CYP1B1
Cytochrome P450 Family 1 Subfamily B Member 1
Gene Information Card
| Symbol | CYP1B1 |
|---|---|
| Full Name | Cytochrome P450 Family 1 Subfamily B Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p22.2 |
| NCBI Gene ID | 1545 ncbi.nlm.nih.gov/gene/1545 |
| Ensembl ID | ENSG00000138061 |
| UniProt ID | Q16678 |
| OMIM ID | 601771 |
| HGNC ID | 2597 |
| Aliases | CP1B, GLC3A, P4501B1 |
Description
CYP1B1 encodes a member of the cytochrome P450 superfamily of enzymes. The protein localizes to the endoplasmic reticulum and metabolizes various xenobiotics, including polycyclic aromatic hydrocarbons, as well as endogenous substrates such as estradiol and arachidonic acid. CYP1B1 is expressed in multiple tissues, including the eye, and plays a critical role in ocular development. Mutations in CYP1B1 are a major cause of primary congenital glaucoma (PCG) and are also associated with other forms of glaucoma and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Congenital Glaucoma (PCG) | Loss-of-function mutations impair enzyme activity, leading to abnormal trabecular meshwork development and increased intraocular pressure. | ClinVar, OMIM |
| Juvenile Open-Angle Glaucoma | Heterozygous or compound heterozygous mutations reduce enzyme function, contributing to early-onset glaucoma. | ClinVar, OMIM |
| Anterior Segment Dysgenesis | Disrupted CYP1B1 activity alters retinoic acid signaling and ocular morphogenesis. | OMIM, PubMed |
| Breast Cancer | Polymorphisms (e.g., rs1056836) may alter estrogen metabolism, influencing cancer risk. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.4 | Not detected |
| Kidney | 0.6 | Not detected |
| Eye (ciliary body) | 12.3 | Medium |
| Eye (retina) | 8.5 | Medium |
| Adrenal gland | 5.2 | Low |
| Prostate | 3.1 | Low |
| Breast | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.2 | Not detected |
| MCF7 | 4.5 | Low |
| ARPE-19 | 9.8 | Medium |
| Primary trabecular meshwork cells | 15.6 | Medium |
| SK-OV-3 | 2.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1169G>A (p.Arg390His) | Missense | Common in PCG (up to 30% in some populations) | Loss of heme binding, reduced catalytic activity |
| c.182G>A (p.Gly61Glu) | Missense | Found in PCG families | Disrupts protein folding, loss of function |
| c.355G>T (p.Glu119*) | Nonsense | Rare | Premature truncation, complete loss of function |
| c.142C>T (p.Arg48Trp) | Missense | Observed in PCG | Reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Most CYP1B1 mutations in primary congenital glaucoma are loss-of-function, leading to reduced or absent enzyme activity.
Gain of Function (GOF)
No well-established gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type enzyme dimerization, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Metabolism of xenobiotics by cytochrome P450 (Reactome: R-HSA-211945)
• Estrogen metabolism (Reactome: R-HSA-2142753)
• Arachidonic acid metabolism (Reactome: R-HSA-2142750)
• Retinoic acid metabolism (Reactome: R-HSA-5365859)
Protein Summary
CYP1B1 is a 543-amino acid microsomal cytochrome P450 enzyme with a molecular weight of approximately 60.8 kDa. It contains a conserved heme-binding domain and a P450 signature motif. The protein is anchored to the endoplasmic reticulum membrane via an N-terminal transmembrane domain. CYP1B1 catalyzes the hydroxylation of estradiol (primarily at the 4-position) and the oxidation of polycyclic aromatic hydrocarbons. Its expression is induced by aryl hydrocarbon receptor (AhR) ligands. In the eye, CYP1B1 is essential for normal trabecular meshwork development and aqueous humor outflow regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP1B1 Knockout HEK293 Cell Line | EDJ-KQ2285 | Human | 1545 | Details Get a Quote |
| CYP1B1 Knockout A-549 Cell Line | EDJ-KQ22636 | Human | 1545 | Details Get a Quote |
| CYP1B1 Knockout HCT 116 Cell Line | EDJ-KQ22637 | Human | 1545 | Details Get a Quote |
| CYP1B1 Knockout HeLa Cell Line | EDJ-KQ22638 | Human | 1545 | Details Get a Quote |
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