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This gene encodes a member of the cytosolic phospholipase A2 group IV family. Members of this family are involved in regulation of membrane tubule-mediated transport. The enzyme encoded by this member of the family plays a role in trafficking through the clathrin-independent endocytic pathway. The enzyme regulates the recycling process via formation of tubules that transport internalized clathrin-independent cargo proteins back to the cell surface. [provided by RefSeq, Jan 2017]
PLA2G4E (Phospholipase A2 Group IVE) is a Protein Coding gene. Diseases associated with PLA2G4E include Congenital Disorder Of Glycosylation, Type Iic and Cerebral Creatine Deficiency Syndrome 3. Among its related pathways are Acyl chain remodelling of PE and Phospholipase D signaling pathway. Gene Ontology (GO) annotations related to this gene include phospholipase A2 activity and phospholipase activity. An important paralog of this gene is JMJD7-PLA2G4B.
Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004620 | phospholipase activity | IEA | -- |
GO:0004623 | phospholipase A2 activity | IBA | 21873635 |
GO:0005509 | calcium ion binding | IBA | 21873635 |
GO:0005544 | calcium-dependent phospholipid binding | IBA | 21873635 |
GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | -- |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IEA,ISS | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis | ||
2 | Acyl chain remodelling of PE | ||
3 | Linoleic acid metabolism | ||
4 | Metabolism |
.40
|
|
5 | Phospholipase D signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006644 | phospholipid metabolic process | TAS | -- |
GO:0009395 | phospholipid catabolic process | IEA | -- |
GO:0016042 | lipid catabolic process | IEA | -- |
GO:0036149 | phosphatidylinositol acyl-chain remodeling | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
linoleic acid | Approved, Experimental | Pharma | Agonist, Full agonist, Activator, Pore Blocker, Channel blocker | 0 | ||
Palmitic Acid | Approved | Pharma | Agonist, Full agonist | 27 | ||
Stearic acid | Approved, Experimental | Pharma | 0 | |||
Water | Approved | Pharma | 0 | |||
alpha-linolenic acid | Approved, Investigational | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Arachidic acid |
|
506-30-9 |
|
|||
Heptadecanoic acid |
|
506-12-7 |
|
|||
Heptadecanoyl CoA |
|
3546-17-6 |
|
|||
PC(18:1(9Z)e/2:0) |
|
|
||||
Pentadecanoic acid |
|
1002-84-2 |
|
Compound | Action | Cas Number |
---|---|---|
AACOCF3 | Phospholipase A2 inhibitor | 149301-79-1 |
Edelfosine | Selective PI-PLC inhibitor, also PAF receptor agonist | 77286-66-9 |
m-3M3FBS | Phospholipase C activator | 200933-14-8 |
o-3M3FBS | Inactive analog of m-3M3FBS (Cat. No. 1941) | 313981-55-4 |
U 73122 | Phospholipase C inhibitor | 112648-68-7 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PLA2G4E 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PLA2G4E 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PLA2G4E 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pla2g4e 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pla2g4e 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | PLA2G4E 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOC423226 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pla2g4d 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714593 | Benign: not provided | 42,013,699(-) | C/T | MISSENSE_VARIANT | |
714594 | Benign: not provided | 42,050,517(-) | A/G | INTRON_VARIANT | |
776876 | Benign: not provided | 41,999,977(-) | C/G | MISSENSE_VARIANT | |
776877 | Benign: not provided | 42,001,193(-) | G/A | MISSENSE_VARIANT | |
777441 | Benign: not provided | 41,984,605(-) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital disorder of glycosylation, type iic |
|
|
cerebral creatine deficiency syndrome 3 |
|
|
cerebral creatine deficiency syndrome |
|
|