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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 endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
CYP39A1 (Cytochrome P450 Family 39 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP39A1 include Leber Plus Disease. Among its related pathways are Cytochrome P450 - arranged by substrate type and Synthesis of bile acids and bile salts. 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 CYP7B1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | IEA | -- |
GO:0005506 | iron ion binding | IEA | -- |
GO:0008387 | steroid 7-alpha-hydroxylase activity | IBA | 21873635 |
GO:0008395 | steroid hydroxylase activity | IBA | 21873635 |
GO:0008396 | oxysterol 7-alpha-hydroxylase activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0031090 | organelle membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type | ||
2 | Synthesis of bile acids and bile salts | ||
3 | Metabolism |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006699 | bile acid biosynthetic process | IBA,TAS | -- |
GO:0006707 | cholesterol catabolic process | IEA | -- |
GO:0007586 | digestion | TAS | 10748047 |
GO:0008202 | steroid metabolic process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(24R)-Cholest-5-ene-3-beta,24-diol |
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(24R)-Cholest-5-ene-3-beta,7-alpha,24-triol |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CYP39A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CYP39A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CYP39A1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cyp39a1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cyp39a1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CYP39A1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CYP39A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CYP39A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CYP39A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100486848 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cyp39a1 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5434 30 |
|
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs12192544 | - | p.Arg23Pro | |||
rs17856332 | - | p.Tyr288His | |||
rs2277119 | - | p.Arg103His | |||
rs41273654 | - | p.Lys329Gln | |||
rs7761731 | - | p.Asn324Lys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2662881 | CNV | deletion | 23128226 |
esv3608885 | CNV | loss | 21293372 |
nsv1109774 | CNV | deletion | 24896259 |
nsv348640 | CNV | deletion | 16902084 |
Disorder | Aliases | PubMed IDs |
---|---|---|
leber plus disease |
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