Details for: ND5

Gene ID: 4540

Symbol: ND5

Ensembl ID: ENSG00000198786

Description: NADH dehydrogenase subunit 5

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: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 478.3574
    Cell Significance Index: -246.0600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 478.3079
    Cell Significance Index: -225.8200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 337.9769
    Cell Significance Index: -226.7900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 65.3263
    Cell Significance Index: -175.0000
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 52.5313
    Cell Significance Index: 417.9700
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 38.1037
    Cell Significance Index: 534.4600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 35.0961
    Cell Significance Index: 1288.3500
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 15.8312
    Cell Significance Index: 42.4100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 13.9066
    Cell Significance Index: 205.2600
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 12.9244
    Cell Significance Index: 99.6200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 10.3239
    Cell Significance Index: 467.9500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 8.5842
    Cell Significance Index: 876.8800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 8.3003
    Cell Significance Index: 212.0500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 7.8232
    Cell Significance Index: 4272.4500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 7.5855
    Cell Significance Index: 206.4700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 7.3378
    Cell Significance Index: 1007.6900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 7.2331
    Cell Significance Index: 167.1100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 6.9220
    Cell Significance Index: 199.4400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 6.8516
    Cell Significance Index: 5023.6000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 6.6114
    Cell Significance Index: 523.6200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 6.3554
    Cell Significance Index: 58.5300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 6.1109
    Cell Significance Index: 664.6900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 5.7024
    Cell Significance Index: 299.4000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 5.6696
    Cell Significance Index: 726.8100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 5.6155
    Cell Significance Index: 103.7900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 5.3571
    Cell Significance Index: 249.7800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 5.2595
    Cell Significance Index: 59.7500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 4.5298
    Cell Significance Index: 119.1100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 4.3087
    Cell Significance Index: 277.9800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 3.8755
    Cell Significance Index: 201.3200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.7996
    Cell Significance Index: 48.6600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 3.6462
    Cell Significance Index: 448.3300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 3.5500
    Cell Significance Index: 264.5800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 3.3204
    Cell Significance Index: 428.9700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.5738
    Cell Significance Index: 254.6100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.4244
    Cell Significance Index: 437.0500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 2.2193
    Cell Significance Index: 2003.8600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 2.1667
    Cell Significance Index: 101.8400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.9515
    Cell Significance Index: 55.9400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.9333
    Cell Significance Index: 56.7800
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.7054
    Cell Significance Index: 10.5800
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 1.6974
    Cell Significance Index: 30.0000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.0494
    Cell Significance Index: 208.2600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 1.0183
    Cell Significance Index: 35.7800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9691
    Cell Significance Index: 347.6100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.9180
    Cell Significance Index: 31.9000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.8504
    Cell Significance Index: 643.7000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3526
    Cell Significance Index: 70.7300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2845
    Cell Significance Index: 54.1500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1423
    Cell Significance Index: 3.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0468
    Cell Significance Index: 7.6100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.1099
    Cell Significance Index: -206.9400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.1586
    Cell Significance Index: -292.5600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.1901
    Cell Significance Index: -292.7000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.2162
    Cell Significance Index: -294.0000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.2812
    Cell Significance Index: -208.3000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.2899
    Cell Significance Index: -49.5000
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.2978
    Cell Significance Index: -6.2100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.3738
    Cell Significance Index: -237.4100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.3825
    Cell Significance Index: -215.6900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3945
    Cell Significance Index: -7.7000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.4338
    Cell Significance Index: -270.8800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.5043
    Cell Significance Index: -228.9000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.6390
    Cell Significance Index: -183.8500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.8023
    Cell Significance Index: -12.0900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.8199
    Cell Significance Index: -93.9300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -1.2014
    Cell Significance Index: -253.0400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -1.2181
    Cell Significance Index: -81.9100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -1.3430
    Cell Significance Index: -67.8700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.4136
    Cell Significance Index: -35.3400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -1.4259
    Cell Significance Index: -24.0200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.5387
    Cell Significance Index: -33.3400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -1.5754
    Cell Significance Index: -64.5500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -1.7536
    Cell Significance Index: -254.9000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -1.8075
    Cell Significance Index: -30.2500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -1.8521
    Cell Significance Index: -128.0900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -1.9002
    Cell Significance Index: -114.0800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -2.0546
    Cell Significance Index: -213.9300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -2.0602
    Cell Significance Index: -65.9900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -2.3863
    Cell Significance Index: -150.4000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -2.8161
    Cell Significance Index: -216.1100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -2.8783
    Cell Significance Index: -161.5200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -2.9020
    Cell Significance Index: -178.3700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -2.9158
    Cell Significance Index: -43.6900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -3.1173
    Cell Significance Index: -191.1200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -3.5445
    Cell Significance Index: -101.1500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -3.6289
    Cell Significance Index: -97.0700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -3.7728
    Cell Significance Index: -78.9700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -3.8949
    Cell Significance Index: -40.3200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -4.0942
    Cell Significance Index: -87.2000
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: -4.1543
    Cell Significance Index: -27.5600
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -4.4238
    Cell Significance Index: -28.2400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -4.7770
    Cell Significance Index: -211.3000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -5.6796
    Cell Significance Index: -167.2900
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -5.7153
    Cell Significance Index: -98.5300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -5.9022
    Cell Significance Index: -223.5000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -5.9352
    Cell Significance Index: -123.1200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -6.1076
    Cell Significance Index: -213.9600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -6.4407
    Cell Significance Index: -210.8700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -6.5728
    Cell Significance Index: -209.3400

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:** ND5 is a subunit of the mitochondrial respiratory chain complex I, comprising 32 kDa protein. It is encoded by the NDUFA5 gene and is predominantly expressed in tissues with high energy demands, such as skeletal muscle, brain, and heart. ND5 is a crucial component of the electron transport chain, facilitating the transfer of electrons from NADH to ubiquinone. The protein is highly conserved across species, suggesting its essential role in mitochondrial function. **Pathways and Functions:** ND5 is involved in several critical pathways, including: 1. **Aerobic Respiration:** ND5 plays a central role in the electron transport chain, generating a proton motive force that drives ATP synthesis. 2. **Mitochondrial Electron Transport:** ND5 facilitates the transfer of electrons from NADH to ubiquinone, contributing to the production of ATP. 3. **Proton Motive Force-Driven ATP Synthesis:** ND5 is essential for the generation of ATP through chemiosmotic coupling. 4. **Metabolism of Proteins:** ND5 is involved in the regulation of protein degradation and synthesis in mitochondria. 5. **Response to Hypoxia and Hydrogen Peroxide:** ND5 has been shown to be sensitive to changes in oxygen levels and oxidative stress, highlighting its role in maintaining mitochondrial homeostasis. **Clinical Significance:** Alterations in ND5 expression or function have been implicated in various diseases, including: 1. **Neurodegenerative Disorders:** Mutations in the NDUFA5 gene have been associated with neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease. 2. **Cardiovascular Diseases:** ND5 dysfunction has been linked to cardiovascular diseases, including heart failure and arrhythmias. 3. **Metabolic Disorders:** ND5 alterations have been implicated in metabolic disorders, such as diabetes and obesity. 4. **Cancer:** ND5 has been shown to be overexpressed in certain types of cancer, suggesting its potential as a therapeutic target. In conclusion, ND5 is a crucial component of the mitochondrial respiratory chain complex I, playing a vital role in energy production and mitochondrial function. Alterations in ND5 expression or function have significant implications for various diseases, highlighting the need for further research into the molecular mechanisms underlying ND5-related disorders.

Genular Protein ID: 757629391

Symbol: NU5M_HUMAN

Name: NADH-ubiquinone oxidoreductase chain 5

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: 11553319

Title: Major genomic mitochondrial lineages delineate early human expansions.

PubMed ID: 11553319

DOI: 10.1186/1471-2156-2-13

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: 6284948

Title: Mitochondrial DNA sequences of primates: tempo and mode of evolution.

PubMed ID: 6284948

DOI: 10.1007/bf01734101

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: 15250827

Title: Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin.

PubMed ID: 15250827

DOI: 10.1042/bj20040256

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

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: 1732158

Title: Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

PubMed ID: 1732158

DOI: 10.1093/genetics/130.1.163

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: 8213825

Title: When does bilateral optic atrophy become Leber hereditary optic neuropathy?

PubMed ID: 8213825

PubMed ID: 9299505

Title: Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

PubMed ID: 9299505

DOI: 10.1006/bbrc.1997.7167

PubMed ID: 9461455

Title: Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.

PubMed ID: 9461455

DOI: 10.1093/nar/26.4.967

PubMed ID: 11938446

Title: Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

PubMed ID: 11938446

DOI: 10.1038/sj.ejhg.5200773

PubMed ID: 12509858

Title: Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

PubMed ID: 12509858

DOI: 10.1002/ana.10435

PubMed ID: 12796552

Title: A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

PubMed ID: 12796552

DOI: 10.1212/01.wnl.0000066048.72780.69

PubMed ID: 16240359

Title: The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

PubMed ID: 16240359

DOI: 10.1002/ana.20669

PubMed ID: 15767514

Title: Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

PubMed ID: 15767514

DOI: 10.1001/archneur.62.3.473

PubMed ID: 17400793

Title: Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

PubMed ID: 17400793

DOI: 10.1136/jmg.2006.045716

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

Sequence Information:

  • Length: 603
  • Mass: 67027
  • Checksum: 18A06227ABC9162A
  • Sequence:
  • MTMHTTMTTL TLTSLIPPIL TTLVNPNKKN SYPHYVKSIV ASTFIISLFP TTMFMCLDQE 
    VIISNWHWAT TQTTQLSLSF KLDYFSMMFI PVALFVTWSI MEFSLWYMNS DPNINQFFKY 
    LLIFLITMLI LVTANNLFQL FIGWEGVGIM SFLLISWWYA RADANTAAIQ AILYNRIGDI 
    GFILALAWFI LHSNSWDPQQ MALLNANPSL TPLLGLLLAA AGKSAQLGLH PWLPSAMEGP 
    TPVSALLHSS TMVVAGIFLL IRFHPLAENS PLIQTLTLCL GAITTLFAAV CALTQNDIKK 
    IVAFSTSSQL GLMMVTIGIN QPHLAFLHIC THAFFKAMLF MCSGSIIHNL NNEQDIRKMG 
    GLLKTMPLTS TSLTIGSLAL AGMPFLTGFY SKDHIIETAN MSYTNAWALS ITLIATSLTS 
    AYSTRMILLT LTGQPRFPTL TNINENNPTL LNPIKRLAAG SLFAGFLITN NISPASPFQT 
    TIPLYLKLTA LAVTFLGLLT ALDLNYLTNK LKMKSPLCTF YFSNMLGFYP SITHRTIPYL 
    GLLTSQNLPL LLLDLTWLEK LLPKTISQHQ ISTSIITSTQ KGMIKLYFLS FFFPLILTLL 
    LIT

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.