Gene ND3 - ENSG00000198840 | NCBI Gene ID: 4537

Details for: ND3

Gene ID: 4537

Symbol: ND3

Ensembl ID: ENSG00000198840

Description: NADH dehydrogenase subunit 3

Associated with

Complex i biogenesis
(R-HSA-6799198)
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)
The citric acid (tca) cycle and respiratory electron transport
(R-HSA-1428517)
Aerobic respiration
(GO:0009060)
Cellular response to glucocorticoid stimulus
(GO:0071385)
Mitochondrial electron transport, nadh to ubiquinone
(GO:0006120)
Mitochondrial inner membrane
(GO:0005743)
Mitochondrial respiratory chain complex i
(GO:0005747)
Nadh dehydrogenase (ubiquinone) activity
(GO:0008137)
Protein binding
(GO:0005515)
Proton motive force-driven mitochondrial atp synthesis
(GO:0042776)
Response to light intensity
(GO:0009642)
Response to oxidative stress
(GO:0006979)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: skeletal muscle satellite cell (CL0000594)
Fold Change: 8.3
Marker Score: 5554.5
Cell Name: microglial cell (CL0000129)
Fold Change: 7.54
Marker Score: 13734.5
Cell Name: pulmonary artery endothelial cell (CL1001568)
Fold Change: 7.07
Marker Score: 6081
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 6.46
Marker Score: 6709
Cell Name: myoepithelial cell of mammary gland (CL0002324)
Fold Change: 6.39
Marker Score: 31364
Cell Name: tracheobronchial smooth muscle cell (CL0019019)
Fold Change: 6.11
Marker Score: 1792
Cell Name: Sertoli cell (CL0000216)
Fold Change: 5.93
Marker Score: 35196
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 5.64
Marker Score: 11899
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 5.63
Marker Score: 43991
Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: 5.41
Marker Score: 7052.5
Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 5.21
Marker Score: 69335
Cell Name: IgA plasma cell (CL0000987)
Fold Change: 5.17
Marker Score: 4400
Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
Fold Change: 5.1
Marker Score: 14883
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 5.08
Marker Score: 172818.5
Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
Fold Change: 5.08
Marker Score: 12908.5
Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 5.07
Marker Score: 12451
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 4.98
Marker Score: 17689
Cell Name: mature T cell (CL0002419)
Fold Change: 4.97
Marker Score: 49267
Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
Fold Change: 4.97
Marker Score: 8530
Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
Fold Change: 4.94
Marker Score: 3583
Cell Name: hepatic stellate cell (CL0000632)
Fold Change: 4.75
Marker Score: 1790
Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: 4.72
Marker Score: 7986.5
Cell Name: late pro-B cell (CL0002048)
Fold Change: 4.71
Marker Score: 5559
Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: 4.7
Marker Score: 3319.5
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 4.7
Marker Score: 30009
Cell Name: alpha-beta T cell (CL0000789)
Fold Change: 4.68
Marker Score: 3548
Cell Name: myeloid dendritic cell (CL0000782)
Fold Change: 4.66
Marker Score: 2826
Cell Name: mature gamma-delta T cell (CL0000800)
Fold Change: 4.64
Marker Score: 14655
Cell Name: mature alpha-beta T cell (CL0000791)
Fold Change: 4.63
Marker Score: 244915
Cell Name: natural T-regulatory cell (CL0000903)
Fold Change: 4.54
Marker Score: 2334
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 4.5
Marker Score: 251409.5
Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 4.48
Marker Score: 20731
Cell Name: glycinergic neuron (CL1001509)
Fold Change: 4.46
Marker Score: 5386
Cell Name: hematopoietic cell (CL0000988)
Fold Change: 4.45
Marker Score: 2960
Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 4.42
Marker Score: 3140
Cell Name: small pre-B-II cell (CL0000954)
Fold Change: 4.4
Marker Score: 5281.5
Cell Name: mesodermal cell (CL0000222)
Fold Change: 4.39
Marker Score: 57853
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 4.36
Marker Score: 11675
Cell Name: elicited macrophage (CL0000861)
Fold Change: 4.36
Marker Score: 26468
Cell Name: intraepithelial lymphocyte (CL0002496)
Fold Change: 4.33
Marker Score: 4813
Cell Name: squamous epithelial cell (CL0000076)
Fold Change: 4.3
Marker Score: 2927
Cell Name: ciliated epithelial cell (CL0000067)
Fold Change: 4.3
Marker Score: 1963
Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
Fold Change: 4.27
Marker Score: 11967
Cell Name: memory T cell (CL0000813)
Fold Change: 4.25
Marker Score: 1829
Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
Fold Change: 4.24
Marker Score: 3598.5
Cell Name: blood cell (CL0000081)
Fold Change: 4.23
Marker Score: 49224
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 4.23
Marker Score: 10338
Cell Name: type I NK T cell (CL0000921)
Fold Change: 4.22
Marker Score: 3310
Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
Fold Change: 4.22
Marker Score: 10283
Cell Name: CD8-alpha alpha positive, gamma-delta intraepithelial T cell (CL0000802)
Fold Change: 4.21
Marker Score: 1369
Cell Name: naive B cell (CL0000788)
Fold Change: 4.2
Marker Score: 3746
Cell Name: hepatocyte (CL0000182)
Fold Change: 4.17
Marker Score: 2844
Cell Name: glycinergic amacrine cell (CL4030028)
Fold Change: 4.16
Marker Score: 3927
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 4.16
Marker Score: 9473.5
Cell Name: CD38-negative naive B cell (CL0002102)
Fold Change: 4.15
Marker Score: 8695
Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
Fold Change: 4.11
Marker Score: 3368
Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
Fold Change: 4.11
Marker Score: 5948.5
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 4.05
Marker Score: 3450
Cell Name: supporting cell (CL0000630)
Fold Change: 4.02
Marker Score: 7547
Cell Name: IgG-negative class switched memory B cell (CL0002117)
Fold Change: 3.99
Marker Score: 3929
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 3.97
Marker Score: 29569
Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: 3.97
Marker Score: 21318
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 3.95
Marker Score: 4221
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 3.93
Marker Score: 938.5
Cell Name: promonocyte (CL0000559)
Fold Change: 3.9
Marker Score: 2516
Cell Name: T-helper 22 cell (CL0001042)
Fold Change: 3.87
Marker Score: 16587
Cell Name: myelocyte (CL0002193)
Fold Change: 3.87
Marker Score: 1671
Cell Name: germinal center B cell (CL0000844)
Fold Change: 3.86
Marker Score: 2349
Cell Name: papillary tips cell (CL1000597)
Fold Change: 3.83
Marker Score: 773.5
Cell Name: megakaryocyte (CL0000556)
Fold Change: 3.83
Marker Score: 2176
Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
Fold Change: 3.81
Marker Score: 3355
Cell Name: double negative T regulatory cell (CL0011024)
Fold Change: 3.78
Marker Score: 3658
Cell Name: lung macrophage (CL1001603)
Fold Change: 3.77
Marker Score: 4317.5
Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
Fold Change: 3.77
Marker Score: 2919
Cell Name: stromal cell (CL0000499)
Fold Change: 3.74
Marker Score: 4379
Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
Fold Change: 3.73
Marker Score: 2058
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 3.73
Marker Score: 3781
Cell Name: granulocyte (CL0000094)
Fold Change: 3.72
Marker Score: 1666
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 3.71
Marker Score: 24113
Cell Name: mucosal invariant T cell (CL0000940)
Fold Change: 3.7
Marker Score: 3293
Cell Name: mature astrocyte (CL0002627)
Fold Change: 3.7
Marker Score: 2434
Cell Name: paneth cell (CL0000510)
Fold Change: 3.7
Marker Score: 2574
Cell Name: type G enteroendocrine cell (CL0000508)
Fold Change: 3.7
Marker Score: 1274
Cell Name: intestine goblet cell (CL0019031)
Fold Change: 3.69
Marker Score: 3536
Cell Name: mucous neck cell (CL0000651)
Fold Change: 3.67
Marker Score: 8335
Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
Fold Change: 3.67
Marker Score: 2049
Cell Name: exhausted T cell (CL0011025)
Fold Change: 3.67
Marker Score: 2111
Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 3.67
Marker Score: 2451
Cell Name: mesothelial cell (CL0000077)
Fold Change: 3.65
Marker Score: 1466
Cell Name: enteroendocrine cell (CL0000164)
Fold Change: 3.64
Marker Score: 1886
Cell Name: type L enteroendocrine cell (CL0002279)
Fold Change: 3.64
Marker Score: 994
Cell Name: class switched memory B cell (CL0000972)
Fold Change: 3.64
Marker Score: 3421
Cell Name: radial glial cell (CL0000681)
Fold Change: 3.63
Marker Score: 1337
Cell Name: naive T cell (CL0000898)
Fold Change: 3.62
Marker Score: 2331
Cell Name: cholangiocyte (CL1000488)
Fold Change: 3.61
Marker Score: 1349
Cell Name: glomerular endothelial cell (CL0002188)
Fold Change: 3.6
Marker Score: 914
Cell Name: immature B cell (CL0000816)
Fold Change: 3.6
Marker Score: 2385
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 3.59
Marker Score: 1152.5
Cell Name: ON-bipolar cell (CL0000749)
Fold Change: 3.57
Marker Score: 10423
Cell Name: gamma-delta T cell (CL0000798)
Fold Change: 3.56
Marker Score: 2395

Hover over a box to see details here...

**Key characteristics:** * The ND3 gene is located on chromosome 15q21.1. * It is a large gene with a size of approximately 1.3 million base pairs. * It contains 13 exons and 12 introns. * The protein encoded by ND3 is a transmembrane protein with a molecular weight of approximately 150 kDa. **Pathways and functions:** * The ND3 gene is involved in aerobic respiration and the respiratory electron transport chain. * It is a key enzyme in the TCA cycle, where it catalyzes the transfer of electrons from NADH to coenzyme Q. * It is also involved in the generation of ATP through oxidative phosphorylation. * It is also involved in the regulation of mitochondrial respiration. **Clinical significance:** * Mutations in the ND3 gene have been linked to several human diseases, including mitochondrial disorders and metabolic diseases. * These diseases are characterized by abnormal mitochondrial function and energy production. * Targeting the ND3 gene has been investigated as a therapeutic strategy for these diseases. **Additional information:** * The ND3 gene is also involved in the regulation of inflammation and stress responses. * It is a key regulator of mitochondrial biogenesis. * It is also involved in the regulation of the mitochondrial calcium concentration.

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.

NADH dehydrogenase subunit 3

Genular Protein ID: 4018764030

Symbol: NU3M_HUMAN

Name: NADH dehydrogenase subunit 3

UniProtKB Accession Codes:

P03897

Database IDs:

Citations:

PubMed ID: 7219534

Title: Sequence and organization of the human mitochondrial genome.

PubMed ID: 7219534

DOI: 10.1038/290457a0

PubMed ID: 12949126

Title: Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.

PubMed ID: 12949126

DOI: 10.1093/molbev/msg230

PubMed ID: 11130070

Title: Mitochondrial genome variation and the origin of modern humans.

PubMed ID: 11130070

DOI: 10.1038/35047064

PubMed ID: 12840039

Title: Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.

PubMed ID: 12840039

DOI: 10.1101/gr.686603

PubMed ID: 14760490

Title: Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.

PubMed ID: 14760490

DOI: 10.1007/s00414-004-0427-6

PubMed ID: 3921850

Title: Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.

PubMed ID: 3921850

DOI: 10.1038/314592a0

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: 32320651

Title: Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex I.

PubMed ID: 32320651

DOI: 10.1016/j.celrep.2020.107541

PubMed ID: 33753518

Title: TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I.

PubMed ID: 33753518

DOI: 10.1073/pnas.2100558118

PubMed ID: 6343397

Title: Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy.

PubMed ID: 6343397

DOI: 10.1016/s0021-9258(20)81969-3

PubMed ID: 1757091

Title: Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.

PubMed ID: 1757091

DOI: 10.1007/bf00206061

PubMed ID: 11456298

Title: Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

PubMed ID: 11456298

DOI: 10.1002/ana.1084

PubMed ID: 14705112

Title: De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

PubMed ID: 14705112

DOI: 10.1002/ana.10787

PubMed ID: 17152068

Title: A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.

PubMed ID: 17152068

DOI: 10.1002/ajmg.a.31565

PubMed ID: 20818383

Title: High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PubMed ID: 20818383

DOI: 10.1038/ng.659

PubMed ID: 25118196

Title: Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

PubMed ID: 25118196

DOI: 10.1371/journal.pone.0104879

Sequence Information:

Length: 115
Mass: 13186
Checksum: FA9E0C13B5108EE6
Sequence:

MNFALILMIN TLLALLLMII TFWLPQLNGY MEKSTPYECG FDPMSPARVP FSMKFFLVAI 
TFLLFDLEIA LLLPLPWALQ TTNLPLMVMS SLLLIIILAL SLAYEWLQKG LDWTE

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: ND3

Associated with

Cells (max top 100)

Other Information

Sequence and organization of the human mitochondrial genome. PubMed ID: 7219534

Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. PubMed ID: 12949126

Mitochondrial genome variation and the origin of modern humans. PubMed ID: 11130070

Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. PubMed ID: 12840039

Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. PubMed ID: 14760490

Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. PubMed ID: 3921850

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

Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex I. PubMed ID: 32320651

TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I. PubMed ID: 33753518

Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy. PubMed ID: 6343397

Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. PubMed ID: 1757091

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. PubMed ID: 11456298

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. PubMed ID: 14705112

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. PubMed ID: 17152068

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. PubMed ID: 20818383

Rapid identification of a novel complex I MT-ND3 m.10134C&gt;A mutation in a Leigh syndrome patient. PubMed ID: 25118196