PNPLA6 Gene Summary [Human]
This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | PNPLA6 |
| Official Name | patatin like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:HGNC:16268] |
| Ensembl ID | ENSG00000032444 |
| Bio databases IDs | |
| Aliases | patatin like phospholipase domain containing 6, neuropathy target esterase |
| Synonyms | BNHS, iPLA2delta, LNMS, MSws, NTE, NTEMND, OMCS, patatin-like phospholipase domain containing 6, RGD1564611, SPG39, sws |
| Species | Human, Homo sapiens |
| 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 human 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 human 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