CYP4A11
Cytochrome P450 Family 4 Subfamily A Member 11
Gene Information Card
| Symbol | CYP4A11 |
|---|---|
| Full Name | Cytochrome P450 Family 4 Subfamily A Member 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p33 |
| NCBI Gene ID | 1579 ncbi.nlm.nih.gov/gene/1579 |
| Ensembl ID | ENSG00000187048 |
| UniProt ID | Q02928 |
| OMIM ID | 601377 |
| HGNC ID | 2642 |
| Aliases | CYP4A2, CYP4A11, CP4A11 |
Description
CYP4A11 encodes a member of the cytochrome P450 family 4 subfamily A, a monooxygenase that catalyzes the omega-hydroxylation of medium- and long-chain fatty acids, particularly arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE). This enzyme plays a critical role in blood pressure regulation, renal function, and vascular tone. Variants in CYP4A11 have been associated with hypertension and chronic kidney disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Reduced 20-HETE production due to loss-of-function variants impairs renal sodium excretion and increases vascular resistance. | ClinVar, OMIM |
| Chronic Kidney Disease | Altered fatty acid metabolism and 20-HETE levels contribute to renal fibrosis and progression of kidney disease. | NCBI Gene, PubMed |
| Cardiovascular Disease | Dysregulation of 20-HETE affects vascular tone and is implicated in endothelial dysfunction. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 45.7 | High |
| Small Intestine | 8.1 | Medium |
| Heart | 2.5 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HK-2 | 42.1 | Kidney proximal tubule epithelial cell line |
| Caco-2 | 9.8 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1126742 (V433M) | Missense | 0.05 (global) | Reduced enzyme activity; associated with hypertension |
| rs3890011 (R189C) | Missense | 0.02 (global) | Decreased 20-HETE production; linked to renal dysfunction |
| rs9333025 (I223V) | Missense | 0.01 (global) | Likely benign; no functional change reported |
Mutation functional classification
Loss of Function (LOF)
rs1126742 (V433M) reduces catalytic activity by ~50%, impairing arachidonic acid omega-hydroxylation.
Gain of Function (GOF)
No gain-of-function variants reported in ClinVar or COSMIC.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • arachidonic acid omega-hydroxylase activity | • heme binding |
| • iron ion binding | • oxidoreductase activity |
| • acting on paired donors | • with incorporation or reduction of molecular oxygen |
| • fatty acid omega-hydroxylase activity |
Pathways
• Arachidonic acid metabolism
• Biological oxidations
• Cytochrome P450 - arranged by substrate type
Protein Summary
CYP4A11 is a 519-amino acid microsomal cytochrome P450 enzyme that catalyzes the omega-hydroxylation of fatty acids, converting arachidonic acid to 20-HETE. It is highly expressed in the kidney and liver, where it regulates blood pressure and lipid metabolism. The protein contains a conserved heme-binding domain and is anchored to the endoplasmic reticulum membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP4A11 Knockout HEK293 Cell Line | EDJ-KQ4408 | Human | 1579 | Details Get a Quote |
| CYP4A11 Knockout HeLa Cell Line | EDJ-KQ53054 | Human | 1579 | Details Get a Quote |
| CYP4A11 Knockout A-549 Cell Line | EDJ-KQ61519 | Human | 1579 | Details Get a Quote |
| CYP4A11 Knockout HCT 116 Cell Line | EDJ-KQ70011 | Human | 1579 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
