ENSG00000138413


Homo sapiens

Features
Gene ID: ENSG00000138413
  
Biological name :IDH1
  
Synonyms : IDH1 / isocitrate dehydrogenase (NADP(+)) 1, cytosolic / O75874
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q34
Gene start: 208236227
Gene end: 208266074
  
Corresponding Affymetrix probe sets: 1555037_a_at (Human Genome U133 Plus 2.0 Array)   201193_at (Human Genome U133 Plus 2.0 Array)   242956_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000409045
Ensembl peptide - ENSP00000390265
Ensembl peptide - ENSP00000410513
Ensembl peptide - ENSP00000391075
Ensembl peptide - ENSP00000396787
Ensembl peptide - ENSP00000260985
NCBI entrez gene - 3417     See in Manteia.
OMIM - 147700
RefSeq - NM_001282386
RefSeq - NM_001282387
RefSeq - NM_005896
RefSeq Peptide - NP_001269315
RefSeq Peptide - NP_001269316
RefSeq Peptide - NP_005887
swissprot - V9HWJ2
swissprot - C9JJE5
swissprot - C9J4N6
swissprot - O75874
swissprot - C9JLU6
Ensembl - ENSG00000138413
  
Related genetic diseases (OMIM): 137800 - {Glioma, susceptibility to, somatic}, 137800
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 idh1ENSDARG00000025375Danio rerio
 IDH1ENSGALG00000008818Gallus gallus
 Idh1ENSMUSG00000025950Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IDH2 / P48735 / isocitrate dehydrogenase (NADP(+)) 2, mitochondrialENSG0000018205468


Protein motifs (from Interpro)
Interpro ID Name
 IPR004790  Isocitrate dehydrogenase NADP-dependent
 IPR019818  Isocitrate/isopropylmalate dehydrogenase, conserved site
 IPR024084  Isopropylmalate dehydrogenase-like domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006097 glyoxylate cycle IEA
 biological_processGO:0006099 tricarboxylic acid cycle IEA
 biological_processGO:0006102 isocitrate metabolic process IEA
 biological_processGO:0006103 2-oxoglutarate metabolic process TAS
 biological_processGO:0006740 NADPH regeneration TAS
 biological_processGO:0006749 glutathione metabolic process IEA
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0008585 female gonad development IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0048545 response to steroid hormone IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060696 regulation of phospholipid catabolic process IEA
 biological_processGO:0071071 regulation of phospholipid biosynthetic process IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005777 peroxisome IEA
 cellular_componentGO:0005782 peroxisomal matrix TAS
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904724 tertiary granule lumen TAS
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0000287 magnesium ion binding IDA
 molecular_functionGO:0004448 isocitrate dehydrogenase activity IEA
 molecular_functionGO:0004450 isocitrate dehydrogenase (NADP+) activity IEA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050661 NADP binding IEA
 molecular_functionGO:0051287 NAD binding IEA
 molecular_functionGO:0051990 (R)-2-hydroxyglutarate dehydrogenase activity EXP


Pathways (from Reactome)
Pathway description
Abnormal conversion of 2-oxoglutarate to 2-hydroxyglutarate
NADPH regeneration
Neutrophil degranulation
Peroxisomal protein import


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000826 Precocious puberty "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators]
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 HP:0000853 Goiter "An enlargement of the thyroid gland." [HPO:curators]
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 HP:0000926 Platyspondyly 
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 HP:0000944 Abnormality of the metaphyses 
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 HP:0001387 Joint stiffness "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators]
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 HP:0001482 Subcutaneous nodules 
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 HP:0001903 Anemia 
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 HP:0001928 Abnormality of coagulation 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002653 Bone pain 
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 HP:0002757 Recurrent fractures "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators]
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 HP:0002797 Osteolysis 
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 HP:0002893 Pituitary adenoma 
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 HP:0002897 Parathyroid adenoma 
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 HP:0002983 Micromelia 
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 HP:0003002 Breast cancer 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004936 Venous thrombosis 
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 HP:0005701 Multiple enchondromatosis 
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 HP:0006765 Increased risk of chondrosarcoma 
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 HP:0006824 Cranial nerve paralysis 
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 HP:0007461 Hemangiomatosis 
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 HP:0009592 Astrocytoma "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes." [HPO:curators]
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 HP:0100021 Cerebral paralysis "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [HPO:sdoelken]
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 HP:0100615 Ovarian neoplasm "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson]
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 HP:0100641 Cortical adrenal neoplasia 
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 HP:0100761 Visceral angiomatosis 
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 HP:0100764 Lymphangioma "Malformation of the lymphatic system." [HPO:sdoelken]
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 HP:0100777 Exostoses 
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000138413 IDH1 / O75874 / isocitrate dehydrogenase (NADP(+)) 1, cytosolic  / complex






 

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contact: otassy@igbmc.fr