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This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]
CYP2U1 (Cytochrome P450 Family 2 Subfamily U Member 1) is a Protein Coding gene. Diseases associated with CYP2U1 include Spastic Paraplegia 56, Autosomal Recessive and Paraplegia. Among its related pathways are Cytochrome P450 - arranged by substrate type and acetone degradation I (to methylglyoxal). Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP2R1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | IEA,TAS | -- |
GO:0005506 | iron ion binding | IEA | -- |
GO:0008395 | steroid hydroxylase activity | IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016705 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005743 | mitochondrial inner membrane | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type | ||
2 | Metabolism |
.40
|
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3 | superpathway of tryptophan utilization | ||
4 | Arachidonic acid metabolism | ||
5 | nicotine degradation IV |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006082 | organic acid metabolic process | IBA | 21873635 |
GO:0006805 | xenobiotic metabolic process | IBA | 21873635 |
GO:0019369 | arachidonic acid metabolic process | IEA | -- |
GO:0042738 | exogenous drug catabolic process | IBA | 21873635 |
GO:0055114 | oxidation-reduction process | IEA,IBA | 21873635 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CYP2U1 31 |
|
OneToOne | |
LOC471267 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | CYP2U1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CYP2U1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cyp2u1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cyp2u1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CYP2U1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CYP2U1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOC422528 30 |
|
||
CYP2U1 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | CYP2U1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cyp2u1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cyp2u1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp18a1 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G04330 30 |
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
641459 | Uncertain Significance: Spastic paraplegia | 107,949,458(+) | G/A | MISSENSE_VARIANT | |
649554 | Uncertain Significance: Spastic paraplegia | 107,950,373(+) | G/T | MISSENSE_VARIANT | |
653598 | Uncertain Significance: Spastic paraplegia | 107,944,996(+) | G/A | MISSENSE_VARIANT | |
654685 | Uncertain Significance: Spastic paraplegia | 107,945,483(+) | G/C | MISSENSE_VARIANT | |
654977 | Uncertain Significance: Spastic paraplegia | 107,945,369(+) | T/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 56, autosomal recessive |
|
|
paraplegia |
|
|
spastic paraplegia 28, autosomal recessive |
|
|
hereditary spastic paraplegia |
|
|
spastic paraplegia 46, autosomal recessive |
|
|