CYP4B1
Cytochrome P450 Family 4 Subfamily B Member 1
Gene Information Card
| Symbol | CYP4B1 |
|---|---|
| Full Name | Cytochrome P450 Family 4 Subfamily B Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p33 |
| NCBI Gene ID | 1580 ncbi.nlm.nih.gov/gene/1580 |
| Ensembl ID | ENSG00000142973 |
| UniProt ID | P13584 |
| OMIM ID | 124075 |
| HGNC ID | 2642 |
| Aliases | CYPIVB1, P-450HP |
Description
CYP4B1 is a member of the cytochrome P450 superfamily of enzymes. The protein localizes to the endoplasmic reticulum and is involved in the omega-hydroxylation of fatty acids and the metabolism of various xenobiotics. It is predominantly expressed in extrahepatic tissues, particularly the lung, and plays a role in the bioactivation of certain prodrugs and toxins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bladder cancer | Altered CYP4B1 expression may affect metabolism of carcinogens; potential biomarker | PMID: 25662013 |
| Lung cancer | CYP4B1 expression is reduced in lung tumors; may influence detoxification of pulmonary toxins | PMID: 10899133 |
| Pulmonary fibrosis | CYP4B1 polymorphisms associated with susceptibility to fibrotic lung disease | PMID: 17090580 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Trachea | 8.3 | Low |
| Kidney | 6.1 | Low |
| Liver | 1.2 | Not detected |
| Small intestine | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 10.2 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 0.5 | Low expression |
| BEAS-2B (bronchial epithelial) | 14.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1297C>T (p.Arg433Trp) | missense | <0.01% | Reduced enzyme activity; associated with altered drug metabolism |
| c.1465C>T (p.Arg489Trp) | missense | <0.01% | Loss of function; reduced catalytic activity |
Mutation functional classification
Loss of Function (LOF)
p.Arg489Trp reduces CYP4B1 catalytic activity, impairing fatty acid hydroxylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • monooxygenase activity (GO:0004497) | • iron ion binding (GO:0005506) |
| • arachidonic acid omega-hydroxylase activity (GO:0008391) | • integral component of membrane (GO:0016021) |
| • heme binding (GO:0020037) | • oxidation-reduction process (GO:0055114) |
Pathways
• REACT:211981 (Fatty acid omega-oxidation)
• REACT:111045 (Xenobiotic metabolism)
Protein Summary
CYP4B1 is a 511-amino acid microsomal cytochrome P450 enzyme that catalyzes the omega-hydroxylation of medium- and long-chain fatty acids, including lauric acid and arachidonic acid. It also metabolizes several xenobiotics, such as 2-aminofluorene and certain prodrugs. The protein is highly expressed in lung and trachea, with lower levels in kidney and minimal expression in liver. Structural studies indicate a conserved heme-binding domain typical of cytochrome P450 enzymes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP4B1 Knockout HEK293 Cell Line | EDJ-KQ3676 | Human | 1580 | Details Get a Quote |
| CYP4B1 Knockout HeLa Cell Line | EDJ-KQ53055 | Human | 1580 | Details Get a Quote |
| CYP4B1 Knockout A-549 Cell Line | EDJ-KQ61520 | Human | 1580 | Details Get a Quote |
| CYP4B1 Knockout HCT 116 Cell Line | EDJ-KQ70012 | Human | 1580 | Details Get a Quote |
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