IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha)

2015-12-01  

Identity

HGNC
LOCATION
15q25.1
LOCUSID
ALIAS
RP90
FUSION GENES

Other Information

Locus ID:

NCBI: 3419
MIM: 601149
HGNC: 5384
Ensembl: ENSG00000166411

Variants:

dbSNP: 3419
ClinVar: 3419
TCGA: ENSG00000166411
COSMIC: IDH3A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166411ENST00000299518P50213
ENSG00000166411ENST00000557826H0YM64
ENSG00000166411ENST00000557960H0YM46
ENSG00000166411ENST00000558509H0YNF8
ENSG00000166411ENST00000558554H0YL72
ENSG00000166411ENST00000558933H0YNF8
ENSG00000166411ENST00000559106H0YL05
ENSG00000166411ENST00000559186H0YKD0
ENSG00000166411ENST00000559205H0YNF5
ENSG00000166411ENST00000559803H0YNF8
ENSG00000166411ENST00000559865Q68D72
ENSG00000166411ENST00000559881H0YLI6
ENSG00000166411ENST00000560396H0YLF8
ENSG00000166411ENST00000560667Q68D72
ENSG00000166411ENST00000560770A0A0G2JL95
ENSG00000166411ENST00000561279H0YMU3
ENSG00000166411ENST00000561366H0YMY5
ENSG00000166411ENST00000629769Q68D72

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Citrate cycle (TCA cycle)KEGGko00020
Citrate cycle (TCA cycle)KEGGhsa00020
Metabolic pathwaysKEGGhsa01100
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarateKEGGhsa_M00010
Citrate cycle (TCA cycle, Krebs cycle)KEGGM00009
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarateKEGGM00010
2-Oxocarboxylic acid metabolismKEGGhsa01210
2-Oxocarboxylic acid metabolismKEGGko01210
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Citrate cycle (TCA cycle, Krebs cycle)KEGGhsa_M00009
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Citric acid cycle (TCA cycle)REACTOMER-HSA-71403

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203062912010A three-stage genome-wide association study of general cognitive ability: hunting the small effects.36
255313252015Aberrant IDH3α expression promotes malignant tumor growth by inducing HIF-1-mediated metabolic reprogramming and angiogenesis.25
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
145556582003Evaluation by mutagenesis of the importance of 3 arginines in alpha, beta, and gamma subunits of human NAD-dependent isocitrate dehydrogenase.16
167379552006Identification of Mn2+-binding aspartates from alpha, beta, and gamma subunits of human NAD-dependent isocitrate dehydrogenase.12
174328782007Role of alpha-Asp181, beta-Asp192, and gamma-Asp190 in the distinctive subunits of human NAD-specific isocitrate dehydrogenase.11
306137652019IDH3α regulates one-carbon metabolism in glioblastoma.7
310127892019A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.1

Citation

Dessen P

IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2015-12-01

Online version: http://atlasgeneticsoncology.org/gene/55555/idh3a