Details for: NDUFS4

Gene ID: 4724

Symbol: NDUFS4

Ensembl ID: ENSG00000164258

Description: NADH:ubiquinone oxidoreductase subunit S4

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: 472.8528
    Cell Significance Index: -73.5500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 245.6993
    Cell Significance Index: -62.3200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 197.2217
    Cell Significance Index: -81.2500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 177.1997
    Cell Significance Index: -83.6600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 166.1263
    Cell Significance Index: -67.4900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 150.5584
    Cell Significance Index: -77.4500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 125.0033
    Cell Significance Index: -83.8800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 70.8254
    Cell Significance Index: -67.6200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 65.3876
    Cell Significance Index: -80.6200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 26.4665
    Cell Significance Index: -70.9000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 21.0160
    Cell Significance Index: -82.9300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 13.3145
    Cell Significance Index: -29.1400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.7662
    Cell Significance Index: 57.9000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.0262
    Cell Significance Index: 53.2800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.8771
    Cell Significance Index: 25.6100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.8430
    Cell Significance Index: 253.1000
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.6885
    Cell Significance Index: 17.9400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.6591
    Cell Significance Index: 45.1600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.6530
    Cell Significance Index: 331.6000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.5933
    Cell Significance Index: 122.2700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.5888
    Cell Significance Index: 40.8400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.5704
    Cell Significance Index: 54.5700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.5555
    Cell Significance Index: 687.7400
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.4172
    Cell Significance Index: 11.3200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.3982
    Cell Significance Index: 98.8900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.3916
    Cell Significance Index: 179.7800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.3774
    Cell Significance Index: 20.9200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.3096
    Cell Significance Index: 236.0800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.2965
    Cell Significance Index: 257.2900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.2923
    Cell Significance Index: 158.9000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.0802
    Cell Significance Index: 589.9200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.0401
    Cell Significance Index: 77.5200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.9916
    Cell Significance Index: 10.7800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.9893
    Cell Significance Index: 51.9400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.9772
    Cell Significance Index: 45.5600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9642
    Cell Significance Index: 54.1100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9297
    Cell Significance Index: 333.4600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9296
    Cell Significance Index: 48.2900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.9043
    Cell Significance Index: 115.9200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.8788
    Cell Significance Index: 41.3100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.8666
    Cell Significance Index: 599.3600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8657
    Cell Significance Index: 39.2400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7604
    Cell Significance Index: 21.9100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.6516
    Cell Significance Index: 18.2100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5773
    Cell Significance Index: 39.9200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.5517
    Cell Significance Index: 35.6000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3930
    Cell Significance Index: 24.7700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3112
    Cell Significance Index: 30.7800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2784
    Cell Significance Index: 17.1100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.2013
    Cell Significance Index: 2.4000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1455
    Cell Significance Index: 24.8500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1201
    Cell Significance Index: 226.0800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1180
    Cell Significance Index: 22.4500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0920
    Cell Significance Index: 67.4400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0614
    Cell Significance Index: 27.8600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0589
    Cell Significance Index: 0.8700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0586
    Cell Significance Index: 6.9100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0506
    Cell Significance Index: 1.1700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0307
    Cell Significance Index: 0.8200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0179
    Cell Significance Index: 11.3800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0174
    Cell Significance Index: 32.1300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0140
    Cell Significance Index: 0.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0096
    Cell Significance Index: 14.7700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0088
    Cell Significance Index: -0.3100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0121
    Cell Significance Index: -16.4500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0123
    Cell Significance Index: -9.0800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0155
    Cell Significance Index: -11.7600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0233
    Cell Significance Index: -0.4000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0386
    Cell Significance Index: -0.3500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0654
    Cell Significance Index: -9.5000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0727
    Cell Significance Index: -7.4300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0883
    Cell Significance Index: -55.1500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1007
    Cell Significance Index: -56.7800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1468
    Cell Significance Index: -2.2000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1804
    Cell Significance Index: -3.5200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2076
    Cell Significance Index: -43.7200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2354
    Cell Significance Index: -67.7200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2491
    Cell Significance Index: -7.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2567
    Cell Significance Index: -29.4100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2585
    Cell Significance Index: -17.3800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3244
    Cell Significance Index: -10.3900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3681
    Cell Significance Index: -29.1500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3712
    Cell Significance Index: -43.2600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5246
    Cell Significance Index: -23.2000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.6795
    Cell Significance Index: -17.3600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.6994
    Cell Significance Index: -72.8200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.7329
    Cell Significance Index: -83.6600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.7458
    Cell Significance Index: -28.2400
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.7889
    Cell Significance Index: -13.9400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.8117
    Cell Significance Index: -17.5900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.8767
    Cell Significance Index: -21.3900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.9513
    Cell Significance Index: -20.3400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.9799
    Cell Significance Index: -51.0400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -1.0242
    Cell Significance Index: -30.0800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.0481
    Cell Significance Index: -30.8700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.1566
    Cell Significance Index: -70.9100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.1620
    Cell Significance Index: -31.1400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.2253
    Cell Significance Index: -32.7800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.3966
    Cell Significance Index: -34.9100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -1.4272
    Cell Significance Index: -9.6700

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:** 1. **Mitochondrial localization**: NDUFS4 is exclusively localized to the mitochondrial inner membrane, where it contributes to the functioning of Complex I. 2. **Aerobic respiration**: As a subunit of Complex I, NDUFS4 is essential for the transfer of electrons from NADH to ubiquinone, driving the production of ATP during aerobic respiration. 3. **Subunit of Complex I**: NDUFS4 is one of the eight subunits that comprise Complex I, which is responsible for the transfer of electrons from NADH to ubiquinone. 4. **Iron-sulfur cluster**: The NDUFS4 subunit contains an iron-sulfur cluster, which is critical for the enzyme's activity. 5. **Expression in various cell types**: NDUFS4 is expressed in multiple cell types, including erythroid progenitor cells, mesenchymal stem cells, and epithelial cells of the nephron and esophagus. **Pathways and Functions:** 1. **Aerobic respiration**: NDUFS4 plays a crucial role in the electron transport chain, facilitating the transfer of electrons from NADH to ubiquinone, which drives ATP production. 2. **Mitochondrial electron transport**: As a subunit of Complex I, NDUFS4 contributes to the functioning of the mitochondrial electron transport chain, which is essential for energy production in cells. 3. **Cellular metabolism**: NDUFS4 is involved in the regulation of cellular metabolism, including the citric acid cycle and respiratory electron transport. 4. **Protein binding**: The NDUFS4 subunit interacts with other proteins, including those involved in the regulation of protein phosphorylation and the response to cyclic AMP (cAMP). 5. **Heat production**: NDUFS4 is also involved in the regulation of heat production by uncoupling proteins, which is essential for maintaining cellular homeostasis. **Clinical Significance:** 1. **Mitochondrial disorders**: Mutations in the NDUFS4 gene have been linked to various mitochondrial disorders, including Leigh syndrome and MERRF syndrome. 2. **Neurodegenerative diseases**: Dysregulation of NDUFS4 has been implicated in neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease. 3. **Cancer**: NDUFS4 expression has been found to be altered in various types of cancer, including breast cancer and lung cancer. 4. **Cardiovascular disease**: NDUFS4 has been implicated in the regulation of cardiac function and has been found to be altered in cardiovascular disease. 5. **Metabolic disorders**: NDUFS4 plays a role in the regulation of glucose and lipid metabolism, and its dysregulation has been linked to metabolic disorders, including diabetes and obesity. In conclusion, NDUFS4 is a critical component of the mitochondrial electron transport chain, and its dysregulation has been implicated in various diseases. Further research into the mechanisms underlying NDUFS4 function is necessary to understand its role in maintaining cellular homeostasis and to develop effective therapeutic strategies for the treatment of mitochondrial disorders and other diseases.

Genular Protein ID: 3406345599

Symbol: NDUS4_HUMAN

Name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial

UniProtKB Accession Codes:

O43181 Q9BS69

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 CarbonylDB 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EMBL 2 Ensembl 1 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 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 4 PDBsum 4 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: 9463323

Title: Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

PubMed ID: 9463323

DOI: 10.1086/301716

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: 11181577

Title: A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.

PubMed ID: 11181577

DOI: 10.1093/hmg/10.5.529

PubMed ID: 12616398

Title: Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.

PubMed ID: 12616398

DOI: 10.1007/s00439-002-0884-2

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: 19107570

Title: A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.

PubMed ID: 19107570

DOI: 10.1007/s10545-008-1049-9

PubMed ID: 20433953

Title: Phosphorylation pattern of the NDUFS4 subunit of complex I of the mammalian respiratory chain.

PubMed ID: 20433953

DOI: 10.1016/j.mito.2010.04.005

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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: 31206022

Title: BAP31 regulates mitochondrial function via interaction with Tom40 within ER-mitochondria contact sites.

PubMed ID: 31206022

DOI: 10.1126/sciadv.aaw1386

PubMed ID: 10944442

Title: Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.

PubMed ID: 10944442

DOI: 10.1006/bbrc.2000.3257

PubMed ID: 15975579

Title: Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants.

PubMed ID: 15975579

DOI: 10.1016/j.febslet.2005.05.035

PubMed ID: 19364667

Title: NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.

PubMed ID: 19364667

DOI: 10.1016/j.ymgme.2009.03.002

Sequence Information:

  • Length: 175
  • Mass: 20108
  • Checksum: DE5B51DBDD76231E
  • Sequence:
    • MAAVSMSVVL RQTLWRRRAV AVAALSVSRV PTRSLRTSTW RLAQDQTQDT QLITVDEKLD 
ITTLTGVPEE HIKTRKVRIF VPARNNMQSG VNNTKKWKME FDTRERWENP LMGWASTADP 
LSNMVLTFST KEDAVSFAEK NGWSYDIEER KVPKPKSKSY GANFSWNKRT RVSTK

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.