UQCRFS1

UQCRFS1
Identifiers
Aliases	UQCRFS1, RIP1, RIS1, RISP, UQCR5, ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1, MC3DN10
External IDs	OMIM: 191327; MGI: 1913944; HomoloGene: 4378; GeneCards: UQCRFS1; OMA:UQCRFS1 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q12 Start 29,205,320 bp[1] End 29,213,151 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 A3.2 Start 30,724,291 bp[2] End 30,729,345 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle left ventricle mucosa of transverse colon muscle of thigh apex of heart right auricle skeletal muscle tissue right adrenal gland right adrenal cortex rectum Top expressed in myocardium of ventricle right ventricle soleus muscle extraocular muscle digastric muscle vastus lateralis muscle thoracic diaphragm temporal muscle right kidney triceps brachii muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ubiquinol-cytochrome-c reductase activity protein-containing complex binding iron-sulfur cluster binding metal ion binding oxidoreductase activity 2 iron, 2 sulfur cluster binding oxidoreductase activity, acting on diphenols and related substances as donors protein binding Cellular component integral component of membrane membrane mitochondrial membranes myelin sheath mitochondrion mitochondrial inner membrane respirasome mitochondrial respiratory chain complex III mitochondrial respiratory chain complex IV Biological process proton transmembrane transport response to antibiotic response to hormone mitochondrial electron transport, ubiquinol to cytochrome c Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7386 66694 Ensembl ENSG00000169021 ENSMUSG00000038462 UniProt P47985 Q9CR68 RefSeq (mRNA) NM_006003 NM_025710 RefSeq (protein) NP_005994 NP_079986 Location (UCSC) Chr 19: 29.21 – 29.21 Mb Chr 13: 30.72 – 30.73 Mb PubMed search [3] [4]
Wikidata
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Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1, also known as UQCRFS1, Rieske iron-sulfur (Fe-S) protein, Cytochrome b-c1 complex subunit 5, or Complex III subunit 5 is a protein which in humans is encoded by the UQCRFS1 gene.^[5] UQCRFS1 is a subunit of the respiratory chain protein Ubiquinol Cytochrome c Reductase (UQCR, Complex III or Cytochrome bc1 complex), which consists of the products of one mitochondrially encoded gene, MTCYTB (mitochondrial cytochrome b) and ten nuclear genes UQCRC1, UQCRC2, Cytochrome C1, UQCRFS1 (this protein, a type of Rieske protein), UQCRB,UQCRQ ("11kDa protein"), UQCRH (cyt c1 Hinge protein), UCRC ("cyt. c1 associated protein"), and UQCR ("Rieske-associated protein").^[6]

Structure

UQCRFS1 is located on the q arm of chromosome 19 in position 12, has 2 exons, and spans 5,969 base pairs.^[5] The UQCRFS1 gene produces a 29.7 kDa protein composed of 274 amino acids.^[7][8] UQCRFS1 is a subunit of the respiratory chain protein Ubiquinol Cytochrome c Reductase (UQCR, Complex III or Cytochrome bc1 complex). The structure of the complex is a symmetric homodimer composed of one mitochondrial genome encoded cytochrome b subunit and ten other nucleus encoded subunits.^[9] The primary structure of UQCRFS1 from cDNA analysis is composed of a 78 amino acid long N-terminal extension sequence.^[10]

Function

The UQCRFS1 gene encodes for an iron-sulfur protein, which is an essential subunit of the Ubiquinol Cytochrome c Reductase or Complex III in the mitochondrial respiratory chain.^[11] Complex III is responsible for electron transfer from coenzyme Q to cytochrome c as well as the proton transfer from the extracellular matrix to the intermembrane space which leads to ATP-coupled electrochemical potential generation. Incorporation of the subunit UQCRFS1 is the second to last step in complex III assembly.^[12] Once it is incorporated, UQCRFS1 undergoes proteolytic processing, which is essential for the correct insertion into Complex III. Preventions of the insertion may occur due to UQCRFS1-derived fragments, leading to a loss of Complex III structure and function.^[6][12]

Clinical significance

The UQCRFS1 gene has been shown to be involved in carcinogenesis of some cancers. It is mainly associated with more aggressive tumors, and results in the development of more aggressive phenotypes of breast cancers. The association was found with a grade 3 amplification of the UQCRFS1 gene.^[13] In addition, Acute myeloid leukemia (AML) has been found to be associated with the amplification of UQCRFS1 gene.^[14] In contrast, UQCRFS1 and complex III has been absent in renal cell carcinoma, though the mechanism is unknown.^[15]

Interactions

In addition to co-complexes, UQCRFS1 has protein-protein interactions with UQCRB, BCS1L, COX6B1, UQCRQ, NDUFA9, and other proteins.^[16]

References

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.