• Gene id: 3419

Gene Summary

• Gene Symbol: IDH3A   Gene   UCSC   Ensembl
• Gene name: isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
• Alternate names: isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial, H-IDH alpha, NAD(+)-specific ICDH subunit alpha, NAD(H)-specific isocitrate dehydrogenase alpha subunit, NAD+-specific ICDH, isocitrate dehydrogenase (NAD(+)) 3 alpha, isocitrate dehydrogenase (NAD+) ,
• Gene location: 15q25.1 (78149361: 78171944)     Exons: 12     NC_000015.10
• Gene summary(Entrez): Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases
• OMIM: 603699

Protein Summary

• Protein general information: P50213  
  • Name: Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial (EC 1.1.1.41) (Isocitric dehydrogenase subunit alpha) (NAD(+) specific ICDH subunit alpha)
  • Length: 366  
  • Mass: 39592
• Sequence:

  MAGPAWISKVSRLLGAFHNPKQVTRGFTGGVQTVTLIPGDGIGPEISAAVMKIFDAAKAPIQWEERNVTAIQGPG
  GKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSIEGYKTPYTDVNIVTIRENTE
  GEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGLFLQKCREVAESCKDI
  KFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVHGTAPDIAGKD
  MANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD

• Structural information:
  • Interpro: IPR019818  IPR004434  IPR024084  
  • Prosite: PS00470
  • PDB: 5GRE 5GRF 5GRH 5GRI 5GRL 5YVT 6KDE 6KDF 6KDY 6KE3
  • PDBsum: 5GRE 5GRF 5GRH 5GRI 5GRL 5YVT 6KDE 6KDF 6KDY 6KE3
  • STRING: ENSP00000299518
• Other Databases: GeneCards:  IDH3A  Malacards:  IDH3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0006102	isocitrate metabolic process	IBA	biological process
GO:0004449	isocitrate dehydrogenase (NAD+) activity	IBA	molecular function
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0004449	isocitrate dehydrogenase (NAD+) activity	IDA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0004449	isocitrate dehydrogenase (NAD+) activity	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0051287	NAD binding	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	NAS	biological process
GO:0004449	isocitrate dehydrogenase (NAD+) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00020	Citrate cycle
hsa01210	2-Oxocarboxylic acid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq