Details for: NDUFS3

Gene ID: 4722

Symbol: NDUFS3

Ensembl ID: ENSG00000213619

Description: NADH:ubiquinone oxidoreductase core subunit S3

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: 256.0670
    Cell Significance Index: -39.8300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 149.5407
    Cell Significance Index: -37.9300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 123.5837
    Cell Significance Index: -50.9100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 119.0871
    Cell Significance Index: -48.3800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 115.5208
    Cell Significance Index: -54.5400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 101.7914
    Cell Significance Index: -52.3600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 81.4727
    Cell Significance Index: -54.6700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 51.6160
    Cell Significance Index: -49.2800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 41.1085
    Cell Significance Index: -50.6900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 15.5887
    Cell Significance Index: -41.7600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 13.4590
    Cell Significance Index: -53.1100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.9199
    Cell Significance Index: -33.5400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 7.5847
    Cell Significance Index: 189.1400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.0861
    Cell Significance Index: -13.3200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 3.3061
    Cell Significance Index: 198.4800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.8937
    Cell Significance Index: 15.1200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.6762
    Cell Significance Index: 78.1500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.6256
    Cell Significance Index: 56.4900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.4488
    Cell Significance Index: 15.7500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.3759
    Cell Significance Index: 28.8000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.3374
    Cell Significance Index: 86.2900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.1576
    Cell Significance Index: 52.4700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.1318
    Cell Significance Index: 204.0300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.1270
    Cell Significance Index: 498.2600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.1172
    Cell Significance Index: 79.0200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.0939
    Cell Significance Index: 597.3800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.0915
    Cell Significance Index: 28.7000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9906
    Cell Significance Index: 51.4600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.9444
    Cell Significance Index: 20.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9179
    Cell Significance Index: 112.8700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.9142
    Cell Significance Index: 125.5500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.8909
    Cell Significance Index: 26.1700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.8731
    Cell Significance Index: 102.9600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8595
    Cell Significance Index: 776.0300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.8301
    Cell Significance Index: 43.5900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.7077
    Cell Significance Index: 16.3500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.5085
    Cell Significance Index: 23.9000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.5081
    Cell Significance Index: 65.6400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4732
    Cell Significance Index: 60.6600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4726
    Cell Significance Index: 89.9300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3733
    Cell Significance Index: 27.8200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3687
    Cell Significance Index: 73.9600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3518
    Cell Significance Index: 22.1800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3471
    Cell Significance Index: 9.7000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2922
    Cell Significance Index: 49.8900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2785
    Cell Significance Index: 7.5800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2239
    Cell Significance Index: 36.4200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2221
    Cell Significance Index: 44.0800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1730
    Cell Significance Index: 9.0100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.1148
    Cell Significance Index: 84.1800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0997
    Cell Significance Index: 68.9300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0959
    Cell Significance Index: 34.3800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0756
    Cell Significance Index: 7.4800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0269
    Cell Significance Index: 0.4500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0239
    Cell Significance Index: 0.8400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0236
    Cell Significance Index: 0.6300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0140
    Cell Significance Index: 10.5900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0106
    Cell Significance Index: 0.1200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0155
    Cell Significance Index: -29.2000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0171
    Cell Significance Index: -12.6700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0248
    Cell Significance Index: -2.5300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0281
    Cell Significance Index: -0.3400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0292
    Cell Significance Index: -18.2300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0337
    Cell Significance Index: -62.2000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0400
    Cell Significance Index: -61.6500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0464
    Cell Significance Index: -63.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0557
    Cell Significance Index: -35.3600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0644
    Cell Significance Index: -36.3200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0967
    Cell Significance Index: -43.8900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1211
    Cell Significance Index: -25.5100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1548
    Cell Significance Index: -44.5400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1824
    Cell Significance Index: -4.6600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1869
    Cell Significance Index: -14.8000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1889
    Cell Significance Index: -6.0500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2077
    Cell Significance Index: -23.8000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2524
    Cell Significance Index: -29.4200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2899
    Cell Significance Index: -42.1400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3108
    Cell Significance Index: -6.6200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3753
    Cell Significance Index: -28.8000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3947
    Cell Significance Index: -45.0500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.4355
    Cell Significance Index: -4.0100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4663
    Cell Significance Index: -28.6600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5070
    Cell Significance Index: -52.7900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5285
    Cell Significance Index: -7.2100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.5439
    Cell Significance Index: -30.5200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.5657
    Cell Significance Index: -38.0400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.5970
    Cell Significance Index: -8.9500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6293
    Cell Significance Index: -18.5400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.6303
    Cell Significance Index: -11.6500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.6349
    Cell Significance Index: -10.8800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.6602
    Cell Significance Index: -17.6900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6893
    Cell Significance Index: -42.2600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.7603
    Cell Significance Index: -52.5800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8227
    Cell Significance Index: -36.3900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.8782
    Cell Significance Index: -23.4900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.9101
    Cell Significance Index: -26.0900
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.9189
    Cell Significance Index: -12.8800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.9378
    Cell Significance Index: -12.0100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.9661
    Cell Significance Index: -27.8400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.0389
    Cell Significance Index: -39.3400

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. **Subunit composition:** NDUFS3 is a core subunit of the mitochondrial respiratory chain complex I, which consists of five subunits (NDUFS1-NDUFS6). The S3 subunit is a crucial component of the enzyme, responsible for the electron transfer process. 2. **Expression pattern:** NDUFS3 is highly expressed in tissues with high energy demands, such as the brain, kidney, and liver. It is also expressed in various cell types, including erythroid progenitor cells, epithelial cells, and pre-B cells. 3. **Functional significance:** NDUFS3 is essential for the generation of the proton motive force, which is necessary for ATP synthesis. It also plays a role in the regulation of cellular metabolism, including the citric acid cycle and respiratory electron transport. **Pathways and Functions:** 1. **Electron transfer activity:** NDUFS3 is involved in the electron transfer process that generates the proton motive force necessary for ATP synthesis. This process involves the transfer of electrons from NADH to ubiquinone, resulting in the formation of a proton gradient across the mitochondrial inner membrane. 2. **Aerobic respiration:** NDUFS3 is a critical component of the mitochondrial respiratory chain complex I, which is responsible for the generation of ATP during aerobic respiration. 3. **Mitochondrial protein degradation:** NDUFS3 has been implicated in the regulation of mitochondrial protein degradation, which is essential for maintaining cellular energy homeostasis. 4. **Reactive oxygen species (ROS) metabolism:** NDUFS3 plays a role in the regulation of ROS metabolism, which is essential for maintaining cellular homeostasis. **Clinical Significance:** 1. **Neurodegenerative disorders:** Mutations in the NDUFS3 gene have been implicated in neurodegenerative disorders, including Parkinson's disease, Alzheimer's disease, and Huntington's disease. 2. **Metabolic disorders:** NDUFS3 has been linked to metabolic disorders, including diabetes and obesity. 3. **Cancer:** Dysregulation of NDUFS3 has been implicated in cancer, including breast cancer and lung cancer. 4. **Substance abuse:** NDUFS3 has been implicated in the development of substance abuse disorders, including addiction to opioids and cocaine. In conclusion, the NDUFS3 gene plays a critical role in maintaining cellular energy homeostasis and is involved in various cellular processes, including electron transfer activity, aerobic respiration, and ROS metabolism. Dysregulation of NDUFS3 has been implicated in various diseases, including neurodegenerative disorders, metabolic disorders, and cancer. Further research is necessary to fully understand the mechanisms by which NDUFS3 regulates cellular metabolism and to develop effective therapeutic strategies for the treatment of diseases associated with NDUFS3 dysfunction.

Genular Protein ID: 1849229606

Symbol: NDUS3_HUMAN

Name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9647766

Title: cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed.

PubMed ID: 9647766

DOI: 10.1006/bbrc.1998.8882

PubMed ID: 10967146

Title: Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial Complex I: genomic organization and expression.

PubMed ID: 10967146

DOI: 10.1007/s003350010160

PubMed ID: 10931946

Title: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.

PubMed ID: 10931946

DOI: 10.1073/pnas.160270997

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 19892738

Title: Global profiling of protease cleavage sites by chemoselective labeling of protein N-termini.

PubMed ID: 19892738

DOI: 10.1073/pnas.0908958106

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: 17209039

Title: Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.

PubMed ID: 17209039

DOI: 10.1074/jbc.m609410200

PubMed ID: 18826940

Title: Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells.

PubMed ID: 18826940

DOI: 10.1074/jbc.m807323200

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: 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: 14729820

Title: Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.

PubMed ID: 14729820

DOI: 10.1136/jmg.2003.014316

PubMed ID: 22499348

Title: Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

PubMed ID: 22499348

DOI: 10.1136/jmedgenet-2012-100846

PubMed ID: 24028823

Title: Human mitochondrial NDUFS3 protein bearing Leigh syndrome mutation is more prone to aggregation than its wild-type.

PubMed ID: 24028823

DOI: 10.1016/j.biochi.2013.08.032

PubMed ID: 30140060

Title: A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.

PubMed ID: 30140060

DOI: 10.1038/s10038-018-0505-0

Sequence Information:

  • Length: 264
  • Mass: 30242
  • Checksum: C058D62779BEF17B
  • Sequence:
  • MAAAAVARLW WRGILGASAL TRGTGRPSVL LLPVRRESAG ADTRPTVRPR NDVAHKQLSA 
    FGEYVAEILP KYVQQVQVSC FNELEVCIHP DGVIPVLTFL RDHTNAQFKS LVDLTAVDVP 
    TRQNRFEIVY NLLSLRFNSR IRVKTYTDEL TPIESAVSVF KAANWYEREI WDMFGVFFAN 
    HPDLRRILTD YGFEGHPFRK DFPLSGYVEL RYDDEVKRVV AEPVELAQEF RKFDLNSPWE 
    AFPVYRQPPE SLKLEAGDKK PDAK

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.