Details for: IDH3A

Gene ID: 3419

Symbol: IDH3A

Ensembl ID: ENSG00000166411

Description: isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.47
    Marker Score: 4314
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.77
    Marker Score: 3878
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.54
    Marker Score: 34333
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.5
    Marker Score: 55370
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167531
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.39
    Marker Score: 5803
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.35
    Marker Score: 785
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.34
    Marker Score: 1927
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.33
    Marker Score: 2050
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.31
    Marker Score: 2660.5
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.3
    Marker Score: 5383
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.29
    Marker Score: 79339
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.29
    Marker Score: 4038
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.26
    Marker Score: 13006
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.25
    Marker Score: 2069
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.22
    Marker Score: 10452
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.21
    Marker Score: 601
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.16
    Marker Score: 334
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.16
    Marker Score: 10875
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 1.15
    Marker Score: 1144
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.15
    Marker Score: 4078.5
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.14
    Marker Score: 1517
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.06
    Marker Score: 10040
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.04
    Marker Score: 2545
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.03
    Marker Score: 4929
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.02
    Marker Score: 15984
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71674
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47899
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.99
    Marker Score: 1048
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.98
    Marker Score: 2331
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.98
    Marker Score: 411
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30387
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.97
    Marker Score: 17262
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.97
    Marker Score: 3934.5
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.96
    Marker Score: 3776
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.94
    Marker Score: 1008
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2394
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.93
    Marker Score: 980
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.92
    Marker Score: 3573
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 476
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 432
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5208
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.91
    Marker Score: 34642
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.91
    Marker Score: 1098
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.91
    Marker Score: 18073
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.91
    Marker Score: 854
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2692
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.89
    Marker Score: 927
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.89
    Marker Score: 7690
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.88
    Marker Score: 429
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.87
    Marker Score: 883
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.87
    Marker Score: 326
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5247
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.86
    Marker Score: 2309
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.85
    Marker Score: 224
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.84
    Marker Score: 1049
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.83
    Marker Score: 9670
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.83
    Marker Score: 272
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.83
    Marker Score: 1216
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.82
    Marker Score: 224
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.82
    Marker Score: 285
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.82
    Marker Score: 514.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.81
    Marker Score: 17357
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.81
    Marker Score: 27635
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.8
    Marker Score: 739
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 0.8
    Marker Score: 1391
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.8
    Marker Score: 197
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.8
    Marker Score: 584
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 317
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.79
    Marker Score: 851
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.79
    Marker Score: 191
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.78
    Marker Score: 1285
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.78
    Marker Score: 782
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.78
    Marker Score: 2666
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.77
    Marker Score: 6674
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 591
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.77
    Marker Score: 310
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.76
    Marker Score: 2073
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.76
    Marker Score: 1075
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.75
    Marker Score: 746.5
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.75
    Marker Score: 223
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.75
    Marker Score: 589
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.74
    Marker Score: 3204
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.74
    Marker Score: 4397
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.74
    Marker Score: 162
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.74
    Marker Score: 209
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.73
    Marker Score: 1852
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.73
    Marker Score: 3578
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.72
    Marker Score: 542
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.72
    Marker Score: 2954
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.72
    Marker Score: 1699
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 373
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.72
    Marker Score: 10724
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.72
    Marker Score: 377
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.72
    Marker Score: 5486
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.71
    Marker Score: 765
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.71
    Marker Score: 913
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.71
    Marker Score: 487

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Other Information

**Key characteristics:** - IDH3A is a protein of the NAD+ family of enzymes. - It is a multi-subunit protein, with a molecular weight of approximately 150 kDa. - It is found in the mitochondria of eukaryotic cells. - It is a highly conserved protein, with a similar sequence in mammals, birds, and fish. **Pathways and functions:** - IDH3A is involved in the citric acid cycle (tca cycle), a central metabolic pathway that generates energy for the cells. - It is also involved in the regulation of pyruvate metabolism and the synthesis of amino acids. - It helps to maintain the NAD+ pool in the cell. - It is involved in the regulation of cell growth and differentiation. - It is involved in the regulation of apoptosis. **Clinical significance:** - Mutations in IDH3A have been linked to several human diseases, including cancer and diabetes. - IDH3A inhibitors are being investigated as potential treatments for these diseases. - IDH3A is a promising target for the treatment of cancer.

Genular Protein ID: 3869704007

Symbol: IDH3A_HUMAN

Name: Isocitric dehydrogenase subunit alpha

UniProtKB Accession Codes:

P50213 D3DW83 Q9H3X0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CPTAC 1 CTD 1 CarbonylDB 1 ChEBI 10 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 EC 1 EMBL 5 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 26 PDBsum 19 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 2 SABIO-RK 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7755589

Title: Characterization of a cDNA clone for human NAD(+)-specific isocitrate dehydrogenase alpha-subunit and structural comparison with its isoenzymes from different species.

PubMed ID: 7755589

DOI: 10.1042/bj3080063

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 28139779

Title: The beta and gamma subunits play distinct functional roles in the alpha2betagamma heterotetramer of human NAD-dependent isocitrate dehydrogenase.

PubMed ID: 28139779

DOI: 10.1038/srep41882

PubMed ID: 28098230

Title: Molecular mechanism of the allosteric regulation of the alphagamma heterodimer of human NAD-dependent isocitrate dehydrogenase.

PubMed ID: 28098230

DOI: 10.1038/srep40921

PubMed ID: 28412069

Title: Whole-exome sequencing identifies biallelic IDH3A variants as a cause of retinitis pigmentosa accompanied by pseudocoloboma.

PubMed ID: 28412069

DOI: 10.1016/j.ophtha.2017.03.010

PubMed ID: 30058936

Title: A novel variant in IDH3A identified in a case with Leber congenital amaurosis accompanied by macular pseudocoloboma.

PubMed ID: 30058936

DOI: 10.1080/13816810.2018.1502788

PubMed ID: 31012789

Title: A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.

PubMed ID: 31012789

DOI: 10.1080/13816810.2019.1605391

Sequence Information:

  • Length: 366
  • Mass: 39592
  • Checksum: 695F6A34F97430CF
  • Sequence:
    • MAGPAWISKV SRLLGAFHNP KQVTRGFTGG VQTVTLIPGD GIGPEISAAV MKIFDAAKAP 
IQWEERNVTA IQGPGGKWMI PSEAKESMDK NKMGLKGPLK TPIAAGHPSM NLLLRKTFDL 
YANVRPCVSI EGYKTPYTDV NIVTIRENTE GEYSGIEHVI VDGVVQSIKL ITEGASKRIA 
EFAFEYARNN HRSNVTAVHK ANIMRMSDGL FLQKCREVAE SCKDIKFNEM YLDTVCLNMV 
QDPSQFDVLV MPNLYGDILS DLCAGLIGGL GVTPSGNIGA NGVAIFESVH GTAPDIAGKD 
MANPTALLLS AVMMLRHMGL FDHAARIEAA CFATIKDGKS LTKDLGGNAK CSDFTEEICR 
RVKDLD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.