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UQCRFS1 (Ubiquinol-Cytochrome C Reductase, Rieske Iron-Sulfur Polypeptide 1) is a Protein Coding gene. Diseases associated with UQCRFS1 include Mitochondrial Complex Iii Deficiency, Nuclear Type 10 and Lactic Acidosis. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 2 iron, 2 sulfur cluster binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 23168492 |
GO:0008121 | contributes_to ubiquinol-cytochrome-c reductase activity | IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO:0051536 | iron-sulfur cluster binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,IDA | 31883641 |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005750 | mitochondrial respiratory chain complex III | IDA | 23168492 |
GO:0005751 | mitochondrial respiratory chain complex IV | IDA | 23168492 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
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2 | Pathways of neurodegeneration - multiple diseases | ||
3 | Metabolism |
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4 | Prion disease |
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5 | Cardiac muscle contraction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006122 | mitochondrial electron transport, ubiquinol to cytochrome c | TAS | -- |
GO:0022904 | respiratory electron transport chain | IMP | 31883641 |
GO:0034551 | mitochondrial respiratory chain complex III assembly | IMP | 31883641 |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ubiquinone-2 | Experimental | Pharma | Target | 0 | ||
(5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE | Experimental | Pharma | Target | 0 | ||
(S)-famoxadone | Experimental | Pharma | Target | 0 | ||
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol | Experimental | Pharma | Target | 0 | ||
2-Nonyl-4-quinolinol 1-oxide | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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Hydrogen Ion |
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QH2 |
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56275-39-9 |
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This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Chimpanzee (Pan troglodytes) |
Mammalia | -- 31 |
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OneToMany | |
UQCRFS1 30 |
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-- 31 |
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OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | UQCRFS1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | UQCRFS1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Uqcrfs1 30 |
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Oppossum (Monodelphis domestica) |
Mammalia | UQCRFS1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | UQCRFS1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Uqcrfs1 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | UQCRFS1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | UQCRFS1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | uqcrfs1 30 |
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MGC76317 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | uqcrfs1-prov 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | uqcrfs1 30 31 31 |
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OneToMany | |
wufb05d11 30 |
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9102 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | RFeSP 30 31 32 |
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OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008955 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | isp-1 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL067W 30 |
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RIP1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E22573g 30 |
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Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G13440 30 |
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Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.689 30 |
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Rice (Oryza sativa) |
Liliopsida | Os04g0398500 30 |
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Os.6327 30 |
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Barley (Hordeum vulgare) |
Liliopsida | Hv.3657 30 |
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Wheat (Triticum aestivum) |
Liliopsida | Ta.13252 30 |
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Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rip1 30 |
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Bread mold (Neurospora crassa) |
Ascomycetes | NCU06606 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10532 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.5246 30 |
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SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1242465339 | Pathogenic: Cardiomyopathy; Lactic acidosis; Propionic acidemia; Mitochondrial complex 3 deficiency, nuclear type 10 | 29,207,763(-) |
G/A NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) |
NONSENSE | |
rs1568344751 | Pathogenic: Cardiomyopathy; Lactic acidosis; Propionic acidemia; Mitochondrial complex 3 deficiency, nuclear type 10 | 29,208,159(-) |
C/G NM_006003.3(UQCRFS1):c.215-1G>C |
SPLICE_ACCEPTOR | |
rs1568346416 | Pathogenic: Cardiomyopathy; Lactic acidosis; Propionic acidemia; Mitochondrial complex 3 deficiency, nuclear type 10 | 29,213,078(-) |
A/T NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) |
MISSENSE | |
rs4805344 | Benign: not provided | 29,207,902(-) |
G/A NM_006003.3(UQCRFS1):c.471C>T (p.Ser157=) |
SYNONYMOUS | |
VAR_083879 | Mitochondrial complex III deficiency, nuclear 10 (MC3DN10) [MIM:618775] |
p.Val14Asp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1034e212 | CNV | loss | 25503493 |
nsv1061604 | CNV | loss | 25217958 |
nsv2452 | CNV | insertion | 18451855 |
nsv579240 | CNV | gain | 21841781 |
nsv961205 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
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mitochondrial complex iii deficiency, nuclear type 10 |
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lactic acidosis |
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propionic acidemia |
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isolated complex iii deficiency |
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atrial standstill 1 |
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