Details for: ND1

Gene ID: 4535

Symbol: ND1

Ensembl ID: ENSG00000198888

Description: NADH dehydrogenase subunit 1

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: mucosal type mast cell (CL0000485)
    Fold Change: 837.8930
    Cell Significance Index: -340.4000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 778.3782
    Cell Significance Index: -367.4900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 731.3001
    Cell Significance Index: -376.1700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 549.6540
    Cell Significance Index: -368.8300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 359.3952
    Cell Significance Index: -343.1300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 85.8052
    Cell Significance Index: -229.8600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 51.6123
    Cell Significance Index: 1894.6500
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 48.9386
    Cell Significance Index: 686.4400
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 34.2111
    Cell Significance Index: 272.2000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 33.4270
    Cell Significance Index: 2647.4200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 29.0119
    Cell Significance Index: 21271.4500
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 27.5056
    Cell Significance Index: 405.9800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 24.8828
    Cell Significance Index: 7159.5300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 16.3220
    Cell Significance Index: 1667.2900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 13.2731
    Cell Significance Index: 696.8900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 10.5519
    Cell Significance Index: 287.2200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 10.0394
    Cell Significance Index: 522.9400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 9.6384
    Cell Significance Index: 257.8200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 9.5536
    Cell Significance Index: 176.5800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 8.4913
    Cell Significance Index: 4637.3100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 8.2783
    Cell Significance Index: 900.4200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 8.2428
    Cell Significance Index: 7442.6500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 7.9895
    Cell Significance Index: 1097.1800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 7.7984
    Cell Significance Index: 180.1700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 7.4691
    Cell Significance Index: 215.2000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 7.1738
    Cell Significance Index: 534.6600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 7.0383
    Cell Significance Index: 179.8100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 7.0263
    Cell Significance Index: 900.7300
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: 6.9154
    Cell Significance Index: 144.2300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 6.8305
    Cell Significance Index: 62.9000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 6.3227
    Cell Significance Index: 816.8500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 5.7845
    Cell Significance Index: 373.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 5.4577
    Cell Significance Index: 671.0700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 5.4165
    Cell Significance Index: 41.7500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 5.3736
    Cell Significance Index: 250.5400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 4.4254
    Cell Significance Index: 3349.6900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 4.3267
    Cell Significance Index: 196.1200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 4.3176
    Cell Significance Index: 49.0500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 3.9591
    Cell Significance Index: 643.9100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 3.7977
    Cell Significance Index: 57.2300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 3.7756
    Cell Significance Index: 131.2000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 3.6574
    Cell Significance Index: 96.1700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 3.4252
    Cell Significance Index: 160.9800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 3.3072
    Cell Significance Index: 327.1600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 3.2984
    Cell Significance Index: 594.5900
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 3.2742
    Cell Significance Index: 57.8600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 2.1827
    Cell Significance Index: 42.6000
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.9633
    Cell Significance Index: 12.1800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.9424
    Cell Significance Index: 32.7200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.7410
    Cell Significance Index: 624.4600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.4348
    Cell Significance Index: 284.7400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2352
    Cell Significance Index: 247.7800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.0655
    Cell Significance Index: 55.3500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.0206
    Cell Significance Index: 194.2300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.9927
    Cell Significance Index: 28.4600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.7924
    Cell Significance Index: 27.8500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3371
    Cell Significance Index: 20.2400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2359
    Cell Significance Index: 6.3000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.1765
    Cell Significance Index: -332.2400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1889
    Cell Significance Index: -32.2600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.2357
    Cell Significance Index: -434.7200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.2825
    Cell Significance Index: -434.9400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.3211
    Cell Significance Index: -436.6600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.3971
    Cell Significance Index: -294.1300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.5127
    Cell Significance Index: -325.6200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.5479
    Cell Significance Index: -309.0000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.6518
    Cell Significance Index: -407.0300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.7009
    Cell Significance Index: -318.1300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -1.0239
    Cell Significance Index: -68.8500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -1.1393
    Cell Significance Index: -130.5200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -1.3577
    Cell Significance Index: -39.8800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -1.7504
    Cell Significance Index: -368.6800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -2.0434
    Cell Significance Index: -141.3100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -2.1312
    Cell Significance Index: -53.2800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -2.4388
    Cell Significance Index: -354.5100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -2.4669
    Cell Significance Index: -79.0100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -2.7883
    Cell Significance Index: -46.6700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -3.3850
    Cell Significance Index: -352.4600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -3.3929
    Cell Significance Index: -190.3900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -3.5613
    Cell Significance Index: -224.4600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -3.7434
    Cell Significance Index: -81.1000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -4.0883
    Cell Significance Index: -313.7300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -4.8774
    Cell Significance Index: -299.0300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -5.0082
    Cell Significance Index: -104.8300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -5.1278
    Cell Significance Index: -65.6700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -5.1537
    Cell Significance Index: -147.0700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -5.1976
    Cell Significance Index: -319.4700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -5.2176
    Cell Significance Index: -111.1200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -5.3597
    Cell Significance Index: -80.3100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -6.3831
    Cell Significance Index: -261.5500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -6.9015
    Cell Significance Index: -305.2700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -7.1742
    Cell Significance Index: -211.3100
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -7.3079
    Cell Significance Index: -125.9800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -8.4886
    Cell Significance Index: -321.4400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -8.6718
    Cell Significance Index: -89.7700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -9.0532
    Cell Significance Index: -107.9200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -9.0699
    Cell Significance Index: -458.3700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -9.4996
    Cell Significance Index: -197.0600
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -9.7067
    Cell Significance Index: -83.4100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -9.8500
    Cell Significance Index: -345.0700

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:** ND1 is a mitochondrial protein that belongs to the NADH-ubiquinone oxidoreductase complex, also known as Complex I. It is a subunit of the enzyme that catalyzes the transfer of electrons from NADH to ubiquinone, resulting in the production of NAD+ and ubiquinol. ND1 is characterized by its high expression levels in cells that require high energy production, such as skeletal muscle and pulmonary artery endothelial cells. The gene is also found in various types of cancer cells, suggesting its potential role in tumorigenesis. **Pathways and Functions:** The ND1 gene is involved in several cellular pathways, including: 1. **Aerobic Respiration:** ND1 plays a critical role in the electron transport chain, generating a proton motive force that drives ATP synthesis through oxidative phosphorylation. 2. **Mitochondrial Biogenesis:** ND1 is involved in the regulation of mitochondrial biogenesis and dynamics, ensuring the proper functioning and maintenance of mitochondrial DNA. 3. **Protein Degradation:** ND1 has been implicated in the regulation of protein degradation pathways, including the ubiquitin-proteasome system. 4. **Neurotransmission:** ND1 has been shown to play a role in the regulation of neurotransmitter release and synaptic plasticity in neurons. **Clinical Significance:** Dysregulation of the ND1 gene has been implicated in various diseases, including: 1. **Mitochondrial Myopathies:** Mutations in the ND1 gene have been associated with mitochondrial myopathies, a group of disorders characterized by muscle weakness and fatigue. 2. **Neurodegenerative Diseases:** Alterations in ND1 expression have been linked to neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 3. **Cancer:** Overexpression of ND1 has been observed in various types of cancer, suggesting its potential role in tumorigenesis and cancer progression. 4. **Metabolic Disorders:** ND1 has been implicated in the regulation of metabolic pathways, including glucose and lipid metabolism, highlighting its potential role in the development of metabolic disorders. In conclusion, the NADH dehydrogenase subunit 1 (ND1) gene plays a critical role in maintaining cellular homeostasis and energy production through its involvement in the electron transport chain and mitochondrial biogenesis. Dysregulation of the ND1 gene has been implicated in various diseases, highlighting the need for further research into its role in human health and disease.

Genular Protein ID: 1697787257

Symbol: NU1M_HUMAN

Name: NADH-ubiquinone oxidoreductase chain 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7219534

Title: Sequence and organization of the human mitochondrial genome.

PubMed ID: 7219534

DOI: 10.1038/290457a0

PubMed ID: 7530363

Title: Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.

PubMed ID: 7530363

DOI: 10.1073/pnas.92.2.532

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: 19243582

Title: Mitochondrial DNA haplogroup H structure in North Africa.

PubMed ID: 19243582

DOI: 10.1186/1471-2156-10-8

PubMed ID: 6260957

Title: Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing.

PubMed ID: 6260957

DOI: 10.1016/0022-2836(80)90196-5

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: 15265369

Title: Relationship between mutations of mitochondrial DNA ND1 gene and type 2 diabetes.

PubMed ID: 15265369

PubMed ID: 26929434

Title: Loss of mitochondrial DNA-encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly.

PubMed ID: 26929434

DOI: 10.1096/fj.201500137r

PubMed ID: 24105702

Title: Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.

PubMed ID: 24105702

DOI: 10.1002/humu.22445

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 1928099

Title: Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

PubMed ID: 1928099

PubMed ID: 1674640

Title: A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

PubMed ID: 1674640

PubMed ID: 2018041

Title: Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

PubMed ID: 2018041

PubMed ID: 1900003

Title: Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

PubMed ID: 1900003

DOI: 10.1016/0006-291x(91)91567-v

PubMed ID: 1959619

Title: Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).

PubMed ID: 1959619

DOI: 10.1016/0014-5793(91)80886-8

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: 1417830

Title: An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

PubMed ID: 1417830

DOI: 10.1016/0006-291x(92)90479-5

PubMed ID: 8104867

Title: Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

PubMed ID: 8104867

DOI: 10.1006/geno.1993.1299

PubMed ID: 8723687

Title: A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus.

PubMed ID: 8723687

DOI: 10.1002/(sici)1098-1004(1996)7:4<358::aid-humu11>3.0.co;2-1

PubMed ID: 7733935

Title: A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus.

PubMed ID: 7733935

DOI: 10.1006/bbrc.1995.1550

PubMed ID: 21144833

Title: A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.

PubMed ID: 21144833

DOI: 10.1016/j.bbrc.2010.12.012

Sequence Information:

  • Length: 318
  • Mass: 35661
  • Checksum: 2F771ACB95002591
  • Sequence:
  • MPMANLLLLI VPILIAMAFL MLTERKILGY MQLRKGPNVV GPYGLLQPFA DAMKLFTKEP 
    LKPATSTITL YITAPTLALT IALLLWTPLP MPNPLVNLNL GLLFILATSS LAVYSILWSG 
    WASNSNYALI GALRAVAQTI SYEVTLAIIL LSTLLMSGSF NLSTLITTQE HLWLLLPSWP 
    LAMMWFISTL AETNRTPFDL AEGESELVSG FNIEYAAGPF ALFFMAEYTN IIMMNTLTTT 
    IFLGTTYDAL SPELYTTYFV TKTLLLTSLF LWIRTAYPRF RYDQLMHLLW KNFLPLTLAL 
    LMWYVSMPIT ISSIPPQT

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.