Details for: ND6

Gene ID: 4541

Symbol: ND6

Ensembl ID: ENSG00000198695

Description: NADH dehydrogenase subunit 6

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: mucosal type mast cell (CL0000485)
    Fold Change: 136.8345
    Cell Significance Index: -55.5900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 116.6247
    Cell Significance Index: -59.9900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 78.3953
    Cell Significance Index: -52.6100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 58.4241
    Cell Significance Index: -55.7800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 19.7242
    Cell Significance Index: 276.6600
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 19.5548
    Cell Significance Index: 52.3900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 17.5261
    Cell Significance Index: -46.9500
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 11.9977
    Cell Significance Index: 177.0900
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 10.2834
    Cell Significance Index: 81.8200
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 6.4181
    Cell Significance Index: 49.4700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 4.8900
    Cell Significance Index: 73.6900
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 4.3177
    Cell Significance Index: 55.3000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 3.9023
    Cell Significance Index: 143.2500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 3.5098
    Cell Significance Index: 103.0800
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 3.3505
    Cell Significance Index: 33.8000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 3.2424
    Cell Significance Index: 93.4200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.0484
    Cell Significance Index: 1664.8200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.8551
    Cell Significance Index: 52.7700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 2.7995
    Cell Significance Index: 69.9800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.7361
    Cell Significance Index: 46.0900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.6951
    Cell Significance Index: 140.0100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 2.4585
    Cell Significance Index: 56.8000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.3168
    Cell Significance Index: 108.0200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.0342
    Cell Significance Index: 55.3700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.0122
    Cell Significance Index: 399.3400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.7467
    Cell Significance Index: 16.0900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.5301
    Cell Significance Index: 79.7000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 1.4047
    Cell Significance Index: 143.4900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.1723
    Cell Significance Index: 144.1500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.0737
    Cell Significance Index: 147.4500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9339
    Cell Significance Index: 101.5800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.8274
    Cell Significance Index: 9.4000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7694
    Cell Significance Index: 694.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6599
    Cell Significance Index: 118.9700
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 0.5784
    Cell Significance Index: 4.9700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.4811
    Cell Significance Index: 138.4400
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.4743
    Cell Significance Index: 1.6500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.4730
    Cell Significance Index: 346.7900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4568
    Cell Significance Index: 31.5900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3721
    Cell Significance Index: 16.8700
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.3635
    Cell Significance Index: 2.7500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2952
    Cell Significance Index: 15.5000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2906
    Cell Significance Index: 18.7500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2533
    Cell Significance Index: 8.9000
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.2273
    Cell Significance Index: 1.4100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.2176
    Cell Significance Index: 17.2400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1433
    Cell Significance Index: 27.2800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1240
    Cell Significance Index: 12.2700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1043
    Cell Significance Index: 37.4000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1030
    Cell Significance Index: 2.0100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0588
    Cell Significance Index: 1.5700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0498
    Cell Significance Index: 0.6800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0101
    Cell Significance Index: 1.7200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0081
    Cell Significance Index: 1.6300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0070
    Cell Significance Index: -5.3000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0226
    Cell Significance Index: -2.9000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0233
    Cell Significance Index: -0.1900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0247
    Cell Significance Index: -1.1600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0249
    Cell Significance Index: -46.8900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0284
    Cell Significance Index: -52.4600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0338
    Cell Significance Index: -51.9900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0392
    Cell Significance Index: -53.2400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0442
    Cell Significance Index: -5.7200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0528
    Cell Significance Index: -39.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0578
    Cell Significance Index: -3.6400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0673
    Cell Significance Index: -1.7700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0706
    Cell Significance Index: -39.7900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0825
    Cell Significance Index: -52.3800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0842
    Cell Significance Index: -52.5500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1049
    Cell Significance Index: -47.6300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1056
    Cell Significance Index: -2.2500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1155
    Cell Significance Index: -13.2300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1437
    Cell Significance Index: -3.6700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.1935
    Cell Significance Index: -31.4700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2225
    Cell Significance Index: -46.8600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2950
    Cell Significance Index: -7.8900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3255
    Cell Significance Index: -24.2600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3345
    Cell Significance Index: -48.6300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3526
    Cell Significance Index: -3.6500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4131
    Cell Significance Index: -27.7800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4452
    Cell Significance Index: -14.2600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4458
    Cell Significance Index: -34.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4657
    Cell Significance Index: -48.4900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.5848
    Cell Significance Index: -12.6700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.6162
    Cell Significance Index: -31.1400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.6310
    Cell Significance Index: -10.5600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6480
    Cell Significance Index: -39.7300
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: -0.6785
    Cell Significance Index: -3.3000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.7018
    Cell Significance Index: -39.3800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.7028
    Cell Significance Index: -28.8000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.7464
    Cell Significance Index: -45.8800
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: -0.7918
    Cell Significance Index: -3.9500
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.8094
    Cell Significance Index: -16.8800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.8446
    Cell Significance Index: -21.7100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.9056
    Cell Significance Index: -10.8000
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.9589
    Cell Significance Index: -7.3300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.9769
    Cell Significance Index: -43.2100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.9787
    Cell Significance Index: -27.9300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.9964
    Cell Significance Index: -6.0200
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -1.1757
    Cell Significance Index: -7.6700

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:** ND6 is a mitochondrial gene that encodes a subunit of the NADH dehydrogenase complex, also known as Complex I, which is the first enzyme of the electron transport chain. This complex is responsible for generating the proton motive force necessary for ATP synthesis. ND6 is highly expressed in various cell types, including retinal ganglion cells, Sertoli cells, and immune cells such as T cells and monocytes. Its expression is also present in skeletal muscle cells and pancreatic ductal cells. **Pathways and Functions:** ND6 plays a critical role in the following pathways: 1. **Aerobic Respiration:** ND6 is essential for the electron transport chain, which generates energy for the cell through the transfer of electrons from NADH to ubiquinone. 2. **Mitochondrial Electron Transport:** ND6 is a key component of Complex I, which is responsible for the transfer of electrons from NADH to ubiquinone. 3. **Proton Motive Force-Driven ATP Synthesis:** ND6 helps generate the proton motive force necessary for ATP synthesis through chemiosmotic coupling. 4. **Heat Production by Uncoupling Proteins:** ND6 is also involved in the regulation of heat production by uncoupling proteins. **Clinical Significance:** Dysregulation of ND6 has been implicated in various diseases, including: 1. **Neurodegenerative Disorders:** ND6 mutations have been associated with neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and Huntington's disease. 2. **Cancer:** ND6 has been shown to be overexpressed in certain types of cancer, including breast cancer and lung cancer. 3. **Autoimmune Conditions:** ND6 has been implicated in autoimmune diseases such as multiple sclerosis and rheumatoid arthritis. In addition, ND6 has been shown to play a role in immune system regulation, with dysregulation leading to impaired immune function and increased susceptibility to infections. **Conclusion:** In conclusion, ND6 is a critical gene that plays a pivotal role in mitochondrial function and immune system regulation. Its dysregulation has been implicated in various diseases, highlighting the importance of understanding the functions and pathways of this gene. Further research is needed to fully elucidate the clinical significance of ND6 and its role in human disease.

Genular Protein ID: 3408173832

Symbol: NU6M_HUMAN

Name: NADH-ubiquinone oxidoreductase chain 6

UniProtKB Accession Codes:

P03923 Q34774 Q8HG30

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CORUM 1 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 1 EMBL 100 Ensembl 1 ExpressionAtlas 1 GO 11 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 3 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 VEuPathDB 1 eggNOG 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7219534

Title: Sequence and organization of the human mitochondrial genome.

PubMed ID: 7219534

DOI: 10.1038/290457a0

PubMed ID: 7530363

Title: Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.

PubMed ID: 7530363

DOI: 10.1073/pnas.92.2.532

PubMed ID: 9452107

Title: Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.

PubMed ID: 9452107

DOI: 10.1002/humu.1380110186

PubMed ID: 12949126

Title: Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.

PubMed ID: 12949126

DOI: 10.1093/molbev/msg230

PubMed ID: 11130070

Title: Mitochondrial genome variation and the origin of modern humans.

PubMed ID: 11130070

DOI: 10.1038/35047064

PubMed ID: 12840039

Title: Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.

PubMed ID: 12840039

DOI: 10.1101/gr.686603

PubMed ID: 14760490

Title: Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.

PubMed ID: 14760490

DOI: 10.1007/s00414-004-0427-6

PubMed ID: 2043137

Title: Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy.

PubMed ID: 2043137

DOI: 10.1016/0006-291x(91)92014-b

PubMed ID: 1757091

Title: Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.

PubMed ID: 1757091

DOI: 10.1007/bf00206061

PubMed ID: 1417830

Title: An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

PubMed ID: 1417830

DOI: 10.1016/0006-291x(92)90479-5

PubMed ID: 8016139

Title: A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

PubMed ID: 8016139

DOI: 10.1073/pnas.91.13.6206

PubMed ID: 8644732

Title: Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

PubMed ID: 8644732

PubMed ID: 8854108

Title: Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

PubMed ID: 8854108

PubMed ID: 10447650

Title: Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.

PubMed ID: 10447650

DOI: 10.1007/s004170050307

PubMed ID: 11133798

Title: The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

PubMed ID: 11133798

DOI: 10.1093/brain/124.1.209

PubMed ID: 11781695

Title: An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.

PubMed ID: 11781695

DOI: 10.1038/sj.ejhg.5200712

PubMed ID: 14595656

Title: Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

PubMed ID: 14595656

DOI: 10.1002/ana.10734

PubMed ID: 35567411

Title: Leber's hereditary optic neuropathy (LHON)-associated ND6 14 484 T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.

PubMed ID: 35567411

DOI: 10.1093/hmg/ddac109

Sequence Information:

  • Length: 174
  • Mass: 18622
  • Checksum: E50CD9F3FAFC600D
  • Sequence:
    • MMYALFLLSV GLVMGFVGFS SKPSPIYGGL VLIVSGVVGC VIILNFGGGY MGLMVFLIYL 
GGMMVVFGYT TAMAIEEYPE AWGSGVEVLV SVLVGLAMEV GLVLWVKEYD GVVVVVNFNS 
VGSWMIYEGE GSGLIREDPI GAGALYDYGR WLVVVTGWTL FVGVYIVIEI ARGN

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.