Details for: NDUFA6

Gene ID: 4700

Symbol: NDUFA6

Ensembl ID: ENSG00000184983

Description: NADH:ubiquinone oxidoreductase subunit A6

Associated with

  • Complex i biogenesis
    (R-HSA-6799198)
  • Metabolism
    (R-HSA-1430728)
  • Respiratory electron transport
    (R-HSA-611105)
  • Respiratory electron transport, atp synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    (R-HSA-163200)
  • The citric acid (tca) cycle and respiratory electron transport
    (R-HSA-1428517)
  • Aerobic respiration
    (GO:0009060)
  • Mitochondrial electron transport, nadh to ubiquinone
    (GO:0006120)
  • Mitochondrial inner membrane
    (GO:0005743)
  • Mitochondrial membrane
    (GO:0031966)
  • Mitochondrial respiratory chain complex i
    (GO:0005747)
  • Mitochondrial respiratory chain complex i assembly
    (GO:0032981)
  • Nadh dehydrogenase (ubiquinone) activity
    (GO:0008137)
  • Proton motive force-driven mitochondrial atp synthesis
    (GO:0042776)
  • Response to oxidative stress
    (GO:0006979)

Cells (max top 100)

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

  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 5.14
    Marker Score: 3441
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 4.31
    Marker Score: 1263
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 3.81
    Marker Score: 2687
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 3.63
    Marker Score: 3243
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 3.56
    Marker Score: 1477
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 3.51
    Marker Score: 2129
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 2.81
    Marker Score: 1497.5
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.8
    Marker Score: 4634.5
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 2.77
    Marker Score: 2891.5
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.63
    Marker Score: 12630
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.59
    Marker Score: 8141
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.55
    Marker Score: 6225
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 2.49
    Marker Score: 818
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 2.48
    Marker Score: 916
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 2.46
    Marker Score: 32421
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.46
    Marker Score: 21167
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.44
    Marker Score: 6551
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 2.43
    Marker Score: 2065
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 2.41
    Marker Score: 17954
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 2.34
    Marker Score: 18240
  • Cell Name: blood cell (CL0000081)
    Fold Change: 2.33
    Marker Score: 27130.5
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 2.24
    Marker Score: 4668.5
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.23
    Marker Score: 9598
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 2.22
    Marker Score: 1980
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 2.22
    Marker Score: 21943
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.2
    Marker Score: 1732.5
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 2.19
    Marker Score: 4274
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 2.19
    Marker Score: 3152.5
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 2.19
    Marker Score: 3514
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.18
    Marker Score: 8570
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 2.18
    Marker Score: 869
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.18
    Marker Score: 8392
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.17
    Marker Score: 5471
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.15
    Marker Score: 3307.5
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.14
    Marker Score: 72842.5
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 2.11
    Marker Score: 7828
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 2.1
    Marker Score: 13650
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 2.08
    Marker Score: 1108
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 2.08
    Marker Score: 2205
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.07
    Marker Score: 20865
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 2.07
    Marker Score: 4864.5
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.07
    Marker Score: 4200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.06
    Marker Score: 13175
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 2.06
    Marker Score: 2409
  • Cell Name: stem cell (CL0000034)
    Fold Change: 2.05
    Marker Score: 4858
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 2.04
    Marker Score: 1161
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 2.04
    Marker Score: 1958
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 2.04
    Marker Score: 5558.5
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 2.04
    Marker Score: 3248
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 2.04
    Marker Score: 2157
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 2.04
    Marker Score: 1918
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 2.04
    Marker Score: 3340.5
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 2.02
    Marker Score: 3107
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 2.01
    Marker Score: 1109.5
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 2.01
    Marker Score: 3422
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 2.01
    Marker Score: 2839
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 2
    Marker Score: 26669
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 2
    Marker Score: 2827
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.99
    Marker Score: 50901.5
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 1.99
    Marker Score: 1025
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.98
    Marker Score: 1997.5
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.98
    Marker Score: 5475
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.98
    Marker Score: 1439.5
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.97
    Marker Score: 12857
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.97
    Marker Score: 1316
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.97
    Marker Score: 2046.5
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.97
    Marker Score: 2123
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.97
    Marker Score: 2104
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.96
    Marker Score: 5602
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.96
    Marker Score: 17023
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 1.94
    Marker Score: 1001
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.93
    Marker Score: 1960
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.93
    Marker Score: 1211.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.92
    Marker Score: 2833.5
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 1.92
    Marker Score: 7957
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.91
    Marker Score: 2031
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.91
    Marker Score: 2307
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 1.91
    Marker Score: 1064
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.91
    Marker Score: 1796
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.91
    Marker Score: 2535
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.91
    Marker Score: 66010
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.9
    Marker Score: 11289
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.9
    Marker Score: 1199
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.9
    Marker Score: 2293
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.9
    Marker Score: 1790
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.89
    Marker Score: 105937
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.89
    Marker Score: 942
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.89
    Marker Score: 21271
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.87
    Marker Score: 4236
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.87
    Marker Score: 6626
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.86
    Marker Score: 883
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 1.86
    Marker Score: 594.5
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.85
    Marker Score: 11772
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 1.84
    Marker Score: 830
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 1.84
    Marker Score: 459
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 1.83
    Marker Score: 459
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.81
    Marker Score: 752
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.8
    Marker Score: 4900
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 1.8
    Marker Score: 1104
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.8
    Marker Score: 3375

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Other Information

**Key Characteristics** NDUFA6 is a mitochondrial gene that encodes a subunit of Complex I, a crucial component of the mitochondrial respiratory chain. The NDUFA6 protein is a flavoprotein, containing a FAD cofactor that plays a key role in electron transfer reactions. The gene is expressed in various cell types, including muscle cells, immune cells, and cells involved in the placenta and kidney. Notably, NDUFA6 is one of the most highly expressed genes in skeletal muscle satellite cells, highlighting its importance in muscle function and development. **Pathways and Functions** NDUFA6 plays a central role in the mitochondrial respiratory chain, specifically in Complex I. The NDUFA6 protein is involved in the following pathways: 1. **Aerobic respiration**: Complex I is responsible for transferring electrons from NADH to ubiquinone, generating a proton gradient that drives ATP synthesis. 2. **Mitochondrial electron transport**: NDUFA6 is a key component of the mitochondrial respiratory chain, contributing to the transfer of electrons and the generation of the proton gradient. 3. **Proton motive force-driven mitochondrial ATP synthesis**: The proton gradient generated by Complex I drives the production of ATP through chemiosmosis. 4. **Heat production by uncoupling proteins**: NDUFA6 is also involved in the regulation of heat production by uncoupling proteins, which can influence cellular temperature regulation. **Clinical Significance** Mutations or alterations in the NDUFA6 gene have been linked to various diseases, including: 1. **Mitochondrial myopathies**: Mutations in NDUFA6 have been associated with mitochondrial myopathies, a group of disorders characterized by muscle weakness and fatigue. 2. **Neuropathies**: NDUFA6 mutations have also been linked to neuropathies, conditions characterized by nerve damage and dysfunction. 3. **Oxidative stress**: Alterations in NDUFA6 expression have been observed in cells exposed to oxidative stress, highlighting the gene's role in regulating cellular response to oxidative damage. In conclusion, the NDUFA6 gene plays a critical role in maintaining cellular energy metabolism and overall health. Its importance in the mitochondrial respiratory chain and its association with various diseases highlight the need for further research into the functions and dysregulation of this gene.

Genular Protein ID: 2350058583

Symbol: NDUA6_HUMAN

Name: Complex I-B14

UniProtKB Accession Codes:

P56556 B2RE54 O43675 Q6FGW0 Q6IBT8 Q6IC39

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EMBL 9 EPD 1 Ensembl 5 ExpressionAtlas 1 GO 9 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 4 PIR 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9425316

Title: Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits.

PubMed ID: 9425316

DOI: 10.1006/bbrc.1997.7707

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 12611891

Title: The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.

PubMed ID: 12611891

DOI: 10.1074/jbc.c300064200

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27626371

Title: Accessory subunits are integral for assembly and function of human mitochondrial complex I.

PubMed ID: 27626371

DOI: 10.1038/nature19754

PubMed ID: 30245030

Title: Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency.

PubMed ID: 30245030

DOI: 10.1016/j.ajhg.2018.08.013

Sequence Information:

  • Length: 128
  • Mass: 15137
  • Checksum: 5EE10C571A659D8B
  • Sequence:
    • MAGSGVRQAT STASTFVKPI FSRDMNEAKR RVRELYRAWY REVPNTVHQF QLDITVKMGR 
DKVREMFMKN AHVTDPRVVD LLVIKGKIEL EETIKVWKQR THVMRFFHET EAPRPKDFLS 
KFYVGHDP

Genular Protein ID: 33212225

Symbol: A0A2Y9D025_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A2Y9D025

Database IDs:

ARBA 4 Antibodypedia 1 Bgee 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 EPD 1 Ensembl 5 GO 1 GeneTree 1 HGNC 1 InterPro 2 KEGG 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 Pfam 1 Proteomes 2 RefSeq 1 VEuPathDB 1

Citations:

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 25944712

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

PubMed ID: 25944712

Sequence Information:

  • Length: 154
  • Mass: 17871
  • Checksum: C3423B7B75A6336A
  • Sequence:
    • MGKDIRPRSA RAACKGVGLW SGCFGKMAGS GVRQATSTAS TFVKPIFSRD MNEAKRRVRE 
LYRAWYREVP NTVHQFQLDI TVKMGRDKVR EMFMKNAHVT DPRVVDLLVI KGKIELEETI 
KVWKQRTHVM RFFHETEAPR PKDFLSKFYV GHDP

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.