CYP1B1 Gene Summary [Human]
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 enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | CYP1B1 |
| Official Name | cytochrome P450 family 1 subfamily B member 1 [Source:HGNC Symbol;Acc:HGNC:2597] |
| Ensembl ID | ENSG00000138061 |
| Bio databases IDs | |
| Aliases | cytochrome P450 family 1 subfamily B member 1 |
| Synonyms | ASGD6, CP1B, CYPIB1, cytochrome P450 family 1 subfamily B member 1, cytochrome P450, family 1, subfamily b, polypeptide 1, GLC3A, P4501B1, P450Rap |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CYP1B1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cytochrome P450 (CYP) superfamily
- Cytochrome P450
- unspecific monooxygenase
- reduced flavin or flavoprotein:oxygen oxidoreductase
- oxidoreductase
- monooxygenase
- enzyme
- protein binding
- steroid hydroxylase
- heme binding
- NADH2 or NADPH2 1 atom incorporation:oxygen oxidoreductase
Pathways
Biological processes and signaling networks where the CYP1B1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- renal fibrosis
- epithelial cancer
- epithelial neoplasia
- cancer
- liver adenoma
- adenoma formation
- liver neoplasia
- benign neoplasia
- metastasis
role in cell
- formation
- formation in
- expression in
- apoptosis
- production in
- synthesis in
- phosphorylation in
- accumulation in
- cell death
- adhesion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microsomal fraction
- perinuclear region
- Nucleus
- Plasma Membrane
- Mitochondria
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CYP1B1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- benzene-containing compound metabolic process
- positive regulation of translation
- male gonad development
- retinol metabolic process
- blood vessel morphogenesis
- retinal metabolic process
- endothelial cell migration
- positive regulation of angiogenesis
- cellular response to luteinizing hormone stimulus
- arachidonic acid metabolic process
- positive regulation vascular endothelial growth factor production
- negative regulation of NF-kappaB transcription factor activity
- induction of apoptosis by oxidative stress
- response to nutrient
- membrane lipid catabolic process
- toxin metabolic process
- positive regulation of JAK-STAT cascade
- response to indole-3-methanol
- xenobiotic metabolic process
- cellular response to cAMP
- response to estradiol stimulus
- response to follicle-stimulating hormone stimulus
- nitric oxide biosynthetic process
- sterol metabolic process
- cellular response to organic cyclic compound
- negative regulation of cell migration
- endothelial cell-cell adhesion
- negative regulation of cell proliferation
- steroid metabolic process
- cell adhesion
- DNA modification
- trabecular meshwork development
- omega-hydroxylase P450 pathway
- cellular response to progesterone stimulus
- response to arsenic-containing substance
- angiogenesis
- regulation of reactive oxygen species metabolic process
- cellular response to tumor necrosis factor
- cellular response to hydrogen peroxide
- positive regulation of smooth muscle cell migration
- positive regulation of DNA biosynthetic process
- adrenal gland development
- positive regulation of reactive oxygen species metabolic process
- estrogen metabolic process
- blood vessel endothelial cell migration
- retinal blood vessel morphogenesis
- negative regulation of cell adhesion mediated by integrin
- epoxygenase P450 pathway
- cellular response to cortisol stimulus
- positive regulation of apoptotic process
- cellular response to toxin
- collagen fibril organization
- response to dexamethasone stimulus
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- intracellular membrane-bounded organelle
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
- protein binding
- iron ion binding
- aromatase activity
- monooxygenase activity
- heme binding