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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 177.2475
    Cell Significance Index: -27.5700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 107.4343
    Cell Significance Index: -27.2500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 64.2418
    Cell Significance Index: -30.3300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 62.4728
    Cell Significance Index: -25.3800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 57.1945
    Cell Significance Index: -29.4200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 45.3040
    Cell Significance Index: -30.4000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 26.7611
    Cell Significance Index: -25.5500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 23.4315
    Cell Significance Index: -28.8900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.6534
    Cell Significance Index: -25.8600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.3859
    Cell Significance Index: -29.1500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.6451
    Cell Significance Index: -20.4100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.4960
    Cell Significance Index: -9.8400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.8015
    Cell Significance Index: 44.9500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.0446
    Cell Significance Index: 54.7900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.9731
    Cell Significance Index: 195.1800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.6042
    Cell Significance Index: 96.3100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.4454
    Cell Significance Index: 19.7200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2694
    Cell Significance Index: 97.4200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.1863
    Cell Significance Index: 32.2900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1310
    Cell Significance Index: 1021.2500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9960
    Cell Significance Index: 199.8000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.9540
    Cell Significance Index: 50.0900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.7234
    Cell Significance Index: 10.6800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6821
    Cell Significance Index: 471.7500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.5869
    Cell Significance Index: 15.6700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5475
    Cell Significance Index: 37.8700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5314
    Cell Significance Index: 24.0900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5264
    Cell Significance Index: 33.1800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4761
    Cell Significance Index: 10.3200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4412
    Cell Significance Index: 158.2500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4356
    Cell Significance Index: 12.5500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4225
    Cell Significance Index: 186.8000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3962
    Cell Significance Index: 20.5800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3758
    Cell Significance Index: 46.2100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3693
    Cell Significance Index: 10.3200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3229
    Cell Significance Index: 58.2000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3048
    Cell Significance Index: 166.4500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2742
    Cell Significance Index: 54.4100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2546
    Cell Significance Index: 30.0300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.2310
    Cell Significance Index: 2.8700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2011
    Cell Significance Index: 27.6200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1838
    Cell Significance Index: 8.5700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1519
    Cell Significance Index: 10.7400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1508
    Cell Significance Index: 4.8300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1283
    Cell Significance Index: 3.6600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1277
    Cell Significance Index: 20.7700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1266
    Cell Significance Index: 8.1700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1187
    Cell Significance Index: 5.2500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1177
    Cell Significance Index: 53.4100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1148
    Cell Significance Index: 7.7200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1109
    Cell Significance Index: 4.2000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0767
    Cell Significance Index: 9.8300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0702
    Cell Significance Index: 13.3600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0563
    Cell Significance Index: 9.6200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0418
    Cell Significance Index: 78.7800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0413
    Cell Significance Index: 5.3300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0389
    Cell Significance Index: 2.9000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0308
    Cell Significance Index: 19.5400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0107
    Cell Significance Index: 19.7900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0060
    Cell Significance Index: 9.2600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0003
    Cell Significance Index: -0.0300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0032
    Cell Significance Index: -0.1500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0051
    Cell Significance Index: -3.7600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0080
    Cell Significance Index: -5.8900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0095
    Cell Significance Index: -5.3800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0100
    Cell Significance Index: -6.2700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0115
    Cell Significance Index: -0.3300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0141
    Cell Significance Index: -10.7000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0144
    Cell Significance Index: -19.6100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0398
    Cell Significance Index: -4.0700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0689
    Cell Significance Index: -2.4200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0766
    Cell Significance Index: -16.1300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0866
    Cell Significance Index: -24.9200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0894
    Cell Significance Index: -13.0000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1010
    Cell Significance Index: -1.7300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1056
    Cell Significance Index: -12.3100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1198
    Cell Significance Index: -3.0800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1243
    Cell Significance Index: -14.1900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.1250
    Cell Significance Index: -1.0500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1348
    Cell Significance Index: -3.2900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1515
    Cell Significance Index: -8.5000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1570
    Cell Significance Index: -8.1800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1779
    Cell Significance Index: -4.5500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1833
    Cell Significance Index: -3.8900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1897
    Cell Significance Index: -2.8000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2023
    Cell Significance Index: -5.9400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2400
    Cell Significance Index: -24.9900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2814
    Cell Significance Index: -22.2900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2908
    Cell Significance Index: -6.2200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3092
    Cell Significance Index: -5.1800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3130
    Cell Significance Index: -6.6700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3172
    Cell Significance Index: -8.4900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3283
    Cell Significance Index: -20.1800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3674
    Cell Significance Index: -4.3800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.4039
    Cell Significance Index: -10.6200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4161
    Cell Significance Index: -25.5100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.4568
    Cell Significance Index: -5.1900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4577
    Cell Significance Index: -15.9100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4838
    Cell Significance Index: -15.4100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5142
    Cell Significance Index: -11.2600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Subunit structure:** IDH3A is a catalytic subunit of the isocitrate dehydrogenase enzyme, consisting of four identical subunits. 2. **Enzyme activity:** IDH3A catalyzes the conversion of isocitrate to alpha-ketoglutarate, generating NADH in the process. 3. **Subcellular localization:** IDH3A is primarily localized in the mitochondrial matrix, where it plays a critical role in the TCA cycle. 4. **Regulatory mechanisms:** IDH3A is subject to post-translational modifications, such as phosphorylation and ubiquitination, which regulate its activity and interactions with other proteins. **Pathways and Functions:** 1. **Citric acid cycle (TCA cycle):** IDH3A is a key enzyme in the TCA cycle, where it catalyzes the conversion of isocitrate to alpha-ketoglutarate, generating NADH and CO2. 2. **Energy production:** The TCA cycle is a critical component of cellular respiration, providing energy for cellular processes through the production of ATP, NADH, and FADH2. 3. **Metabolic regulation:** IDH3A plays a role in regulating metabolic pathways, including glycolysis, gluconeogenesis, and amino acid metabolism. 4. **Mitochondrial function:** IDH3A is essential for maintaining mitochondrial homeostasis, as it regulates the production of NADH and other metabolites that are critical for mitochondrial function. **Clinical Significance:** 1. **Cancer:** Mutations in the IDH3A gene have been associated with various types of cancer, including glioblastoma, acute myeloid leukemia, and colorectal cancer. These mutations can lead to the production of 2-hydroxyglutarate, a metabolite that can interfere with cellular function and contribute to tumorigenesis. 2. **Neurological disorders:** IDH3A mutations have been linked to neurological disorders, such as epilepsy and cognitive impairment. 3. **Cardiovascular disease:** IDH3A dysfunction has been implicated in the development of cardiovascular disease, including heart failure and arrhythmias. 4. **Metabolic disorders:** IDH3A mutations can also contribute to metabolic disorders, such as diabetes and obesity. In conclusion, the IDH3A gene plays a critical role in maintaining cellular homeostasis, regulating metabolic pathways, and promoting energy production. Mutations in this gene have been associated with various diseases, highlighting the importance of IDH3A in human health and disease.

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 Ensembl 1 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 19 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 2 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 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.