Details for: ND4L

Gene ID: 4539

Symbol: ND4L

Ensembl ID: ENSG00000212907

Description: NADH dehydrogenase subunit 4L

Associated with

  • Aerobic respiration
    (GO:0009060)
  • 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)
  • Proton motive force-driven mitochondrial atp synthesis
    (GO:0042776)

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 7.79
    Marker Score: 5,214
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 5.97
    Marker Score: 29,308
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 5.96
    Marker Score: 35,368
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 5.7
    Marker Score: 7,109
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 5.49
    Marker Score: 5,699
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 5.29
    Marker Score: 4,557
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 5.22
    Marker Score: 10,942
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 5.18
    Marker Score: 18,410
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 5.05
    Marker Score: 3,566
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 4.96
    Marker Score: 10,476
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 4.86
    Marker Score: 2,949
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 4.8
    Marker Score: 11,787
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 4.78
    Marker Score: 15,079
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 4.66
    Marker Score: 11,368
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 4.63
    Marker Score: 157,700
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 4.51
    Marker Score: 238,579
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 4.3
    Marker Score: 3,060
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 4.23
    Marker Score: 3,464
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 4.22
    Marker Score: 11,316
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 4.15
    Marker Score: 7,118
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 4.11
    Marker Score: 17,626
  • Cell Name: blood cell (CL0000081)
    Fold Change: 4.09
    Marker Score: 47,564
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 4.06
    Marker Score: 3,927
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 4.02
    Marker Score: 4,298
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 3.99
    Marker Score: 1,169
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 3.98
    Marker Score: 11,165
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 3.94
    Marker Score: 5,800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 3.93
    Marker Score: 219,569
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 3.91
    Marker Score: 29,106
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 3.89
    Marker Score: 7,089
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 3.86
    Marker Score: 3,275
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 3.79
    Marker Score: 3,375
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 3.79
    Marker Score: 2,330
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 3.79
    Marker Score: 3,559
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.74
    Marker Score: 24,332
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 3.7
    Marker Score: 4,371
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 3.7
    Marker Score: 2,902
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 3.67
    Marker Score: 3,459
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 3.66
    Marker Score: 2,431
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 3.59
    Marker Score: 21,835
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 3.54
    Marker Score: 4,256
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 3.53
    Marker Score: 4,864
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 3.51
    Marker Score: 3,083
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 3.48
    Marker Score: 2,004
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 3.48
    Marker Score: 3,532
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 3.47
    Marker Score: 2,363
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 3.41
    Marker Score: 5,647
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 3.41
    Marker Score: 5,585
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 3.39
    Marker Score: 26,492
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 3.37
    Marker Score: 10,592
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 3.34
    Marker Score: 1,524
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.34
    Marker Score: 115,524
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 3.31
    Marker Score: 2,390
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 3.3
    Marker Score: 2,739
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 3.29
    Marker Score: 21,009
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 3.26
    Marker Score: 2,390
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 3.24
    Marker Score: 32,107
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 3.22
    Marker Score: 4,564
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 3.22
    Marker Score: 6,058
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 3.2
    Marker Score: 27,773
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 3.14
    Marker Score: 8,534
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 3.14
    Marker Score: 7,120
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 3.13
    Marker Score: 2,793
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 3.11
    Marker Score: 3,459
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 3.11
    Marker Score: 2,350
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 3.08
    Marker Score: 2,952
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 3.07
    Marker Score: 1,800
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 3.07
    Marker Score: 1,711
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 3.04
    Marker Score: 14,589
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 3.03
    Marker Score: 5,415
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 3.03
    Marker Score: 30,472
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 3.02
    Marker Score: 5,928
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 3.01
    Marker Score: 3,197
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 2.97
    Marker Score: 1,965
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 2.96
    Marker Score: 1,979
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 2.94
    Marker Score: 1,109
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 2.94
    Marker Score: 2,007
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 2.93
    Marker Score: 2,890
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.93
    Marker Score: 18,748
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 2.92
    Marker Score: 2,454
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 2.88
    Marker Score: 38,003
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 2.88
    Marker Score: 3,372
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 2.87
    Marker Score: 4,127
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.86
    Marker Score: 3,459
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.85
    Marker Score: 6,488
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 2.81
    Marker Score: 1,846
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 2.8
    Marker Score: 1,173
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 2.79
    Marker Score: 1,800
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 2.79
    Marker Score: 2,022
  • Cell Name: ILC1, human (CL0001077)
    Fold Change: 2.79
    Marker Score: 707
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 2.78
    Marker Score: 2,106
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 2.78
    Marker Score: 1,869
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 2.78
    Marker Score: 2,366
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.77
    Marker Score: 6,990
  • Cell Name: Unknown (CL0000548)
    Fold Change: 2.77
    Marker Score: 2,019
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 2.76
    Marker Score: 1,360
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 2.75
    Marker Score: 1,188
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.75
    Marker Score: 656
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 2.73
    Marker Score: 1,096
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 2.72
    Marker Score: 4,745

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** The ND4L gene is specifically localized to the mitochondrial inner membrane, where it plays a critical role in the electron transport chain. 2. **Aerobic Respiration:** The ND4L gene is involved in the process of aerobic respiration, which generates energy for cells through the transfer of electrons. 3. **NADH to Ubiquinone:** The ND4L gene is part of the NADH dehydrogenase complex, which converts NADH into ubiquinone, a crucial step in the electron transport chain. 4. **Proton Motive Force-Driven ATP Synthesis:** The ND4L gene contributes to the production of ATP, the primary energy currency of cells, through the proton motive force-driven process. **Pathways and Functions:** 1. **Aerobic Respiration:** The ND4L gene is involved in the aerobic respiration pathway, which is responsible for generating energy for cells. 2. **Mitochondrial Electron Transport:** The ND4L gene is part of the mitochondrial electron transport chain, which is responsible for transferring electrons from NADH to ubiquinone. 3. **NADH to Ubiquinone:** The ND4L gene plays a critical role in the conversion of NADH into ubiquinone, a key step in the electron transport chain. 4. **Proton Motive Force-Driven ATP Synthesis:** The ND4L gene contributes to the production of ATP through the proton motive force-driven process. **Clinical Significance:** 1. **Mitochondrial Diseases:** Abnormalities in the ND4L gene have been implicated in several mitochondrial diseases, including Leber's hereditary optic neuropathy (LHON) and MELAS syndrome. 2. **Neurodegenerative Diseases:** The ND4L gene has been linked to neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, which are characterized by mitochondrial dysfunction. 3. **Cancer:** The ND4L gene has been implicated in cancer development and progression, particularly in cells with high energy demands, such as skeletal muscle and pancreatic cells. 4. **Infectious Diseases:** The ND4L gene has been shown to play a role in the immune system, with abnormalities in the gene contributing to susceptibility to infections. In conclusion, the ND4L gene plays a critical role in maintaining mitochondrial function and overall cellular health. Abnormalities in the gene have been implicated in several diseases, highlighting its importance in understanding the molecular mechanisms underlying human disease. Further research is needed to fully elucidate the functions of the ND4L gene and its role in human disease.

Genular Protein ID: 2837036511

Symbol: NU4LM_HUMAN

Name: NADH-ubiquinone oxidoreductase chain 4L

UniProtKB Accession Codes:

P03901

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 1 DrugCentral 1 EC 1 EMBL 100 Ensembl 1 ExpressionAtlas 1 GO 6 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MIM 3 MalaCards 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 PANTHER 2 PDB 4 PDBsum 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 1 Rhea 4 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UniProtKB 1 VEuPathDB 1 eggNOG 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: 8919866

Title: Comparison between the complete mitochondrial DNA sequences of Homo and the common chimpanzee based on nonchimeric sequences.

PubMed ID: 8919866

DOI: 10.1007/bf02198840

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: 28844695

Title: Architecture of human mitochondrial respiratory megacomplex I2III2IV2.

PubMed ID: 28844695

DOI: 10.1016/j.cell.2017.07.050

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: 8680405

Title: Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations.

PubMed ID: 8680405

DOI: 10.1002/humu.1380060405

PubMed ID: 9806551

Title: Somatic mutations of the mitochondrial genome in human colorectal tumours.

PubMed ID: 9806551

DOI: 10.1038/3108

Sequence Information:

  • Length: 98
  • Mass: 10741
  • Checksum: 24B91F1DCDB0BE22
  • Sequence:
    • MPLIYMNIML AFTISLLGML VYRSHLMSSL LCLEGMMLSL FIMATLMTLN THSLLANIVP 
IAMLVFAACE AAVGLALLVS ISNTYGLDYV HNLNLLQC

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.