NDUFA4 | ENSG00000189043 | NCBI 4697

Details for: NDUFA4

Gene ID: 4697

Symbol: NDUFA4

Ensembl ID: ENSG00000189043

Description: NDUFA4 mitochondrial complex associated

Associated with

Cellular responses to stimuli
(R-HSA-8953897)
Cellular responses to stress
(R-HSA-2262752)
Cellular response to chemical stress
(R-HSA-9711123)
Cytoprotection by hmox1
(R-HSA-9707564)
Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
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)
Rna polymerase ii transcription
(R-HSA-73857)
The citric acid (tca) cycle and respiratory electron transport
(R-HSA-1428517)
Tp53 regulates metabolic genes
(R-HSA-5628897)
Transcriptional regulation by tp53
(R-HSA-3700989)
Cellular respiration
(GO:0045333)
Mitochondrial electron transport, cytochrome c to oxygen
(GO:0006123)
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 iv
(GO:0005751)
Mitochondrion
(GO:0005739)
Nadh dehydrogenase (ubiquinone) activity
(GO:0008137)
Positive regulation of cytochrome-c oxidase activity
(GO:1904960)
Protein-containing complex binding
(GO:0044877)
Protein binding
(GO:0005515)

Cells (max top 100)

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

Cell Name: thyroid follicular cell (CL0002258)
Fold Change: 6.87
Marker Score: 5,380
Cell Name: renal intercalated cell (CL0005010)
Fold Change: 5.24
Marker Score: 2,792
Cell Name: cord blood hematopoietic stem cell (CL2000095)
Fold Change: 4.83
Marker Score: 3,648
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 4.67
Marker Score: 7,191
Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: 4.6
Marker Score: 5,989
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 4.45
Marker Score: 11,919
Cell Name: glycinergic neuron (CL1001509)
Fold Change: 4.37
Marker Score: 5,272
Cell Name: radial glial cell (CL0000681)
Fold Change: 4.28
Marker Score: 1,579
Cell Name: secretory cell (CL0000151)
Fold Change: 4.26
Marker Score: 7,769
Cell Name: glycinergic amacrine cell (CL4030028)
Fold Change: 4.11
Marker Score: 3,875
Cell Name: mesodermal cell (CL0000222)
Fold Change: 4.1
Marker Score: 54,064
Cell Name: mature T cell (CL0002419)
Fold Change: 4.02
Marker Score: 39,829
Cell Name: kidney collecting duct principal cell (CL1001431)
Fold Change: 3.98
Marker Score: 10,047
Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 3.84
Marker Score: 2,731
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 3.77
Marker Score: 13,376
Cell Name: epithelial cell of lung (CL0000082)
Fold Change: 3.71
Marker Score: 19,476
Cell Name: fetal cardiomyocyte (CL0002495)
Fold Change: 3.67
Marker Score: 1,209
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 3.63
Marker Score: 3,881
Cell Name: type II pneumocyte (CL0002063)
Fold Change: 3.62
Marker Score: 23,611
Cell Name: embryonic stem cell (CL0002322)
Fold Change: 3.62
Marker Score: 1,157
Cell Name: malignant cell (CL0001064)
Fold Change: 3.61
Marker Score: 48,539
Cell Name: chondrocyte (CL0000138)
Fold Change: 3.59
Marker Score: 1,614
Cell Name: retinal rod cell (CL0000604)
Fold Change: 3.58
Marker Score: 10,213
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 3.57
Marker Score: 8,729
Cell Name: supporting cell (CL0000630)
Fold Change: 3.55
Marker Score: 6,677
Cell Name: lung secretory cell (CL1000272)
Fold Change: 3.54
Marker Score: 3,156
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 3.53
Marker Score: 26,277
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 3.49
Marker Score: 7,945
Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 3.49
Marker Score: 5,779
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 3.48
Marker Score: 3,532
Cell Name: type I pneumocyte (CL0002062)
Fold Change: 3.45
Marker Score: 4,159
Cell Name: skeletal muscle satellite cell (CL0000594)
Fold Change: 3.39
Marker Score: 2,270
Cell Name: decidual natural killer cell, human (CL0002343)
Fold Change: 3.38
Marker Score: 9,348
Cell Name: blood cell (CL0000081)
Fold Change: 3.38
Marker Score: 39,317
Cell Name: myofibroblast cell (CL0000186)
Fold Change: 3.37
Marker Score: 4,160
Cell Name: basophil (CL0000767)
Fold Change: 3.37
Marker Score: 1,600
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 3.35
Marker Score: 21,398
Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
Fold Change: 3.35
Marker Score: 29,091
Cell Name: epithelial cell (CL0000066)
Fold Change: 3.34
Marker Score: 5,311
Cell Name: mature alpha-beta T cell (CL0000791)
Fold Change: 3.31
Marker Score: 175,143
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 3.31
Marker Score: 21,534
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 3.31
Marker Score: 2,822
Cell Name: serous secreting cell (CL0000313)
Fold Change: 3.27
Marker Score: 1,307
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 3.27
Marker Score: 782
Cell Name: cell in vitro (CL0001034)
Fold Change: 3.25
Marker Score: 112,696
Cell Name: erythroid progenitor cell (CL0000038)
Fold Change: 3.25
Marker Score: 3,388
Cell Name: mature gamma-delta T cell (CL0000800)
Fold Change: 3.24
Marker Score: 10,227
Cell Name: smooth muscle cell (CL0000192)
Fold Change: 3.23
Marker Score: 2,127
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 3.22
Marker Score: 6,549
Cell Name: professional antigen presenting cell (CL0000145)
Fold Change: 3.21
Marker Score: 1,658
Cell Name: IgA plasma cell (CL0000987)
Fold Change: 3.19
Marker Score: 2,721
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 3.19
Marker Score: 3,386
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 3.19
Marker Score: 12,292
Cell Name: intraepithelial lymphocyte (CL0002496)
Fold Change: 3.18
Marker Score: 3,531
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 3.17
Marker Score: 1,019
Cell Name: Kupffer cell (CL0000091)
Fold Change: 3.17
Marker Score: 3,174
Cell Name: mucous neck cell (CL0000651)
Fold Change: 3.15
Marker Score: 7,144
Cell Name: theca cell (CL0000503)
Fold Change: 3.14
Marker Score: 2,253
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 3.14
Marker Score: 175,736
Cell Name: ventricular cardiac muscle cell (CL2000046)
Fold Change: 3.14
Marker Score: 1,303
Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
Fold Change: 3.13
Marker Score: 7,944
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 3.12
Marker Score: 4,421
Cell Name: germinal center B cell (CL0000844)
Fold Change: 3.12
Marker Score: 1,897
Cell Name: T-helper 22 cell (CL0001042)
Fold Change: 3.12
Marker Score: 13,365
Cell Name: lung macrophage (CL1001603)
Fold Change: 3.1
Marker Score: 3,545
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 3.1
Marker Score: 24,170
Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
Fold Change: 3.09
Marker Score: 5,520
Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
Fold Change: 3.09
Marker Score: 1,811
Cell Name: club cell (CL0000158)
Fold Change: 3.08
Marker Score: 3,598
Cell Name: bronchus fibroblast of lung (CL2000093)
Fold Change: 3.08
Marker Score: 4,228
Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 3.07
Marker Score: 5,033
Cell Name: naive T cell (CL0000898)
Fold Change: 3.07
Marker Score: 1,976
Cell Name: small pre-B-II cell (CL0000954)
Fold Change: 3.07
Marker Score: 3,684
Cell Name: fibroblast of lung (CL0002553)
Fold Change: 3.06
Marker Score: 8,005
Cell Name: Sertoli cell (CL0000216)
Fold Change: 3.06
Marker Score: 18,127
Cell Name: type I NK T cell (CL0000921)
Fold Change: 3.05
Marker Score: 2,397
Cell Name: capillary endothelial cell (CL0002144)
Fold Change: 3.05
Marker Score: 3,279
Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 3.04
Marker Score: 2,399
Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: 3.03
Marker Score: 1,906
Cell Name: endothelial cell (CL0000115)
Fold Change: 3.03
Marker Score: 2,719
Cell Name: stromal cell (CL0000499)
Fold Change: 3.03
Marker Score: 3,547
Cell Name: kidney loop of Henle epithelial cell (CL1000909)
Fold Change: 3.02
Marker Score: 1,893
Cell Name: bronchial epithelial cell (CL0002328)
Fold Change: 3
Marker Score: 794
Cell Name: CD4-positive helper T cell (CL0000492)
Fold Change: 2.99
Marker Score: 3,253
Cell Name: endothelial cell of uterus (CL0009095)
Fold Change: 2.98
Marker Score: 5,956
Cell Name: pneumocyte (CL0000322)
Fold Change: 2.98
Marker Score: 4,786
Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
Fold Change: 2.98
Marker Score: 2,613
Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
Fold Change: 2.95
Marker Score: 4,176
Cell Name: rod bipolar cell (CL0000751)
Fold Change: 2.94
Marker Score: 1,537
Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
Fold Change: 2.93
Marker Score: 2,743
Cell Name: tracheobronchial serous cell (CL0019001)
Fold Change: 2.93
Marker Score: 1,070
Cell Name: memory B cell (CL0000787)
Fold Change: 2.92
Marker Score: 2,211
Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
Fold Change: 2.92
Marker Score: 7,117
Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
Fold Change: 2.91
Marker Score: 8,163
Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
Fold Change: 2.91
Marker Score: 8,492
Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
Fold Change: 2.9
Marker Score: 2,445
Cell Name: DN3 thymocyte (CL0000807)
Fold Change: 2.9
Marker Score: 1,450
Cell Name: activated CD4-positive, alpha-beta T cell, human (CL0001043)
Fold Change: 2.9
Marker Score: 1,318
Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
Fold Change: 2.9
Marker Score: 4,191
Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
Fold Change: 2.89
Marker Score: 4,964

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

**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.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Cytochrome c oxidase subunit NDUFA4

Genular Protein ID: 2299174111

Symbol: NDUA4_HUMAN

Name: Cytochrome c oxidase subunit NDUFA4

UniProtKB Accession Codes:

O00483 A4D109 Q6FHN5

Database IDs:

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.

Details for: NDUFA4

Associated with

Cells (max top 100)

Other Information

Cloning of the human cDNA sequence encoding the NADH:ubiquinone oxidoreductase MLRQ subunit. PubMed ID: 9352085

Human chromosome 7: DNA sequence and biology. PubMed ID: 12690205

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. PubMed ID: 12611891

Initial characterization of the human central proteome. PubMed ID: 21269460

NDUFA4 is a subunit of complex IV of the mammalian electron transport chain. PubMed ID: 22902835

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. PubMed ID: 23746447

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. PubMed ID: 31536960

Structure of the intact 14-subunit human cytochrome c oxidase. PubMed ID: 30030519