Gene NDUFA4 - ENSG00000189043 | NCBI Gene ID: 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 Score score is 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: 5380
Cell Name: renal intercalated cell (CL0005010)
Fold Change: 5.24
Marker Score: 2792
Cell Name: cord blood hematopoietic stem cell (CL2000095)
Fold Change: 4.83
Marker Score: 3648
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 4.67
Marker Score: 7191
Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: 4.6
Marker Score: 5989
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 4.45
Marker Score: 11919
Cell Name: glycinergic neuron (CL1001509)
Fold Change: 4.37
Marker Score: 5271.5
Cell Name: radial glial cell (CL0000681)
Fold Change: 4.28
Marker Score: 1579
Cell Name: secretory cell (CL0000151)
Fold Change: 4.26
Marker Score: 7769
Cell Name: glycinergic amacrine cell (CL4030028)
Fold Change: 4.11
Marker Score: 3875
Cell Name: mesodermal cell (CL0000222)
Fold Change: 4.1
Marker Score: 54064
Cell Name: mature T cell (CL0002419)
Fold Change: 4.02
Marker Score: 39828.5
Cell Name: kidney collecting duct principal cell (CL1001431)
Fold Change: 3.98
Marker Score: 10047
Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 3.84
Marker Score: 2731
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 3.77
Marker Score: 13376
Cell Name: epithelial cell of lung (CL0000082)
Fold Change: 3.71
Marker Score: 19475.5
Cell Name: fetal cardiomyocyte (CL0002495)
Fold Change: 3.67
Marker Score: 1209
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 3.63
Marker Score: 3881
Cell Name: type II pneumocyte (CL0002063)
Fold Change: 3.62
Marker Score: 23611
Cell Name: embryonic stem cell (CL0002322)
Fold Change: 3.62
Marker Score: 1157
Cell Name: malignant cell (CL0001064)
Fold Change: 3.61
Marker Score: 48539
Cell Name: chondrocyte (CL0000138)
Fold Change: 3.59
Marker Score: 1614
Cell Name: retinal rod cell (CL0000604)
Fold Change: 3.58
Marker Score: 10212.5
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 3.57
Marker Score: 8729
Cell Name: supporting cell (CL0000630)
Fold Change: 3.55
Marker Score: 6677
Cell Name: lung secretory cell (CL1000272)
Fold Change: 3.54
Marker Score: 3156
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 3.53
Marker Score: 26277
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 3.49
Marker Score: 7945
Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 3.49
Marker Score: 5779
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 3.48
Marker Score: 3532
Cell Name: type I pneumocyte (CL0002062)
Fold Change: 3.45
Marker Score: 4159
Cell Name: skeletal muscle satellite cell (CL0000594)
Fold Change: 3.39
Marker Score: 2270
Cell Name: decidual natural killer cell, human (CL0002343)
Fold Change: 3.38
Marker Score: 9348
Cell Name: blood cell (CL0000081)
Fold Change: 3.38
Marker Score: 39317
Cell Name: myofibroblast cell (CL0000186)
Fold Change: 3.37
Marker Score: 4160
Cell Name: basophil (CL0000767)
Fold Change: 3.37
Marker Score: 1600
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 3.35
Marker Score: 21398
Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
Fold Change: 3.35
Marker Score: 29091
Cell Name: epithelial cell (CL0000066)
Fold Change: 3.34
Marker Score: 5311
Cell Name: mature alpha-beta T cell (CL0000791)
Fold Change: 3.31
Marker Score: 175143
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 3.31
Marker Score: 21534
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 3.31
Marker Score: 2822
Cell Name: serous secreting cell (CL0000313)
Fold Change: 3.27
Marker Score: 1307
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: 112696
Cell Name: erythroid progenitor cell (CL0000038)
Fold Change: 3.25
Marker Score: 3388
Cell Name: mature gamma-delta T cell (CL0000800)
Fold Change: 3.24
Marker Score: 10227
Cell Name: smooth muscle cell (CL0000192)
Fold Change: 3.23
Marker Score: 2127
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 3.22
Marker Score: 6549
Cell Name: professional antigen presenting cell (CL0000145)
Fold Change: 3.21
Marker Score: 1657.5
Cell Name: IgA plasma cell (CL0000987)
Fold Change: 3.19
Marker Score: 2721
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 3.19
Marker Score: 3386
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 3.19
Marker Score: 12292
Cell Name: intraepithelial lymphocyte (CL0002496)
Fold Change: 3.18
Marker Score: 3531
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 3.17
Marker Score: 1019
Cell Name: Kupffer cell (CL0000091)
Fold Change: 3.17
Marker Score: 3173.5
Cell Name: mucous neck cell (CL0000651)
Fold Change: 3.15
Marker Score: 7144
Cell Name: theca cell (CL0000503)
Fold Change: 3.14
Marker Score: 2253
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 3.14
Marker Score: 175736
Cell Name: ventricular cardiac muscle cell (CL2000046)
Fold Change: 3.14
Marker Score: 1303
Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
Fold Change: 3.13
Marker Score: 7944
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 3.12
Marker Score: 4421
Cell Name: germinal center B cell (CL0000844)
Fold Change: 3.12
Marker Score: 1897
Cell Name: T-helper 22 cell (CL0001042)
Fold Change: 3.12
Marker Score: 13365
Cell Name: lung macrophage (CL1001603)
Fold Change: 3.1
Marker Score: 3544.5
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 3.1
Marker Score: 24169.5
Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
Fold Change: 3.09
Marker Score: 5520
Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
Fold Change: 3.09
Marker Score: 1811
Cell Name: club cell (CL0000158)
Fold Change: 3.08
Marker Score: 3598
Cell Name: bronchus fibroblast of lung (CL2000093)
Fold Change: 3.08
Marker Score: 4228
Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 3.07
Marker Score: 5032.5
Cell Name: naive T cell (CL0000898)
Fold Change: 3.07
Marker Score: 1976
Cell Name: small pre-B-II cell (CL0000954)
Fold Change: 3.07
Marker Score: 3683.5
Cell Name: fibroblast of lung (CL0002553)
Fold Change: 3.06
Marker Score: 8005
Cell Name: Sertoli cell (CL0000216)
Fold Change: 3.06
Marker Score: 18127
Cell Name: type I NK T cell (CL0000921)
Fold Change: 3.05
Marker Score: 2396.5
Cell Name: capillary endothelial cell (CL0002144)
Fold Change: 3.05
Marker Score: 3278.5
Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 3.04
Marker Score: 2399
Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: 3.03
Marker Score: 1906
Cell Name: endothelial cell (CL0000115)
Fold Change: 3.03
Marker Score: 2719
Cell Name: stromal cell (CL0000499)
Fold Change: 3.03
Marker Score: 3547
Cell Name: kidney loop of Henle epithelial cell (CL1000909)
Fold Change: 3.02
Marker Score: 1893
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: 3253
Cell Name: endothelial cell of uterus (CL0009095)
Fold Change: 2.98
Marker Score: 5956
Cell Name: pneumocyte (CL0000322)
Fold Change: 2.98
Marker Score: 4786
Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
Fold Change: 2.98
Marker Score: 2613
Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
Fold Change: 2.95
Marker Score: 4176
Cell Name: rod bipolar cell (CL0000751)
Fold Change: 2.94
Marker Score: 1537
Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
Fold Change: 2.93
Marker Score: 2743
Cell Name: tracheobronchial serous cell (CL0019001)
Fold Change: 2.93
Marker Score: 1070
Cell Name: memory B cell (CL0000787)
Fold Change: 2.92
Marker Score: 2211
Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
Fold Change: 2.92
Marker Score: 7117
Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
Fold Change: 2.91
Marker Score: 8163
Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
Fold Change: 2.91
Marker Score: 8492
Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
Fold Change: 2.9
Marker Score: 2445
Cell Name: DN3 thymocyte (CL0000807)
Fold Change: 2.9
Marker Score: 1450
Cell Name: activated CD4-positive, alpha-beta T cell, human (CL0001043)
Fold Change: 2.9
Marker Score: 1318
Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
Fold Change: 2.9
Marker Score: 4191
Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
Fold Change: 2.89
Marker Score: 4964

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**Key characteristics:** - NDUFA4 is a large protein with a molecular weight of approximately 180 kDa. - It is a member of the mitochondrial complex I family of NADH-dependent oxidoreductases. - NDUFA4 is required for the assembly and function of cytochrome c oxidase, a complex that is responsible for energy production in the mitochondria. - It is also involved in the regulation of cellular respiration and stress responses. **Pathways and functions:** - NDUFA4 is involved in the citric acid (tca) cycle and respiratory electron transport pathways, which are responsible for the production of energy in the mitochondria. - It is also involved in the regulation of the TP53 tumor suppressor gene, which is a key regulator of cellular metabolism. **Clinical significance:** - Mutations in NDUFA4 have been linked to a number of human diseases, including mitochondrial disorders and cancer. - These diseases are characterized by a decrease in the activity of cytochrome c oxidase, which is a complex that is involved in energy production. - Targeting NDUFA4 with drugs is a promising strategy for treating these 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. 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