phosphatidylserine synthase 1
Symbol
PTDSS1
(may also be known as: None)
Organism
Human
Description
The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
Orthologs
| Symbol | Species | |
|---|---|---|
| pssy-2 | Caenorhabditis elegans | |
| CG4825 | Drosophila melanogaster | |
| si:ch211-153f2.6 | Danio rerio | |
| Ptdss1 | Mus musculus | |
| Ptdss1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category |
|---|---|---|
| GO:0006659 | phosphatidylserine biosynthetic process | biological_process |
| GO:0008654 | phospholipid biosynthetic process | biological_process |
| GO:0005789 | endoplasmic reticulum membrane | cellular_component |
| GO:0016020 | membrane | cellular_component |
| GO:0016021 | integral to membrane | cellular_component |
| GO:0016740 | transferase activity | molecular_function |