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UQCRC1 (Ubiquinol-Cytochrome C Reductase Core Protein 1) is a Protein Coding gene. Diseases associated with UQCRC1 include Leukodystrophy, Hypomyelinating, 4 and Alzheimer Disease. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and ubiquinol-cytochrome-c reductase activity. An important paralog of this gene is PMPCB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0008121 | ubiquinol-cytochrome-c reductase activity | TAS | 8407948 |
GO:0031625 | ubiquitin protein ligase binding | IPI | 19725078 |
GO:0044877 | protein-containing complex binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA,IDA | -- |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005746 | mitochondrial respiratory chain | TAS | 8407948 |
GO:0005750 | mitochondrial respiratory chain complex III | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
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2 | Parkinson disease | ||
3 | Metabolism |
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4 | Cardiac muscle contraction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006119 | oxidative phosphorylation | TAS | 8407948 |
GO:0006122 | mitochondrial electron transport, ubiquinol to cytochrome c | IEA,TAS | -- |
GO:0009060 | aerobic respiration | TAS | 8407948 |
GO:0014823 | response to activity | IEA | -- |
GO:0043279 | response to alkaloid | 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 | |
---|---|---|---|---|---|---|
QH2 |
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56275-39-9 |
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ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | UQCRC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | UQCRC1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | UQCRC1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Uqcrc1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Uqcrc1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | UQCRC1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | UQCRC1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | UQCRC1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | UQCRC1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | uqcrc1 30 |
|
||
Str.7650 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | MGC53748 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | uqcrc1 30 31 |
|
OneToOne | |
zgc73404 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3731 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ucr-1 30 31 |
|
ManyToMany | |
ZC410.2 32 |
|
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|||
mppb-1 31 |
|
ManyToMany | |||
F56D2.1 32 |
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|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MAS1 31 |
|
OneToMany | |
COR1 33 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3431 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs144710790 | - | p.Asn301Ser | |||
rs17080284 | - | p.Asp215His |
Disorder | Aliases | PubMed IDs |
---|---|---|
leukodystrophy, hypomyelinating, 4 |
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alzheimer disease |
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leber optic atrophy |
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