Details for: NDUFAF4

Gene ID: 29078

Symbol: NDUFAF4

Ensembl ID: ENSG00000123545

Description: NADH:ubiquinone oxidoreductase complex assembly factor 4

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: 162.2679
    Cell Significance Index: -25.2400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 91.3093
    Cell Significance Index: -23.1600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 71.0770
    Cell Significance Index: -29.2800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 61.5094
    Cell Significance Index: -29.0400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 61.0020
    Cell Significance Index: -24.7800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 55.6198
    Cell Significance Index: -28.6100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 43.2773
    Cell Significance Index: -29.0400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 26.3526
    Cell Significance Index: -25.1600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 22.6772
    Cell Significance Index: -27.9600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.4140
    Cell Significance Index: -22.5400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.3491
    Cell Significance Index: -29.0000
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 2.4160
    Cell Significance Index: 25.6700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.9646
    Cell Significance Index: 117.9500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.7987
    Cell Significance Index: 48.9600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.6643
    Cell Significance Index: 1502.7400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 1.6417
    Cell Significance Index: 13.7900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0612
    Cell Significance Index: 172.6000
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.8251
    Cell Significance Index: 6.2300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.8147
    Cell Significance Index: 56.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.7996
    Cell Significance Index: 93.1900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.7874
    Cell Significance Index: 8.5600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.7276
    Cell Significance Index: 51.4600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.6933
    Cell Significance Index: 18.2300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6661
    Cell Significance Index: 65.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6625
    Cell Significance Index: 30.0300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.6368
    Cell Significance Index: 82.2800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5548
    Cell Significance Index: 111.3000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.5381
    Cell Significance Index: 28.2500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5131
    Cell Significance Index: 32.3400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5092
    Cell Significance Index: 62.6100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5065
    Cell Significance Index: 91.3100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5011
    Cell Significance Index: 221.5600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4845
    Cell Significance Index: 25.1700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4824
    Cell Significance Index: 13.9000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.4293
    Cell Significance Index: 20.1800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4288
    Cell Significance Index: 54.9700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4270
    Cell Significance Index: 9.2500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3914
    Cell Significance Index: 18.2500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3811
    Cell Significance Index: 28.4100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.3803
    Cell Significance Index: 7.9600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.3544
    Cell Significance Index: 10.1600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3429
    Cell Significance Index: 40.4400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3264
    Cell Significance Index: 178.2700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3203
    Cell Significance Index: 4.3700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3195
    Cell Significance Index: 63.4100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3105
    Cell Significance Index: 23.8300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2967
    Cell Significance Index: 40.7400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.1630
    Cell Significance Index: 4.8000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.1605
    Cell Significance Index: 2.3700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1545
    Cell Significance Index: 55.4300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.1328
    Cell Significance Index: 1.0600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1200
    Cell Significance Index: 7.7500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1116
    Cell Significance Index: 3.1200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0789
    Cell Significance Index: 15.0100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0348
    Cell Significance Index: 0.9300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0284
    Cell Significance Index: 0.9100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0270
    Cell Significance Index: 18.6600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0191
    Cell Significance Index: 13.9900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0107
    Cell Significance Index: 8.1200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0057
    Cell Significance Index: 0.1000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0037
    Cell Significance Index: 0.1300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0007
    Cell Significance Index: -1.2600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0092
    Cell Significance Index: -16.9900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0129
    Cell Significance Index: -8.2200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0133
    Cell Significance Index: -2.2700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0148
    Cell Significance Index: -22.7800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0196
    Cell Significance Index: -26.6100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0225
    Cell Significance Index: -0.6600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0257
    Cell Significance Index: -3.7300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0302
    Cell Significance Index: -3.0900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0317
    Cell Significance Index: -1.1000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0324
    Cell Significance Index: -24.0100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0340
    Cell Significance Index: -15.4100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0398
    Cell Significance Index: -4.5600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0438
    Cell Significance Index: -24.6800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0474
    Cell Significance Index: -1.2100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0507
    Cell Significance Index: -31.6800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0787
    Cell Significance Index: -22.6500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0812
    Cell Significance Index: -1.7300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0914
    Cell Significance Index: -1.6200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1376
    Cell Significance Index: -8.4600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1465
    Cell Significance Index: -30.8500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1472
    Cell Significance Index: -7.6700
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1473
    Cell Significance Index: -0.8900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1712
    Cell Significance Index: -3.9600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2048
    Cell Significance Index: -13.7700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2208
    Cell Significance Index: -17.4900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2236
    Cell Significance Index: -2.3200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2629
    Cell Significance Index: -11.6300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2668
    Cell Significance Index: -14.9700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2694
    Cell Significance Index: -3.0600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2718
    Cell Significance Index: -28.3000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2970
    Cell Significance Index: -7.6400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3045
    Cell Significance Index: -11.5300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3344
    Cell Significance Index: -8.9500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3381
    Cell Significance Index: -9.0600
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3935
    Cell Significance Index: -9.6000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4169
    Cell Significance Index: -4.9700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4203
    Cell Significance Index: -25.7700
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.4393
    Cell Significance Index: -2.7500

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:** NDUFAF4 is a mitochondrial protein that belongs to the NADH dehydrogenase (Complex I) assembly factor family. It is specifically involved in the assembly of the α subunit of Complex I, a critical step in the biogenesis of this complex. NDUFAF4 exhibits high expression levels in various cell types, including neural progenitor cells, pancreatic acinar cells, and erythroid progenitor cells. Its expression is also observed in cells undergoing rapid proliferation, such as skeletal muscle satellite stem cells and osteoclasts. **Pathways and Functions:** NDUFAF4 is integral to several critical cellular pathways, including: 1. **Mitochondrial Respiratory Chain Complex I Assembly:** NDUFAF4 plays a crucial role in the assembly of Complex I, which is essential for the production of ATP through oxidative phosphorylation. 2. **Calmodulin Binding:** NDUFAF4 interacts with calmodulin, a calcium-binding protein that regulates various cellular processes, including muscle contraction and cell signaling. 3. **Defense Response to Virus:** NDUFAF4 has been implicated in the regulation of innate immune responses against viral infections, suggesting a potential role in antiviral defense. 4. **Apoptosis Regulation:** NDUFAF4 has been shown to negatively regulate apoptosis (programmed cell death), suggesting its involvement in maintaining cellular homeostasis. 5. **Cell Proliferation:** NDUFAF4 is expressed in cells undergoing rapid proliferation, suggesting its role in regulating cell growth and division. **Clinical Significance:** Dysregulation of NDUFAF4 has been implicated in various diseases, including: 1. **Mitochondrial Diseases:** Mutations in the NDUFAF4 gene have been associated with mitochondrial diseases, such as MERRF syndrome, which is characterized by muscle weakness, epilepsy, and ataxia. 2. **Cancer:** Altered expression of NDUFAF4 has been observed in various types of cancer, including breast, lung, and colon cancer, suggesting its potential role in tumorigenesis. 3. **Neurodegenerative Diseases:** NDUFAF4 has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, where mitochondrial dysfunction plays a critical role. In conclusion, NDUFAF4 is a critical protein involved in the assembly of Complex I of the mitochondrial respiratory chain and plays a pivotal role in regulating various cellular processes, including energy metabolism, cell proliferation, and defense against viral infections. Further research is needed to fully elucidate the functions and clinical significance of NDUFAF4 in human disease.

Genular Protein ID: 42476348

Symbol: NDUF4_HUMAN

Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 14871833

Title: Identification of HRPAP20: a novel phosphoprotein that enhances growth and survival in hormone-responsive tumor cells.

PubMed ID: 14871833

DOI: 10.1158/0008-5472.can-03-0023

PubMed ID: 17001319

Title: HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion.

PubMed ID: 17001319

DOI: 10.1038/sj.onc.1209980

PubMed ID: 18179882

Title: C6ORF66 is an assembly factor of mitochondrial complex I.

PubMed ID: 18179882

DOI: 10.1016/j.ajhg.2007.08.003

PubMed ID: 19463981

Title: Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

PubMed ID: 19463981

DOI: 10.1016/j.ajhg.2009.04.020

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: 25255805

Title: Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.

PubMed ID: 25255805

DOI: 10.1038/ncomms5919

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 33635491

Title: The host cellular protein Ndufaf4 interacts with the vesicular stomatitis virus M protein and affects viral propagation.

PubMed ID: 33635491

DOI: 10.1007/s11262-021-01833-0

PubMed ID: 28853723

Title: NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.

PubMed ID: 28853723

DOI: 10.1038/ejhg.2017.133

Sequence Information:

  • Length: 175
  • Mass: 20266
  • Checksum: B6445B0B4AA905D0
  • Sequence:
  • MGALVIRGIR NFNLENRAER EISKMKPSVA PRHPSTNSLL REQISLYPEV KGEIARKDEK 
    LLSFLKDVYV DSKDPVSSLQ VKAAETCQEP KEFRLPKDHH FDMINIKSIP KGKISIVEAL 
    TLLNNHKLFP ETWTAEKIMQ EYQLEQKDVN SLLKYFVTFE VEIFPPEDKK AIRSK

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.