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Idh1 Gene Detail
Summary
  • Symbol
    Idh1
  • Name
    isocitrate dehydrogenase 1 (NADP+), soluble
  • Synonyms
    E030024J03Rik, Id-1, Idh-1, IDPc
  • Feature Type
    protein coding gene
  • IDs
    MGI:96413
    NCBI Gene: 15926
  • Gene Overview
    MyGene.info: IDH1
Location & Maps
more
  • Sequence Map
    Chr1:65158616-65186500 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      27885 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 32.91 cM
  • Mapping Data
    95 experiments
Homology
more
  • Human Ortholog
    IDH1, isocitrate dehydrogenase (NADP(+)) 1, cytosolic
  • Vertebrate Orthologs
    9
  • Human Ortholog
    IDH1, isocitrate dehydrogenase (NADP(+)) 1, cytosolic
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HEL-216, HEL-S-26, IDCD, IDH, IDP, IDPC, PICD
  • Links
    NCBI Gene ID: 3417
    neXtProt AC: NX_O75874

  • Chr Location
    2q33.3; chr2:208236227-208255143 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with human IDH1 associations

Human Disease Mouse Models
       Glioma Susceptibility 1; GLM1   OMIM: 137800
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 4 alleles in 6 genetic backgrounds
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    25
  • Chemically induced (other)
    1
  • Gene trapped
    14
  • Radiation induced
    1
  • Targeted
    9
  • Genomic Mutations
    2 involving Idh1
  • Incidental Mutations
    Mutagenetix , APF , CvDC
Electrophoretic variation has been shown in tissues of liver, kidney, spleen and muscle. Strains C57BL/6, C3H/He carry the a allele; DBA/2 carries the b allele; M.m. castaneus and M.m. molossinus carry the c allele; the d allele is found at low frequencyin M. m. molossinus in Japan.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    36
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    351
  • Tissues
    154
  • cDNA Data
    17
  • Literature Summary
    7
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021898 VEGA Gene Model | MGI Sequence Detail 27885 C57BL/6J ±  kb
transcript OTTMUST00000052006 VEGA | MGI Sequence Detail 2302 Not Applicable  
polypeptide OTTMUSP00000024561 VEGA | MGI Sequence Detail 414 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    195 from dbSNP Build 142
Protein
Information
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  • UniProt
    10 Sequences
  • Protein Ontology
    PR:000008887 isocitrate dehydrogenase [NADP] cytoplasmic
  • PDB
    2CMJ, 2CMV
  • EC
    1.1.1.42
  • InterPro Domains
    IPR004790 Isocitrate dehydrogenase NADP-dependent
    IPR019818 Isocitrate/isopropylmalate dehydrogenase, conserved site
    IPR024084 Isopropylmalate dehydrogenase-like domain
Molecular
Reagents
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  • All nucleic 17
    cDNA 17

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-11152, MGD-MRK-11180, MGD-MRK-11183, MGI:2138196, MGI:2138322
References
more
  • Summaries
    All 139
    Developmental Gene Expression 7
    Gene Ontology 10
    Phenotypes 17
  • Earliest
    J:13010 HENDERSON NS, ISOZYMES OF ISOCITRATE DEHYDROGENASE: SUBUNIT STRUCTURE AND INTRACELLULAR LOCATION. J Exp Zool. 1965 Apr;158:263-73
  • Latest
    J:229965 Hao Z, et al., Idh1 mutations contribute to the development of T-cell malignancies in genetically engineered mice. Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):1387-92
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory