Details for: NDUFA1

Gene ID: 4694

Symbol: NDUFA1

Ensembl ID: ENSG00000125356

Description: NADH:ubiquinone oxidoreductase subunit A1

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 577.3240
    Cell Significance Index: -89.8000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 354.6712
    Cell Significance Index: -89.9600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 280.7639
    Cell Significance Index: -115.6600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 249.5218
    Cell Significance Index: -101.3700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 238.1690
    Cell Significance Index: -112.4500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 219.0187
    Cell Significance Index: -112.6600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 168.0869
    Cell Significance Index: -112.7900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 106.4685
    Cell Significance Index: -101.6500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 84.7719
    Cell Significance Index: -104.5200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 31.5323
    Cell Significance Index: -96.8500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 28.6084
    Cell Significance Index: -112.8900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 27.2168
    Cell Significance Index: -72.9100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 14.4111
    Cell Significance Index: -31.5400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 4.5461
    Cell Significance Index: 105.0300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 4.3493
    Cell Significance Index: 202.7900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 3.5096
    Cell Significance Index: 184.2700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 3.5033
    Cell Significance Index: 64.7500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 3.4796
    Cell Significance Index: 627.2700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 3.3741
    Cell Significance Index: 91.8400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 3.3613
    Cell Significance Index: 3035.0200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 3.3299
    Cell Significance Index: 409.4400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 3.1063
    Cell Significance Index: 28.6100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.9499
    Cell Significance Index: 405.1000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.8732
    Cell Significance Index: 75.5500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.8555
    Cell Significance Index: 129.4300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 2.8124
    Cell Significance Index: 22.4600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 2.8015
    Cell Significance Index: 131.6700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.7380
    Cell Significance Index: 322.8900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.5256
    Cell Significance Index: 188.2300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 2.3226
    Cell Significance Index: 1026.8900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.1527
    Cell Significance Index: 1175.6200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 2.0378
    Cell Significance Index: 144.1200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 2.0096
    Cell Significance Index: 22.8300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.9290
    Cell Significance Index: 247.2900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.9088
    Cell Significance Index: 188.8300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.7897
    Cell Significance Index: 52.5600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.7671
    Cell Significance Index: 228.3000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.7404
    Cell Significance Index: 90.4100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.5874
    Cell Significance Index: 102.4100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.5288
    Cell Significance Index: 32.0000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.5113
    Cell Significance Index: 22.6500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.2709
    Cell Significance Index: 80.1000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.8635
    Cell Significance Index: 147.4500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6119
    Cell Significance Index: 17.6300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5851
    Cell Significance Index: 40.4700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.5158
    Cell Significance Index: 378.1900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5050
    Cell Significance Index: 96.1000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.4255
    Cell Significance Index: 3.2800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.3996
    Cell Significance Index: 10.6700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3306
    Cell Significance Index: 19.8500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.3206
    Cell Significance Index: 242.6500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3029
    Cell Significance Index: 49.2700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2519
    Cell Significance Index: 50.5300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.1393
    Cell Significance Index: 11.0300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1277
    Cell Significance Index: 3.6600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1059
    Cell Significance Index: 21.0100
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.0585
    Cell Significance Index: 0.3600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0165
    Cell Significance Index: 5.9200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0029
    Cell Significance Index: -2.1600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0217
    Cell Significance Index: -40.8200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0366
    Cell Significance Index: -3.7400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0500
    Cell Significance Index: -31.2500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0614
    Cell Significance Index: -113.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0781
    Cell Significance Index: -120.2200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0933
    Cell Significance Index: -126.8400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1274
    Cell Significance Index: -80.9300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1287
    Cell Significance Index: -72.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1619
    Cell Significance Index: -34.1100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1733
    Cell Significance Index: -78.6600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2550
    Cell Significance Index: -73.3800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2612
    Cell Significance Index: -29.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2942
    Cell Significance Index: -34.2800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3928
    Cell Significance Index: -12.5800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5419
    Cell Significance Index: -18.8300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.5424
    Cell Significance Index: -11.7500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.6177
    Cell Significance Index: -89.7900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.6954
    Cell Significance Index: -79.3800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.7049
    Cell Significance Index: -76.6800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.7312
    Cell Significance Index: -44.9500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.7379
    Cell Significance Index: -18.8500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.8613
    Cell Significance Index: -15.2200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.8749
    Cell Significance Index: -24.4500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.8815
    Cell Significance Index: -67.6500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.8867
    Cell Significance Index: -14.8400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.9906
    Cell Significance Index: -13.5200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -1.0576
    Cell Significance Index: -110.1200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -1.1002
    Cell Significance Index: -14.0900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -1.1581
    Cell Significance Index: -13.8100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -1.4350
    Cell Significance Index: -50.4300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.4507
    Cell Significance Index: -42.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.5084
    Cell Significance Index: -84.6500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -1.5191
    Cell Significance Index: -79.1300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -1.5357
    Cell Significance Index: -103.2600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -1.5714
    Cell Significance Index: -26.9300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.5838
    Cell Significance Index: -39.5900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.5991
    Cell Significance Index: -98.0400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -1.8572
    Cell Significance Index: -15.6000
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -1.8873
    Cell Significance Index: -39.3600
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -1.8928
    Cell Significance Index: -32.6300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -2.0061
    Cell Significance Index: -42.7300

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:** 1. **Subunit A1 of Complex I**: NDUFA1 is one of the subunits that make up Complex I, the first step in the electron transport chain. 2. **Mitochondrial localization**: NDUFA1 is specifically localized to the mitochondrial inner membrane, where it participates in the electron transfer process. 3. **Protein structure**: NDUFA1 consists of a single polypeptide chain with a molecular weight of approximately 50 kDa. 4. **Expression patterns**: NDUFA1 is highly expressed in various cell types, including thyroid follicular cells, renal intercalated cells, and hematopoietic stem cells. **Pathways and Functions:** 1. **Aerobic respiration**: NDUFA1 plays a critical role in the electron transport chain, facilitating the transfer of electrons from NADH to ubiquinone. 2. **Mitochondrial electron transport**: NDUFA1 participates in the mitochondrial respiratory chain complex I, generating a proton motive force that drives the synthesis of ATP. 3. **Metabolism**: NDUFA1 is essential for maintaining energy homeostasis in cells, as it contributes to the production of ATP through chemiosmotic coupling. 4. **Heat production by uncoupling proteins**: NDUFA1 has been implicated in the regulation of heat production by uncoupling proteins, which can influence cellular thermogenesis. **Clinical Significance:** 1. **Neurodegenerative disorders**: Mutations in NDUFA1 have been associated with neurodegenerative diseases, such as MERRF (Myoclonic Epilepsy with Ragged Red Fibers) and MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes). 2. **Metabolic disorders**: Abnormalities in NDUFA1 expression have been linked to metabolic disorders, including mitochondrial myopathies and metabolic syndrome. 3. **Immune-related conditions**: NDUFA1 has been implicated in immune-related conditions, such as autoimmune diseases and immunodeficiency disorders. 4. **Therapeutic potential**: Targeting NDUFA1 has been explored as a potential therapeutic strategy for various diseases, including neurodegenerative disorders and metabolic disorders. In conclusion, NDUFA1 is a critical component of the mitochondrial respiratory chain complex I, playing a vital role in maintaining mitochondrial function, energy metabolism, and overall cellular homeostasis. Abnormalities in NDUFA1 expression have been linked to various diseases, highlighting the importance of this gene in human health and disease. Further research is necessary to fully elucidate the functions and clinical significance of NDUFA1.

Genular Protein ID: 707183954

Symbol: NDUA1_HUMAN

Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1

UniProtKB Accession Codes:

O15239

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EMBL 3 Ensembl 1 ExpressionAtlas 1 GO 10 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8938439

Title: Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.

PubMed ID: 8938439

DOI: 10.1006/geno.1996.0561

PubMed ID: 9224902

Title: Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25.

PubMed ID: 9224902

DOI: 10.1016/s0378-1119(97)00108-x

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

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: 27626371

Title: Accessory subunits are integral for assembly and function of human mitochondrial complex I.

PubMed ID: 27626371

DOI: 10.1038/nature19754

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17262856

Title: X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

PubMed ID: 17262856

DOI: 10.1002/ana.21036

Sequence Information:

  • Length: 70
  • Mass: 8072
  • Checksum: E4004A62117BF253
  • Sequence:
    • MWFEILPGLS VMGVCLLIPG LATAYIHRFT NGGKEKRVAH FGYHWSLMER DRRISGVDRY 
YVSKGLENID

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.