Details for: UQCRFS1

Gene ID: 7386

Symbol: UQCRFS1

Ensembl ID: ENSG00000169021

Description: ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 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: 332.7007
    Cell Significance Index: -51.7500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 199.1773
    Cell Significance Index: -50.5200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 157.7326
    Cell Significance Index: -64.0800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 149.7492
    Cell Significance Index: -70.7000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 137.0762
    Cell Significance Index: -70.5100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 105.3467
    Cell Significance Index: -70.6900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 53.4529
    Cell Significance Index: -65.9100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 17.9737
    Cell Significance Index: -70.9300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 17.2163
    Cell Significance Index: -46.1200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 12.9678
    Cell Significance Index: -39.8300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.1233
    Cell Significance Index: -15.5900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 3.6263
    Cell Significance Index: 97.0000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 3.5056
    Cell Significance Index: 27.9900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 2.6227
    Cell Significance Index: 22.0300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 2.6023
    Cell Significance Index: 28.2900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.3556
    Cell Significance Index: 69.1800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.2514
    Cell Significance Index: 59.2000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 2.2456
    Cell Significance Index: 158.8200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.2002
    Cell Significance Index: 163.9800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.1885
    Cell Significance Index: 59.5700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.1349
    Cell Significance Index: 99.5400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.0671
    Cell Significance Index: 108.5300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.9733
    Cell Significance Index: 355.7300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.9640
    Cell Significance Index: 41.1100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.8308
    Cell Significance Index: 63.6200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.8200
    Cell Significance Index: 223.7900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.8174
    Cell Significance Index: 234.8000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.7491
    Cell Significance Index: 206.2700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.6855
    Cell Significance Index: 745.2200
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.6526
    Cell Significance Index: 38.1800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.5824
    Cell Significance Index: 82.2000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.5651
    Cell Significance Index: 854.7500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.4661
    Cell Significance Index: 101.3900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.4611
    Cell Significance Index: 68.6700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.4600
    Cell Significance Index: 13.4500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.4580
    Cell Significance Index: 94.0600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.1915
    Cell Significance Index: 163.6200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1036
    Cell Significance Index: 996.4600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.9264
    Cell Significance Index: 20.0700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.9154
    Cell Significance Index: 57.7000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8572
    Cell Significance Index: 139.4200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.8032
    Cell Significance Index: 14.8500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5272
    Cell Significance Index: 52.1500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.4879
    Cell Significance Index: 83.3100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4595
    Cell Significance Index: 12.2700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.4584
    Cell Significance Index: 13.1400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4493
    Cell Significance Index: 90.1200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4488
    Cell Significance Index: 89.0600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.4234
    Cell Significance Index: 4.8100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3950
    Cell Significance Index: 50.6400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.3652
    Cell Significance Index: 105.0700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.3129
    Cell Significance Index: 4.6200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3109
    Cell Significance Index: 59.1600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.3028
    Cell Significance Index: 222.0500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2663
    Cell Significance Index: 7.1300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.1452
    Cell Significance Index: 11.5000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0851
    Cell Significance Index: 30.5200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0553
    Cell Significance Index: 0.9300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0540
    Cell Significance Index: 40.9100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0193
    Cell Significance Index: 0.2300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0058
    Cell Significance Index: 10.9800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0168
    Cell Significance Index: -12.4600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0243
    Cell Significance Index: -44.8500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0250
    Cell Significance Index: -1.9200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0316
    Cell Significance Index: -48.5900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0335
    Cell Significance Index: -1.5200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0344
    Cell Significance Index: -0.4400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0361
    Cell Significance Index: -3.6900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0367
    Cell Significance Index: -22.9100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0408
    Cell Significance Index: -1.4400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0431
    Cell Significance Index: -58.5900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0732
    Cell Significance Index: -46.4700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0743
    Cell Significance Index: -41.9000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0997
    Cell Significance Index: -45.2500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1112
    Cell Significance Index: -3.5600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1187
    Cell Significance Index: -25.0100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1303
    Cell Significance Index: -14.9300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1639
    Cell Significance Index: -2.4900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1889
    Cell Significance Index: -5.2800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2439
    Cell Significance Index: -6.2300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3144
    Cell Significance Index: -35.8900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3212
    Cell Significance Index: -37.4300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3792
    Cell Significance Index: -55.1200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3913
    Cell Significance Index: -9.5500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4116
    Cell Significance Index: -23.1000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5871
    Cell Significance Index: -8.0100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.6173
    Cell Significance Index: -9.2500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.6243
    Cell Significance Index: -38.3700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.6496
    Cell Significance Index: -67.6400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.7606
    Cell Significance Index: -51.1400
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.7628
    Cell Significance Index: -10.7000
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.7988
    Cell Significance Index: -14.1200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.8448
    Cell Significance Index: -50.7200
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.9997
    Cell Significance Index: -6.0400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -1.0130
    Cell Significance Index: -17.3600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.0212
    Cell Significance Index: -62.6100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.1153
    Cell Significance Index: -27.8800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.1368
    Cell Significance Index: -24.2100
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -1.1451
    Cell Significance Index: -16.0500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.1543
    Cell Significance Index: -29.6700

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:** UQCRFS1 is a mitochondrial gene, specifically located on the mitochondrial DNA (mtDNA), which is distinct from the nuclear DNA (nDNA). This gene encodes a polypeptide that belongs to the cytochrome b-c1 complex, a crucial component of the electron transport chain. The Rieske iron-sulfur polypeptide, as designated by UQCRFS1, is characterized by its unique iron-sulfur cluster, which is essential for the transfer of electrons from ubiquinol to cytochrome c. This protein is highly conserved across various species, suggesting its fundamental importance in the electron transport chain. **Pathways and Functions:** UQCRFS1 plays a pivotal role in the electron transport chain, specifically in the ubiquinol-cytochrome c reductase complex. This complex is responsible for the transfer of electrons from ubiquinol to cytochrome c, generating the proton gradient essential for ATP synthesis. The proton gradient, in turn, drives the production of ATP through chemiosmosis, a process that is critical for cellular energy production. UQCRFS1 also participates in the regulation of the electron transport chain, modulating the activity of the complex in response to changes in cellular energy demands. Furthermore, UQCRFS1 is involved in various other cellular processes, including: 1. **Metal ion binding**: UQCRFS1 binds to essential metal ions, such as iron and copper, which are crucial for the functioning of the electron transport chain. 2. **Oxidoreductase activity**: UQCRFS1 exhibits oxidoreductase activity, facilitating the transfer of electrons between ubiquinol and cytochrome c. 3. **Proton transmembrane transport**: UQCRFS1 participates in the transmembrane transport of protons, contributing to the generation of the proton gradient essential for ATP synthesis. **Clinical Significance:** Dysregulation or mutations in UQCRFS1 have been implicated in various diseases, including: 1. **Mitochondrial disorders**: Mutations in UQCRFS1 have been linked to mitochondrial disorders, such as mitochondrial myopathies, which are characterized by muscle weakness, fatigue, and other systemic symptoms. 2. **Neurodegenerative diseases**: UQCRFS1 mutations have also been associated with neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, and Huntington's disease. 3. **Cancer**: Dysregulation of UQCRFS1 has been observed in various types of cancer, including breast, lung, and colon cancer. In conclusion, UQCRFS1 is a vital gene that plays a crucial role in the electron transport chain, facilitating the conversion of ubiquinol to cytochrome c and generating the proton gradient essential for ATP synthesis. Its dysregulation or mutations have been implicated in various diseases, highlighting the importance of this gene in maintaining mitochondrial homeostasis and overall cellular function. Further research is necessary to fully elucidate the mechanisms by which UQCRFS1 contributes to disease pathology and to develop targeted therapeutic strategies for the treatment of these disorders.

Genular Protein ID: 790462512

Symbol: UCRI_HUMAN

Name: Cytochrome b-c1 complex subunit Rieske, mitochondrial

UniProtKB Accession Codes:

P47985 A8K519 Q6NVX5 Q9UPH2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 11 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 9 EC 2 EMBL 7 Ensembl 1 GO 11 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 10 RefSeq 1 Rhea 3 SIGNOR 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2158323

Title: The primary structure of human Rieske iron-sulfur protein of mitochondrial cytochrome bc1 complex deduced from cDNA analysis.

PubMed ID: 2158323

PubMed ID: 7721092

Title: Structure, sequence and location of the UQCRFS1 gene for the human Rieske Fe-S protein.

PubMed ID: 7721092

DOI: 10.1016/0378-1119(94)00683-j

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 9150947

Title: Renal cell carcinoma and normal kidney protein expression.

PubMed ID: 9150947

DOI: 10.1002/elps.1150180343

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 28673544

Title: TTC19 plays a husbandry role on UQCRFS1 turnover in the biogenesis of mitochondrial respiratory complex III.

PubMed ID: 28673544

DOI: 10.1016/j.molcel.2017.06.001

PubMed ID: 28380382

Title: A single adaptable cochaperone-scaffold complex delivers nascent iron-sulfur clusters to mammalian respiratory chain complexes I-III.

PubMed ID: 28380382

DOI: 10.1016/j.cmet.2017.03.010

PubMed ID: 31883641

Title: Bi-allelic UQCRFS1 variants are associated with mitochondrial complex III deficiency, cardiomyopathy, and alopecia totalis.

PubMed ID: 31883641

DOI: 10.1016/j.ajhg.2019.12.005

PubMed ID: 28844695

Title: Architecture of human mitochondrial respiratory megacomplex I2III2IV2.

PubMed ID: 28844695

DOI: 10.1016/j.cell.2017.07.050

Sequence Information:

  • Length: 274
  • Mass: 29668
  • Checksum: 8DB51634DEB039B0
  • Sequence:
    • MLSVASRSGP FAPVLSATSR GVAGALRPLV QATVPATPEQ PVLDLKRPFL SRESLSGQAV 
RRPLVASVGL NVPASVCYSH TDIKVPDFSE YRRLEVLDST KSSRESSEAR KGFSYLVTGV 
TTVGVAYAAK NAVTQFVSSM SASADVLALA KIEIKLSDIP EGKNMAFKWR GKPLFVRHRT 
QKEIEQEAAV ELSQLRDPQH DLDRVKKPEW VILIGVCTHL GCVPIANAGD FGGYYCPCHG 
SHYDASGRIR LGPAPLNLEV PTYEFTSDDM VIVG

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.