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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. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]
CYP1A2 (Cytochrome P450 Family 1 Subfamily A Member 2) is a Protein Coding gene. Diseases associated with CYP1A2 include Porphyria Cutanea Tarda and Acetaminophen Metabolism. Among its related pathways are Cytochrome P450 - arranged by substrate type and Imipramine/Desipramine Pathway, Pharmacokinetics. Gene Ontology (GO) annotations related to this gene include enzyme binding and iron ion binding. An important paralog of this gene is CYP1A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | IDA,TAS | -- |
GO:0005506 | iron ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 26988023 |
GO:0009055 | electron transfer activity | TAS | 2813353 |
GO:0016491 | oxidoreductase activity | IDA | 16401082 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0031090 | organelle membrane | IEA | -- |
GO:0043231 | intracellular membrane-bounded organelle | IBA,IDA | 2813353 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Drug metabolism - cytochrome P450 |
Retinol metabolism
.31
|
Benzo[a]pyrene metabolism
.01
|
2 | Imipramine/Desipramine Pathway, Pharmacokinetics | ||
3 | Cytochrome P450 - arranged by substrate type |
.39
|
.01
Estradiol metabolism
.01
|
4 | Caffeine Pathway, Pharmacokinetics | ||
5 | Acetaminophen Pathway (therapeutic doses), Pharmacokinetics |
Acetaminophen metabolism
.42
|
2-Naphthylamine and 2-Nitronaphtalene metabolism
.31
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0006706 | steroid catabolic process | IMP | 18356043 |
GO:0006725 | cellular aromatic compound metabolic process | IEA | -- |
GO:0006778 | porphyrin-containing compound metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Caffeine | Approved | Pharma | Antagonist, Activator, Enzyme, substrate, inhibitor | 603 | ||
Carbamazepine | Approved, Investigational | Pharma | Enzyme, inhibitor, inducer | Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant | 104 | |
Fluvoxamine | Approved, Investigational | Pharma | Enzyme, substrate, inhibitor | 63 | ||
Ketoconazole | Approved, Investigational | Pharma | Pore Blocker, Enzyme, inhibitor | Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor | 194 | |
Omeprazole | Approved, Investigational, Vet_approved | Pharma | Activator, Enzyme, inducer | H+,K+-ATPase inhibitor | 436 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
1,7-Dimethyluric acid |
|
|||||
1-Methylxanthine |
|
|||||
Aflatoxin B1 |
|
1162-65-8 | ||||
Paraxanthine |
|
611-59-6 | ||||
11,12,15-THETA |
|
|
Compound | Action | Cas Number |
---|---|---|
Abiraterone acetate | Cytochrome p450 17a1 inhibitor | 154229-18-2 |
Avasimibe | ACAT inhibitor,orally bioavailable | 166518-60-1 |
Gemfibrozil | 25812-30-0 | |
Ifosfamide | Cytostatic agent | 3778-73-2 |
Ketoconazole | Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase | 65277-42-1 |
Methoxyresorufin | 5725-89-3 | |
Oltipraz | An antischistosomal agent | 64224-21-1 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CYP1A2 31 |
|
OneToOne | |
LOC735881 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | CYP1A2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CYP1A2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cyp1a2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cyp1a2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | CYP1A1 31 |
|
ManyToMany | |
CYP1A4 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | cyp1a 31 |
|
OneToMany | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11738 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp307a1 32 |
|
|
|
spok 31 |
|
ManyToMany | |||
spo 31 |
|
ManyToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CYP703A2 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os08g0131100 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
675798 | Benign: not provided | 74,755,085(+) | T/. | NO_SEQUENCE_ALTERATION | |
713008 | Likely Benign: not provided | 74,750,131(+) | G/A | SYNONYMOUS_VARIANT | |
721012 | Likely Benign: not provided | 74,751,198(+) | C/T | MISSENSE_VARIANT | |
739045 | Likely Benign: not provided | 74,750,044(+) | C/T | SYNONYMOUS_VARIANT | |
742234 | Benign: not provided | 74,754,996(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3581763 | CNV | loss | 25503493 |
nsv1121512 | CNV | deletion | 24896259 |
nsv833055 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
porphyria cutanea tarda |
|
|
acetaminophen metabolism |
|
|
antley-bixler syndrome |
|
|
headache |
|
|
anxiety |
|
|