Details for: ND1

Gene ID: 4535

Symbol: ND1

Ensembl ID: ENSG00000198888

Description: NADH dehydrogenase subunit 1

Associated with

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: 7.89
    Marker Score: 5278.5
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 7
    Marker Score: 6023
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 6.6
    Marker Score: 12020.5
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 6.36
    Marker Score: 6609
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 6.11
    Marker Score: 29997
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 6.1
    Marker Score: 1788
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 5.86
    Marker Score: 34733
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 5.83
    Marker Score: 5496
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 5.8
    Marker Score: 3959
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 5.72
    Marker Score: 44663
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 5.52
    Marker Score: 11649
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 5.17
    Marker Score: 3645
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 5.13
    Marker Score: 13029
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 5.03
    Marker Score: 13179
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 5
    Marker Score: 17746
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 4.98
    Marker Score: 12229
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 4.91
    Marker Score: 10287
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 4.85
    Marker Score: 14161
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: 4.85
    Marker Score: 3519
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 4.81
    Marker Score: 47641
  • Cell Name: naive T cell (CL0000898)
    Fold Change: 4.81
    Marker Score: 3097
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 4.79
    Marker Score: 42053
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 4.77
    Marker Score: 162200
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 4.77
    Marker Score: 8067.5
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 4.73
    Marker Score: 2871
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 4.67
    Marker Score: 14732
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 4.67
    Marker Score: 3535
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 4.63
    Marker Score: 7948
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 4.59
    Marker Score: 3910
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 4.58
    Marker Score: 3119.5
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 4.57
    Marker Score: 255508
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 4.56
    Marker Score: 241073.5
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 4.55
    Marker Score: 5496
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 4.52
    Marker Score: 28837
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: 4.47
    Marker Score: 2297.5
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 4.44
    Marker Score: 1673
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 4.43
    Marker Score: 2948
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 4.43
    Marker Score: 20500.5
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 4.42
    Marker Score: 3144
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 4.42
    Marker Score: 26847
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 4.29
    Marker Score: 11492
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 4.26
    Marker Score: 56241
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 4.26
    Marker Score: 1910
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 4.25
    Marker Score: 4721
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 4.24
    Marker Score: 6141
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 4.24
    Marker Score: 11897
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 4.24
    Marker Score: 3326
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 4.23
    Marker Score: 10327
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 4.23
    Marker Score: 3774
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 4.2
    Marker Score: 4952.5
  • Cell Name: memory T cell (CL0000813)
    Fold Change: 4.2
    Marker Score: 1804
  • Cell Name: blood cell (CL0000081)
    Fold Change: 4.16
    Marker Score: 48408
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 4.16
    Marker Score: 1900.5
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 4.07
    Marker Score: 4349
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 4.06
    Marker Score: 9910.5
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 4.05
    Marker Score: 3454.5
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 4.03
    Marker Score: 3301
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 4
    Marker Score: 3939.5
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 3.99
    Marker Score: 29669
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 3.97
    Marker Score: 9054
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 3.97
    Marker Score: 2557.5
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 3.96
    Marker Score: 3365
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 3.96
    Marker Score: 4754.5
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 3.95
    Marker Score: 2641
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 3.93
    Marker Score: 16850.5
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 3.9
    Marker Score: 5077
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 3.89
    Marker Score: 928.5
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 3.81
    Marker Score: 20490
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 3.81
    Marker Score: 2946
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 3.8
    Marker Score: 3347.5
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 3.79
    Marker Score: 2309
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 3.77
    Marker Score: 760.5
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 3.77
    Marker Score: 3821
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 3.76
    Marker Score: 4304
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 3.75
    Marker Score: 2132
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 3.72
    Marker Score: 2589
  • Cell Name: CD8-alpha alpha positive, gamma-delta intraepithelial T cell (CL0000802)
    Fold Change: 3.72
    Marker Score: 1208
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 3.7
    Marker Score: 2434
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 3.69
    Marker Score: 4327
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 3.67
    Marker Score: 3521
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 3.67
    Marker Score: 2049
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 3.65
    Marker Score: 3256
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.62
    Marker Score: 23568.5
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 3.62
    Marker Score: 1564
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 3.61
    Marker Score: 8199
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 3.61
    Marker Score: 1990
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 3.58
    Marker Score: 6723
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 3.57
    Marker Score: 10411.5
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 3.57
    Marker Score: 1432.5
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 3.57
    Marker Score: 1847
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 3.56
    Marker Score: 1229
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 3.55
    Marker Score: 969
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 3.55
    Marker Score: 3516.5
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 3.54
    Marker Score: 1305
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 3.53
    Marker Score: 2336
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 3.52
    Marker Score: 5602
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 3.51
    Marker Score: 2955
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 3.51
    Marker Score: 3301
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 3.5
    Marker Score: 2356
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 3.49
    Marker Score: 962.5

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Other Information

**Key characteristics:** * The ND1 gene is located on chromosome 15q21.1. * It is a large gene, encoding for a protein of 1,258 amino acids. * The protein is found in the mitochondrial matrix. * It is a heterodimeric protein, with two polypeptide chains that are held together by a disulfide bond. **Pathways and functions:** * The ND1 gene is involved in the citric acid (tca) cycle and the respiratory electron transport chain. * It is responsible for the transfer of electrons from NADH to the electron transport chain, where they participate in the production of ATP. * It is also involved in the regulation of mitochondrial respiration. **Clinical significance:** * Mutations in the ND1 gene have been linked to a number of human diseases, including mitochondrial disorders and cancer. * These diseases are characterized by a decrease in the activity of the ND1 protein, which leads to a decrease in aerobic respiration and energy production. * Targeting the ND1 gene has been explored as a therapeutic strategy for these diseases. **Other relevant information:** * The ND1 gene is also involved in the regulation of apoptosis, or programmed cell death. * It is a highly conserved gene, with a similar gene found in other species. * The ND1 protein is a target for a number of drugs, including metformin, which is used to treat type 2 diabetes.

Genular Protein ID: 1697787257

Symbol: NU1M_HUMAN

Name: NADH-ubiquinone oxidoreductase chain 1

UniProtKB Accession Codes:

P03886 C0JKH6 Q37523

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CORUM 1 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 8 DrugCentral 1 EC 1 EMBL 100 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 14 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NIAGADS 1 OMA 1 OpenTargets 1 Orphanet 4 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 3 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.