LYPLAL1
Lysophospholipase Like 1
Gene Information Card
| Symbol | LYPLAL1 |
|---|---|
| Full Name | Lysophospholipase Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 127018 ncbi.nlm.nih.gov/gene/127018 |
| Ensembl ID | ENSG00000143384 |
| UniProt ID | Q5VWZ2 |
| OMIM ID | 614606 |
| HGNC ID | 28009 |
| Aliases | C1orf43, LPLA1, LPLAL1 |
Description
LYPLAL1 encodes a member of the alpha/beta hydrolase superfamily that exhibits lysophospholipase activity, catalyzing the hydrolysis of lysophospholipids to fatty acids and glycerol-3-phosphate. The enzyme is involved in lipid metabolism and has been implicated in adipocyte function and energy homeostasis. Genome-wide association studies have linked variants in LYPLAL1 to obesity-related traits and type 2 diabetes risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | GWAS variants in LYPLAL1 are associated with body mass index and waist-to-hip ratio, suggesting a role in adiposity regulation. | GWAS catalog (PMID: 25673413) |
| Type 2 Diabetes | Risk alleles in LYPLAL1 correlate with insulin resistance and glucose metabolism disturbances. | GWAS catalog (PMID: 25673413) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Low |
| Pancreas | 6.1 | Low |
| Skeletal muscle | 5.4 | Low |
| Kidney | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 9.8 | Hepatocellular carcinoma cell line |
| 3T3-L1 | 15.2 | Adipocyte precursor cell line |
| HeLa | 3.1 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs4846567 | SNP | 0.25 (European) | Associated with increased waist-to-hip ratio |
| rs2605100 | SNP | 0.30 (European) | Associated with obesity risk |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • lysophospholipase activity | • hydrolase activity |
| • lipid metabolic process | • plasma membrane |
Pathways
• Glycerophospholipid metabolism
• Lysophospholipid metabolism
Protein Summary
The LYPLAL1 protein (UniProt Q5VWZ2) is a 226-amino acid lysophospholipase localized to the plasma membrane. It contains a conserved alpha/beta hydrolase fold and a catalytic triad (Ser-Asp-His). The enzyme preferentially hydrolyzes lysophosphatidylcholine and lysophosphatidylethanolamine, contributing to lipid remodeling and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LYPLAL1 Knockout HEK293 Cell Line | EDJ-KQ9007 | Human | 127018 | Details Get a Quote |
| LYPLAL1 Knockout HCT 116 Cell Line | EDJ-KQ34191 | Human | 127018 | Details Get a Quote |
| LYPLAL1 Knockout A-549 Cell Line | EDJ-KQ35450 | Human | 127018 | Details Get a Quote |
| LYPLAL1 Knockout HeLa Cell Line | EDJ-KQ35452 | Human | 127018 | Details Get a Quote |
