Details for: NDUFAF1

Gene ID: 51103

Symbol: NDUFAF1

Ensembl ID: ENSG00000137806

Description: NADH:ubiquinone oxidoreductase complex assembly factor 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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 81.8411
    Cell Significance Index: -12.7300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 54.2198
    Cell Significance Index: -13.7500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 35.2609
    Cell Significance Index: -14.3300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 25.7071
    Cell Significance Index: -17.2500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.2188
    Cell Significance Index: -14.5300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.3257
    Cell Significance Index: -16.4300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.2821
    Cell Significance Index: -14.1500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.3009
    Cell Significance Index: -13.2100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.2701
    Cell Significance Index: -16.8500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.2418
    Cell Significance Index: -7.1000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.2905
    Cell Significance Index: 127.6600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0648
    Cell Significance Index: 961.4300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0471
    Cell Significance Index: 62.8600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.0084
    Cell Significance Index: 27.0200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7120
    Cell Significance Index: 115.8100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.6141
    Cell Significance Index: 71.5700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5280
    Cell Significance Index: 27.4300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4786
    Cell Significance Index: 33.1000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4303
    Cell Significance Index: 27.1200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4053
    Cell Significance Index: 8.7800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3859
    Cell Significance Index: 77.4200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3329
    Cell Significance Index: 60.0100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3225
    Cell Significance Index: 4.4000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3174
    Cell Significance Index: 43.5900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3103
    Cell Significance Index: 8.9400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2289
    Cell Significance Index: 29.3400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2199
    Cell Significance Index: 120.0800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2171
    Cell Significance Index: 41.3200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2164
    Cell Significance Index: 9.8100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2019
    Cell Significance Index: 40.0700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1962
    Cell Significance Index: 5.3400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1939
    Cell Significance Index: 10.1800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1921
    Cell Significance Index: 23.6200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1850
    Cell Significance Index: 6.4300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1847
    Cell Significance Index: 81.6700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1787
    Cell Significance Index: 64.1000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1518
    Cell Significance Index: 11.3100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1472
    Cell Significance Index: 3.8700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1472
    Cell Significance Index: 4.1200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1338
    Cell Significance Index: 15.7800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1338
    Cell Significance Index: 2.8000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1330
    Cell Significance Index: 6.2000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1172
    Cell Significance Index: 2.9300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1104
    Cell Significance Index: 5.1900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1094
    Cell Significance Index: 2.9200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1053
    Cell Significance Index: 0.9700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1045
    Cell Significance Index: 6.7500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0918
    Cell Significance Index: 6.4900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0671
    Cell Significance Index: 1.4300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0600
    Cell Significance Index: 4.6000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.0583
    Cell Significance Index: 0.4900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0528
    Cell Significance Index: 1.5500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0526
    Cell Significance Index: 36.3500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0359
    Cell Significance Index: 1.1500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0340
    Cell Significance Index: 4.3900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0266
    Cell Significance Index: 1.4900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0222
    Cell Significance Index: 0.7800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0105
    Cell Significance Index: 1.8000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0043
    Cell Significance Index: 3.1300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0003
    Cell Significance Index: 0.2300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0014
    Cell Significance Index: -2.6800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0051
    Cell Significance Index: -3.2700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0062
    Cell Significance Index: -11.4400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0083
    Cell Significance Index: -12.7400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0110
    Cell Significance Index: -14.9000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0166
    Cell Significance Index: -12.3300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0205
    Cell Significance Index: -9.2900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0218
    Cell Significance Index: -2.2300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0262
    Cell Significance Index: -14.8000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0305
    Cell Significance Index: -19.0600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0367
    Cell Significance Index: -0.6200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0376
    Cell Significance Index: -0.9600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0437
    Cell Significance Index: -0.4800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0471
    Cell Significance Index: -13.5400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0624
    Cell Significance Index: -1.0700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0688
    Cell Significance Index: -1.8400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0691
    Cell Significance Index: -10.0400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0822
    Cell Significance Index: -0.9800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0850
    Cell Significance Index: -4.4300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0890
    Cell Significance Index: -18.7400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0953
    Cell Significance Index: -10.9200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1033
    Cell Significance Index: -4.5700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1181
    Cell Significance Index: -7.9400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1338
    Cell Significance Index: -2.0100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1398
    Cell Significance Index: -1.4500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1459
    Cell Significance Index: -11.5600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1588
    Cell Significance Index: -16.5400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1620
    Cell Significance Index: -6.1400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1859
    Cell Significance Index: -4.0700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1972
    Cell Significance Index: -5.0700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.2012
    Cell Significance Index: -4.9100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2292
    Cell Significance Index: -14.0500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2359
    Cell Significance Index: -5.4500
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.2487
    Cell Significance Index: -3.4500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2543
    Cell Significance Index: -15.6300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2662
    Cell Significance Index: -3.9300
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.3030
    Cell Significance Index: -3.8900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3309
    Cell Significance Index: -10.5400
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.3332
    Cell Significance Index: -2.6600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3385
    Cell Significance Index: -9.9700

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:** NDUFAF1 is a mitochondrial gene that encodes a protein essential for the biogenesis and function of Complex I. The NDUFAF1 protein is a chaperone-like factor that interacts with the α subunit of Complex I, facilitating its correct assembly and integration into the mitochondrial inner membrane. This protein is highly expressed in various tissues, including hematopoietic cells, epithelial cells, and muscle cells. NDUFAF1 has been shown to be significantly upregulated in response to oxidative stress, suggesting its role in maintaining cellular redox balance. **Pathways and Functions:** NDUFAF1 is involved in several key pathways, including: 1. **Aerobic Respiration and Respiratory Electron Transport:** NDUFAF1 plays a critical role in the assembly and function of Complex I, which is essential for the electron transport chain and energy production in cells. 2. **Chaperone-Mediated Protein Complex Assembly:** NDUFAF1 acts as a chaperone-like factor, facilitating the correct assembly and integration of Complex I into the mitochondrial inner membrane. 3. **Cytosol and Metabolism:** NDUFAF1 is involved in regulating energy metabolism and maintaining cellular homeostasis, particularly in high-energy-demanding tissues. 4. **Mitochondrial Electron Transport:** NDUFAF1 is essential for the transfer of electrons from NADH to ubiquinone, a critical step in the electron transport chain. **Clinical Significance:** Dysregulation of NDUFAF1 has been implicated in various diseases, including: 1. **Mitochondrial Diseases:** Mutations in the NDUFAF1 gene have been associated with mitochondrial diseases, such as mitochondrial myopathies and encephalopathies. 2. **Neurodegenerative Disorders:** NDUFAF1 has been linked to neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease, which are characterized by mitochondrial dysfunction and energy metabolism disturbances. 3. **Cancer:** NDUFAF1 has been shown to be downregulated in various types of cancer, suggesting its potential role in cancer prevention and therapy. 4. **Aging and Senescence:** NDUFAF1 may play a role in regulating cellular aging and senescence, as its expression is often reduced in aged tissues. In conclusion, NDUFAF1 is a critical gene involved in maintaining mitochondrial function, energy metabolism, and cellular homeostasis. Its dysregulation has been implicated in various diseases, highlighting the importance of NDUFAF1 in human health and disease. Further research is needed to fully elucidate the mechanisms by which NDUFAF1 regulates cellular processes and to explore its potential as a therapeutic target for various diseases.

Genular Protein ID: 401252860

Symbol: CIA30_HUMAN

Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1

UniProtKB Accession Codes:

Q9Y375 Q9BVZ5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EMBL 2 Ensembl 2 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 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 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 1 RefSeq 3 SASBDB 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

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: 11935339

Title: CIA30 complex I assembly factor: a candidate for human complex I deficiency?

PubMed ID: 11935339

DOI: 10.1007/s00439-001-0673-3

PubMed ID: 16218961

Title: Human mitochondrial complex I assembly is mediated by NDUFAF1.

PubMed ID: 16218961

DOI: 10.1111/j.1742-4658.2005.04928.x

PubMed ID: 17557076

Title: Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.

PubMed ID: 17557076

DOI: 10.1038/sj.emboj.7601748

PubMed ID: 17344420

Title: Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.

PubMed ID: 17344420

DOI: 10.1101/gad.408407

PubMed ID: 20816094

Title: Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.

PubMed ID: 20816094

DOI: 10.1016/j.cmet.2010.08.002

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21931170

Title: Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.

PubMed ID: 21931170

DOI: 10.1136/jmedgenet-2011-100340

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 32320651

Title: Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex I.

PubMed ID: 32320651

DOI: 10.1016/j.celrep.2020.107541

PubMed ID: 33753518

Title: TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I.

PubMed ID: 33753518

DOI: 10.1073/pnas.2100558118

Sequence Information:

  • Length: 327
  • Mass: 37764
  • Checksum: 13D76605CC50DFF7
  • Sequence:
    • MALVHKLLRG TYFLRKFSKP TSALYPFLGI RFAEYSSSLQ KPVASPGKAS SQRKTEGDLQ 
GDHQKEVALD ITSSEEKPDV SFDKAIRDEA IYHFRLLKDE IVDHWRGPEG HPLHEVLLEQ 
AKVVWQFRGK EDLDKWTVTS DKTIGGRSEV FLKMGKNNQS ALLYGTLSSE APQDGESTRS 
GYCAMISRIP RGAFERKMSY DWSQFNTLYL RVRGDGRPWM VNIKEDTDFF QRTNQMYSYF 
MFTRGGPYWQ EVKIPFSKFF FSNRGRIRDV QHELPLDKIS SIGFTLADKV DGPFFLEIDF 
IGVFTDPAHT EEFAYENSPE LNPRLFK

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.