Pnpla6 Gene Summary [Mouse]
Enables lysophospholipase activity. Acts upstream of or within angiogenesis and animal organ morphogenesis. Located in membrane. Is expressed in several structures, including brain; cranial nerve; epithelium; extraembryonic component; and genitourinary system. Human ortholog(s) of this gene implicated in Boucher-Neuhauser syndrome; Laurence-Moon syndrome; Oliver-McFarlane syndrome; and hereditary spastic paraplegia 39. Orthologous to human PNPLA6 (patatin like phospholipase domain containing 6). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pnpla6 |
| Official Name | patatin-like phospholipase domain containing 6 [Source:MGI Symbol;Acc:MGI:1354723] |
| Ensembl ID | ENSMUSG00000004565 |
| Bio databases IDs | |
| Aliases | patatin-like phospholipase domain containing 6 |
| Synonyms | BNHS, iPLA2delta, LNMS, MSws, NTE, NTEMND, OMCS, patatin-like phospholipase domain containing 6, RGD1564611, SPG39, sws |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pnpla6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- esterase domain
- Patatins and Phospholipases
- carboxylic ester hydrolase
- Cyclic nucleotide-binding domain
- regulatory domain
- lysophospholipase
- transmembrane domain
- bacteriocin-type transport-associated protein
- enzyme
- CAP_ED
- Cyclic nucleotide-monophosphate binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary spastic paraplegia autosomal recessive 39
- Oliver-McFarlane syndrome
- Boucher-Neuhauser syndrome
- Laurence-Moon syndrome
- Kallmann syndrome
- retinal dystrophy
- hereditary spastic ataxia
- hereditary spastic paraplegia
- hereditary disorder
- PNPLA6-related spastic paraplegia with or without ataxia
regulates
- colfosceril palmitate
- sn-glycero-3-phosphocholine
- dioleoyl phosphatidylethanolamine
- 2-arachidonoylglycerol
- 2-oleoylglycerol
- L-alpha-palmitoyloleolyl-phosphatidylcholine
- 2-palmitoylglycerol
- phosphatidylcholine
- 1-palmitoylglycerol
- 1-palmitoyl-2-arachidonyl-sn-glycero-3-phosphorylcholine
role in cell
- accumulation in
- survival
- morphology
- differentiation
- lesioning
- swelling
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- perinuclear region
- cellular membrane
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pnpla6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phosphatidylcholine metabolic process
- glycerophospholipid catabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- cytosol
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- lysophospholipase activity