Gene
pnpla6
- ID
- ZDB-GENE-050107-4
- Name
- patatin-like phospholipase domain containing 6
- Symbol
- pnpla6 Nomenclature History
- Previous Names
-
- nte (1)
- wu:fy20f06
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have lysophospholipase activity. Involved in anterior/posterior axis specification; axonogenesis; and negative regulation of BMP signaling pathway. Predicted to localize to endoplasmic reticulum. 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).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Boucher-Neuhauser syndrome | Alliance | Boucher-Neuhauser syndrome | 215470 |
| hereditary spastic paraplegia 39 | Alliance | Spastic paraplegia 39, autosomal recessive | 612020 |
| Laurence-Moon syndrome | Alliance | ?Laurence-Moon syndrome | 245800 |
| Oliver-McFarlane syndrome | Alliance | Oliver-McFarlane syndrome | 275400 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR001423 | Lysophospholipase patatin, conserved site |
| Domain | IPR000595 | Cyclic nucleotide-binding domain |
| Domain | IPR002641 | Patatin-like phospholipase domain |
| Family | IPR050301 | Neuropathy target esterase |
| Homologous_superfamily | IPR014710 | RmlC-like jelly roll fold |
| Homologous_superfamily | IPR016035 | Acyl transferase/acyl hydrolase/lysophospholipase |
| Homologous_superfamily | IPR018490 | Cyclic nucleotide-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Acyl transferase/acyl hydrolase/lysophospholipase | Cyclic nucleotide-binding domain | Cyclic nucleotide-binding domain superfamily | Lysophospholipase patatin, conserved site | Neuropathy target esterase | Patatin-like phospholipase domain | RmlC-like jelly roll fold |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2B6R2
|
1343 | |||||||
|
UniProtKB:A0A8M2B788
|
1343 | |||||||
|
UniProtKB:F1R844
|
1342 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pnpla6-201
(1)
|
Ensembl | 771 nt | ||
| mRNA |
pnpla6-202
(1)
|
Ensembl | 7,644 nt | ||
| mRNA |
pnpla6-203
(1)
|
Ensembl | 638 nt |
Interactions and Pathways
No data available
Plasmids
No data available