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MIRAGE
patatin like domain 6, lysophospholipase
Summary
- Gene Symbol
-
- PNPLA6
- Aliases
-
- NTE
- SPG39
- iPLA2delta
- neuropathy target esterase
- sws
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Disease variant
- Dwarfism
- Endoplasmic reticulum
- Glycoprotein
- Hereditary spastic paraplegia
- Hydrolase
- Hypogonadotropic hypogonadism
- Intellectual disability
- Lipid degradation
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Retinitis pigmentosa
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A384DVU0 |
|
| Q8IY17 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| phosphatidylcholine metabolic process | ||
| glycerophospholipid catabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum | ||
| endoplasmic reticulum | ||
| endoplasmic reticulum membrane | ||
| cytosol | ||
| membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| lysophospholipase activity | ||
| lysophospholipase activity | ||
| lysophospholipase activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Patatin-like phospholipase domain-containing protein
- Functional Category
-
- E: Amino acid transport and metabolism
- K: Transcription
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| hydrolase activity |
| lipid metabolic process |
| phosphatidylcholine metabolic process |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110790 | hereditary spastic paraplegia 39 | |
| DOID:0111265 | Boucher-Neuhauser syndrome | |
| DOID:0111271 | Oliver-McFarlane syndrome | |
| DOID:1930 | Laurence-Moon syndrome |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000046 | Small scrotum |
| HP:0000054 | Micropenis |
| HP:0000083 | Renal insufficiency |
| HP:0000135 | Hypogonadism |
| HP:0000144 | Decreased fertility |
| HP:0000164 | Abnormality of the dentition |
| HP:0000248 | Brachycephaly |
| Disease ID | Disease Name |
|---|---|
| OMIM:215470 |
|
| OMIM:612020 |
|
| ORPHA:139480 |
|
| ORPHA:1180 |
|
| ORPHA:1173 |
|
| OMIM:275400 |
|
| ORPHA:3363 |
|
| ORPHA:2377 |
|
| OMIM:245800 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP006668
- Gene Name
- patatin-like phospholipase domain containing 6
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 10908 | Xenbase:XB-GENE-6487418 | ||
| 50767 | ZFIN:ZDB-GENE-050107-4 | MOUSE59203 | |
| 360753 | RATNO05982 | ||
| 375775 | SGD:S000004524 | ||
| 455659 | PANTR16980 | ||
| 484993 | CANLF07909 | ||
| 560986 | DANRE17285 | ||
| 767822 | BOVIN32696 | ||
| 854943 | ZFIN:ZDB-GENE-050107-4 | ||
| 100027027 | MONDO20598 |
