LYPLA1
Lysophospholipase 1
Gene Information Card
| Symbol | LYPLA1 |
|---|---|
| Full Name | Lysophospholipase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q11.23 |
| NCBI Gene ID | 11344 ncbi.nlm.nih.gov/gene/11344 |
| Ensembl ID | ENSG00000120907 |
| UniProt ID | O75608 |
| OMIM ID | 606358 |
| HGNC ID | 6738 |
| Aliases | APT1, LPL-I, LPL1, hAPT1 |
Description
LYPLA1 encodes lysophospholipase 1, an enzyme that catalyzes the hydrolysis of lysophospholipids to fatty acids and glycerol-3-phosphate. It also functions as an acyl protein thioesterase, removing palmitate from modified proteins. The gene is involved in lipid metabolism and protein depalmitoylation, with implications in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered depalmitoylation of signaling proteins (e.g., HRAS, SRC) may promote oncogenic signaling. | COSMIC; PMID: 20628086 |
| Huntington disease | LYPLA1 interacts with huntingtin protein; altered palmitoylation may contribute to pathogenesis. | PMID: 21504829 |
| Schizophrenia | Genetic association studies link LYPLA1 variants to schizophrenia risk. | PMID: 21743477 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Heart | 6.5 | Low |
| Kidney | 9.1 | Medium |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression |
| HeLa | 8.9 | Medium expression |
| K562 | 6.1 | Low expression |
| SH-SY5Y | 11.5 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.344C>T (p.Pro115Leu) | Missense | <0.01% | Reduced enzymatic activity in vitro |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Altered substrate specificity |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish lysophospholipase or depalmitoylation activity (e.g., start loss, catalytic site variants).
Gain of Function (GOF)
Not well documented; no confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not established for LYPLA1.
View complete mutation data：
Gene Ontology (GO)
| • lysophospholipase activity | • palmitoyl-(protein) hydrolase activity |
| • hydrolase activity | • lipid metabolic process |
| • protein depalmitoylation | • cytoplasm |
Pathways
• Glycerophospholipid metabolism
• Protein palmitoylation/depalmitoylation
Protein Summary
LYPLA1 (APT1) is a 230-amino-acid cytosolic enzyme that hydrolyzes lysophospholipids and removes palmitate from S-acylated proteins. It plays a key role in regulating protein localization and signaling by controlling palmitoylation dynamics. The protein is ubiquitously expressed, with highest levels in brain and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LYPLA1 Knockout HEK293 Cell Line | EDJ-KQ50969 | Human | 10434 | Details Get a Quote |
| LYPLA1 Knockout HeLa Cell Line | EDJ-KQ55407 | Human | 10434 | Details Get a Quote |
| LYPLA1 Knockout A-549 Cell Line | EDJ-KQ63888 | Human | 10434 | Details Get a Quote |
| LYPLA1 Knockout HCT 116 Cell Line | EDJ-KQ72345 | Human | 10434 | Details Get a Quote |
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