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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
patatin like phospholipase domain containing 6
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 |
|---|---|---|
| glycerophospholipid catabolic process |
|
|
| phosphatidylcholine metabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum | ||
| cytosol | ||
| endoplasmic reticulum membrane |
|
|
| membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| phosphatidyl phospholipase B activity | ||
| lysophospholipase activity |
GO Hierarchy
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:0050572 | cone-rod dystrophy | |
| DOID:0050635 | alternating hemiplegia of childhood | |
| DOID:0050679 | blue cone monochromacy | |
| DOID:0050693 | Brooke-Spiegler syndrome | |
| DOID:0050753 | cerebellar ataxia | |
| DOID:0050817 | Stargardt disease | |
| DOID:0050886 | Troyer syndrome | |
| DOID:0060193 | amyotrophic lateral sclerosis type 1 | |
| DOID:0060194 | amyotrophic lateral sclerosis type 2 | |
| DOID:0060196 | amyotrophic lateral sclerosis type 4 |
- 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 |
|---|---|
| ORPHA:1180 |
|
| ORPHA:1173 |
|
| OMIM:215470 |
|
| ORPHA:3363 |
|
| ORPHA:2377 |
|
| OMIM:275400 |
|
| OMIM:612020 |
|
| ORPHA:139480 |
|
| 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 |
|---|---|---|---|
| 176225 | WB:WBGene00022718 | ||
| 187474 | WB:WBGene00010915 | ||
| 31716 | FB:FBgn0003656 | ||
| 560986 | ZFIN:ZDB-GENE-050107-4 | DANRE17285 | |
| 115147214 | SALTR36759 | ||
| 115178520 | SALTR68211 | ||
| 101155983 | ORYLA19384 | ||
| 100707824 | ORENI60675 | ||
| 108698146 | Xenbase:XB-GENE-6487418 | ||
| 108699878 | Xenbase:XB-GENE-17333994 |
