VKORC1L1: Vitamin K Epoxide Reductase Complex Subunit 1 Like 1
A paralog of VKORC1 involved in vitamin K metabolism and redox regulation
Gene Information Card
| Symbol | VKORC1L1 |
|---|---|
| Full Name | Vitamin K Epoxide Reductase Complex Subunit 1 Like 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q11.21 |
| NCBI Gene ID | 154807 ncbi.nlm.nih.gov/gene/154807 |
| Ensembl ID | ENSG00000196715 |
| UniProt ID | Q8N0U8 |
| OMIM ID | 608835 |
| HGNC ID | 28683 |
| Aliases | VKORC1L, dJ916L7.1 |
Description
VKORC1L1 (Vitamin K Epoxide Reductase Complex Subunit 1 Like 1) is a protein-coding gene that encodes a paralog of VKORC1. The encoded protein is a component of the vitamin K epoxide reductase complex, which is essential for the reduction of vitamin K epoxide to vitamin K hydroquinone, a cofactor for gamma-glutamyl carboxylation of clotting factors. VKORC1L1 may play a role in extrahepatic vitamin K metabolism and is implicated in warfarin resistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Warfarin resistance | Altered vitamin K epoxide reductase activity due to VKORC1L1 variants may reduce warfarin sensitivity | ClinVar, OMIM |
| Vitamin K deficiency | Impaired gamma-carboxylation of coagulation factors due to reduced VKORC1L1 function | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Lung | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
| A549 | 5.4 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.172C>T (p.Arg58Trp) | Missense | <0.01% | Reduced enzymatic activity |
| c.383G>A (p.Arg128His) | Missense | <0.01% | Altered warfarin binding |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg58Trp) reduce vitamin K epoxide reductase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • isomerase activity (GO:0016853) |
| • vitamin K epoxide reductase activity (GO:0042301) | • blood coagulation (GO:0007596) |
| • epoxide metabolic process (GO:0019373) |
Pathways
• Vitamin K metabolism (Reactome: R-HSA-6806667)
• Gamma-carboxylation of coagulation factors (Reactome: R-HSA-159854)
Protein Summary
The VKORC1L1 protein is a transmembrane enzyme localized to the endoplasmic reticulum. It catalyzes the reduction of vitamin K epoxide to vitamin K hydroquinone, a critical step in the vitamin K cycle. Unlike VKORC1, VKORC1L1 is more widely expressed in extrahepatic tissues and may contribute to local vitamin K recycling. The protein contains a conserved CXXC redox-active motif essential for catalytic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VKORC1L1 Knockout HEK293 Cell Line | EDJ-KQ16102 | Human | 154807 | Details Get a Quote |
| VKORC1L1 Knockout A-549 Cell Line | EDJ-KQ47254 | Human | 154807 | Details Get a Quote |
| VKORC1L1 Knockout HCT 116 Cell Line | EDJ-KQ47255 | Human | 154807 | Details Get a Quote |
| VKORC1L1 Knockout HeLa Cell Line | EDJ-KQ47256 | Human | 154807 | Details Get a Quote |
