LPIN3 Gene - Lipin 3
A member of the lipin family involved in lipid metabolism and adipogenesis
Gene Information Card
| Symbol | LPIN3 |
|---|---|
| Full Name | Lipin 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 64900 ncbi.nlm.nih.gov/gene/64900 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9BQK8 |
| OMIM ID | 609740 |
| HGNC ID | 14453 |
| Aliases | LIPN3, PAP-3, lipin-3 |
Description
LPIN3 encodes lipin 3, a member of the lipin family of phosphatidate phosphatases (PAP). Lipin 3 catalyzes the dephosphorylation of phosphatidate to diacylglycerol, a key step in triglyceride and phospholipid biosynthesis. It also functions as a transcriptional coactivator in lipid metabolism and adipogenesis. LPIN3 is expressed in multiple tissues, with highest levels in adipose tissue, liver, and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lipodystrophy (potential) | Altered lipid storage and adipogenesis due to LPIN3 dysfunction | Limited evidence; inferred from lipin family studies (OMIM 609740) |
| Metabolic syndrome (potential) | Impaired triglyceride synthesis and insulin sensitivity | Association studies (NCBI Gene) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Skeletal muscle | 6.1 | Low |
| Heart | 4.2 | Low |
| Kidney | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 5.0 | Hepatocellular carcinoma cell line |
| 3T3-L1 | 15.2 | Adipocyte precursor cell line |
| C2C12 | 7.8 | Myoblast cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional effect (ClinVar) |
| c.567delG (p.Gly190Valfs*12) | Frameshift | <0.01% | Predicted loss of function (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delG) likely cause loss of PAP enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidate phosphatase activity (GO:0008970) | • lipid metabolic process (GO:0006629) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
| • membrane (GO:0016020) |
Pathways
• Glycerolipid metabolism (Reactome: R-HSA-1483206)
• Triglyceride biosynthesis (KEGG: hsa00561)
Protein Summary
Lipin 3 is a 890-amino acid protein with a conserved N-terminal lipin domain and a C-terminal haloacid dehalogenase (HAD)-like phosphatase domain. It functions as a phosphatidate phosphatase (PAP) converting phosphatidate to diacylglycerol, and also acts as a transcriptional coactivator for PPARGC1A and PPARA. The protein is localized in both the cytoplasm and nucleus, reflecting its dual enzymatic and transcriptional roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LPIN3 Knockout HEK293 Cell Line | EDJ-KQ1173 | Human | 64900 | Details Get a Quote |
| LPIN3 Knockout HCT 116 Cell Line | EDJ-KQ19088 | Human | 64900 | Details Get a Quote |
| LPIN3 Knockout A-549 Cell Line | EDJ-KQ20438 | Human | 64900 | Details Get a Quote |
| LPIN3 Knockout HeLa Cell Line | EDJ-KQ20440 | Human | 64900 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
