DQ403082
EU794623
U62389
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GenPept |
AAB17375
AAD02918
AAD29284
AAH12846
AAH93020
AAX93221
ABD77215
ACJ13677
BAG63486
CAB66637
CAD97653
CAG46496
EAW70439
EAW70441
EAW70442
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