Details for: NDUFA4

Gene ID: 4697

Symbol: NDUFA4

Ensembl ID: ENSG00000189043

Description: NDUFA4 mitochondrial complex associated

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: 876.5296
    Cell Significance Index: -136.3400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 523.0375
    Cell Significance Index: -132.6700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 410.5619
    Cell Significance Index: -169.1300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 350.8410
    Cell Significance Index: -165.6400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 348.8185
    Cell Significance Index: -141.7100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 311.2453
    Cell Significance Index: -160.1000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 249.9619
    Cell Significance Index: -167.7300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 150.4279
    Cell Significance Index: -143.6200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 129.7492
    Cell Significance Index: -159.9800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 43.5879
    Cell Significance Index: -172.0000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 40.6550
    Cell Significance Index: -124.8700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 35.6868
    Cell Significance Index: -95.6000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 10.5265
    Cell Significance Index: 552.6800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 6.8561
    Cell Significance Index: 158.4000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 5.9917
    Cell Significance Index: 279.3600
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 5.8766
    Cell Significance Index: 46.9200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 5.2494
    Cell Significance Index: 246.7200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 4.9964
    Cell Significance Index: 131.3800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 4.8818
    Cell Significance Index: 670.4100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 4.5040
    Cell Significance Index: 811.9300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 4.4927
    Cell Significance Index: 334.8400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 4.3023
    Cell Significance Index: 2349.6100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 4.2714
    Cell Significance Index: 525.2100
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 4.1892
    Cell Significance Index: 32.2900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 4.0923
    Cell Significance Index: 142.2100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 3.8560
    Cell Significance Index: 498.1700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 3.7284
    Cell Significance Index: 263.6900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 3.7150
    Cell Significance Index: 34.2100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 3.6917
    Cell Significance Index: 435.3600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 3.6800
    Cell Significance Index: 471.7500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 3.5630
    Cell Significance Index: 74.5800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 3.5381
    Cell Significance Index: 1564.2700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 2.7754
    Cell Significance Index: 31.5300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.6246
    Cell Significance Index: 71.4400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.3050
    Cell Significance Index: 67.7000
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 1.9267
    Cell Significance Index: 11.8600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.9252
    Cell Significance Index: 124.2100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.6787
    Cell Significance Index: 18.2500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 1.5823
    Cell Significance Index: 1160.1200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 1.4944
    Cell Significance Index: 118.3600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.2618
    Cell Significance Index: 79.5300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0989
    Cell Significance Index: 220.4400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.0975
    Cell Significance Index: 14.0600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.0824
    Cell Significance Index: 184.8200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 1.0777
    Cell Significance Index: 815.7200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7644
    Cell Significance Index: 39.7100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.7399
    Cell Significance Index: 13.0800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5501
    Cell Significance Index: 109.1700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.5410
    Cell Significance Index: 10.0000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5022
    Cell Significance Index: 180.1400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2902
    Cell Significance Index: 55.2200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.2214
    Cell Significance Index: 3.7100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1773
    Cell Significance Index: 10.9000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1207
    Cell Significance Index: 5.4700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0959
    Cell Significance Index: 2.5600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0117
    Cell Significance Index: 0.6100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0305
    Cell Significance Index: -57.3700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0362
    Cell Significance Index: -26.8000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0737
    Cell Significance Index: -7.5300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0941
    Cell Significance Index: -173.6300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.1097
    Cell Significance Index: -168.8800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.1362
    Cell Significance Index: -185.1400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.1492
    Cell Significance Index: -14.7600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1524
    Cell Significance Index: -96.8200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1603
    Cell Significance Index: -100.1000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.2037
    Cell Significance Index: -114.9000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.2270
    Cell Significance Index: -103.0300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2305
    Cell Significance Index: -3.9500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3868
    Cell Significance Index: -44.3100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.3877
    Cell Significance Index: -11.1700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.4760
    Cell Significance Index: -136.9600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.5387
    Cell Significance Index: -113.4600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.5615
    Cell Significance Index: -91.3200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.7104
    Cell Significance Index: -82.7900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.7308
    Cell Significance Index: -18.6700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.7614
    Cell Significance Index: -21.8300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.7841
    Cell Significance Index: -19.6000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.8372
    Cell Significance Index: -95.5700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.8524
    Cell Significance Index: -123.9100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -1.1120
    Cell Significance Index: -85.3300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.1590
    Cell Significance Index: -25.1100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -1.2281
    Cell Significance Index: -14.6400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -1.3000
    Cell Significance Index: -36.3300
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -1.3510
    Cell Significance Index: -28.1800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -1.4485
    Cell Significance Index: -97.4000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.5131
    Cell Significance Index: -84.9100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -1.5757
    Cell Significance Index: -164.0700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -1.5888
    Cell Significance Index: -95.3800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.7416
    Cell Significance Index: -55.7800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -1.9096
    Cell Significance Index: -67.1000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -2.0226
    Cell Significance Index: -54.1000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -2.1060
    Cell Significance Index: -17.6900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -2.4940
    Cell Significance Index: -37.3700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -2.7185
    Cell Significance Index: -166.6700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -2.7661
    Cell Significance Index: -37.7400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -2.8587
    Cell Significance Index: -84.2000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -3.0294
    Cell Significance Index: -44.7300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -3.1466
    Cell Significance Index: -139.1800
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: -3.2853
    Cell Significance Index: -28.9400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -3.4595
    Cell Significance Index: -84.4100

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:** NDUFA4 is a mitochondrial complex I subunit, comprising 7 subunits, and is encoded by the NDUFA4 gene. It is a crucial component of the electron transport chain, responsible for the transfer of electrons from NADH to ubiquinone. This process is essential for the production of ATP, the primary energy currency of the cell. NDUFA4 is highly expressed in various tissues, including the thyroid, kidney, and hematopoietic stem cells, and is involved in maintaining cellular homeostasis and regulating cellular responses to stress. **Pathways and Functions:** NDUFA4 is integral to several cellular pathways, including: 1. **Cellular Respiration:** NDUFA4 is a critical component of the electron transport chain, facilitating the transfer of electrons from NADH to ubiquinone, thereby driving the production of ATP. 2. **Cytoprotection by Hmox1:** NDUFA4 interacts with the enzyme heme oxygenase-1 (Hmox1), which plays a role in protecting cells against oxidative stress. 3. **Gene Expression (Transcription):** NDUFA4 is involved in regulating gene expression, particularly in response to cellular stress and oxidative damage. 4. **Metabolism:** NDUFA4 is essential for maintaining cellular metabolism, particularly in energy-producing tissues such as the thyroid and kidney. **Clinical Significance:** Dysregulation of NDUFA4 has been implicated in various diseases, including: 1. **Mitochondrial Diseases:** Mutations in the NDUFA4 gene have been associated with mitochondrial myopathies, such as Kearns-Sayre syndrome and MERRF syndrome. 2. **Cancer:** Altered expression of NDUFA4 has been observed in various types of cancer, including breast, lung, and colon cancer. 3. **Neurodegenerative Diseases:** NDUFA4 has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 4. **Thyroid Disorders:** NDUFA4 expression is altered in thyroid disorders, including hyperthyroidism and hypothyroidism. In conclusion, NDUFA4 plays a vital role in maintaining mitochondrial function and regulating cellular responses to stress. Dysregulation of NDUFA4 has been implicated in various diseases, highlighting the importance of this gene in human health and disease. Further research is needed to fully elucidate the mechanisms by which NDUFA4 regulates cellular function and to identify novel therapeutic targets for the treatment of mitochondrial-related diseases.

Genular Protein ID: 2299174111

Symbol: NDUA4_HUMAN

Name: Cytochrome c oxidase subunit NDUFA4

UniProtKB Accession Codes:

O00483 A4D109 Q6FHN5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EMBL 9 Ensembl 1 ExpressionAtlas 1 GO 10 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 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 4 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9352085

Title: Cloning of the human cDNA sequence encoding the NADH:ubiquinone oxidoreductase MLRQ subunit.

PubMed ID: 9352085

DOI: 10.1080/15216549700204471

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

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: 22902835

Title: NDUFA4 is a subunit of complex IV of the mammalian electron transport chain.

PubMed ID: 22902835

DOI: 10.1016/j.cmet.2012.07.015

PubMed ID: 23746447

Title: NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

PubMed ID: 23746447

DOI: 10.1016/j.celrep.2013.05.005

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 31536960

Title: Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis.

PubMed ID: 31536960

DOI: 10.1016/j.isci.2019.08.057

PubMed ID: 30030519

Title: Structure of the intact 14-subunit human cytochrome c oxidase.

PubMed ID: 30030519

DOI: 10.1038/s41422-018-0071-1

Sequence Information:

  • Length: 81
  • Mass: 9370
  • Checksum: 2FA1D1115EDE24C7
  • Sequence:
    • MLRQIIGQAK KHPSLIPLFV FIGTGATGAT LYLLRLALFN PDVCWDRNNP EPWNKLGPND 
QYKFYSVNVD YSKLKKERPD F

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.