PTDSS1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| phosphatidylserine synthase 1 | MIM:612792 | Ensembl:ENSG00000156471 | HGNC:HGNC:9587 | PA33939 | 8q22.1 |
GO terms in PTDSS1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | ISS | GO:0005789 | endoplasmic reticulum membrane |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | HDA | GO:0016020 | membrane |
| CC | ISS | GO:0016020 | membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| BP | IEA | GO:0006659 | phosphatidylserine biosynthetic process |
| BP | TAS | GO:0006659 | phosphatidylserine biosynthetic process |
| MF | TAS | GO:0016740 | transferase activity |
Gene expression in normal tissue: PTDSS1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PTDSS1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| smpdb | SMP00025 | Phospholipid Biosynthesis |
| wikipathways | WP3933 | Kennedy pathway from Sphingolipids |
| humancyc | PWY-7501 | phosphatidylserine biosynthesis I |
| kegg | hsa00564 | Glycerophospholipid metabolism - Homo sapiens (human) |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1483101 | Synthesis of PS |
| reactome | R-HSA-1483206 | Glycerophospholipid biosynthesis |
| reactome | R-HSA-1483257 | Phospholipid metabolism |
| reactome | R-HSA-556833 | Metabolism of lipids |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PTDSS1
CLASSFICATION
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