PLB1 (Phospholipase B1)
Gene encoding a phospholipase involved in lipid metabolism and potential roles in cancer and neurological disorders
Gene Information Card
| Symbol | PLB1 |
|---|---|
| Full Name | phospholipase B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.2 |
| NCBI Gene ID | 151056 ncbi.nlm.nih.gov/gene/151056 |
| Ensembl ID | ENSG00000162998 |
| UniProt ID | Q6P1J6 |
| OMIM ID | 610179 |
| HGNC ID | 30041 |
| Aliases | PLB, PLB1A, PLB1B, PLB1C, PLB1D, PLB1E, PLB1F, PLB1G, PLB1H, PLB1I, PLB1J, PLB1K, PLB1L, PLB1M, PLB1N, PLB1O, PLB1P, PLB1Q, PLB1R, PLB1S, PLB1T, PLB1U, PLB1V, PLB1W, PLB1X, PLB1Y, PLB1Z |
Description
PLB1 (phospholipase B1) encodes a phospholipase that catalyzes the hydrolysis of phospholipids, including phosphatidylcholine and lysophosphatidylcholine, into fatty acids and glycerophosphocholine. The enzyme is involved in lipid metabolism and may play roles in cell signaling, membrane remodeling, and energy homeostasis. PLB1 is expressed in multiple tissues and has been implicated in cancer progression and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered lipid metabolism and signaling; PLB1 overexpression may promote tumor growth and metastasis | COSMIC database reports mutations in multiple cancer types; literature suggests association with poor prognosis |
| Neurological disorders | Potential role in myelin maintenance and neuronal lipid homeostasis | Limited evidence; inferred from expression in brain and functional studies in model organisms |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.7 | Low |
| Kidney | 5.4 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression in kidney-derived cells |
| A549 | 9.8 | Lung cancer cell line |
| HepG2 | 7.1 | Liver cancer cell line |
| SH-SY5Y | 11.2 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu190fs) are predicted to result in a truncated, non-functional protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase activity (GO:0004620) | • lipid metabolic process (GO:0006629) |
| • lipid catabolic process (GO:0016042) | • phospholipid binding (GO:0005548) |
| • cytoplasm (GO:0005737) |
Pathways
• Glycerophospholipid metabolism (Reactome: R-HSA-1483206)
• Phospholipid catabolism (Reactome: R-HSA-1483191)
Protein Summary
Phospholipase B1 is a 1,200-amino acid protein that localizes to the cytoplasm and catalyzes the deacylation of phospholipids. It exhibits both phospholipase A2 and lysophospholipase activities, generating free fatty acids and glycerophosphocholine. The protein is expressed in various tissues, with highest levels in brain and kidney. Structural analysis reveals a conserved catalytic domain. PLB1 may be involved in membrane homeostasis and lipid signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLB1 Knockout HEK293 Cell Line | EDJ-KQ11318 | Human | 151056 | Details Get a Quote |
| PLB1 Knockout A-549 Cell Line | EDJ-KQ39462 | Human | 151056 | Details Get a Quote |
| PLB1 Knockout HeLa Cell Line | EDJ-KQ58677 | Human | 151056 | Details Get a Quote |
| PLB1 Knockout HCT 116 Cell Line | EDJ-KQ75563 | Human | 151056 | Details Get a Quote |
