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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:612792 Ensembl IDEnsembl:ENSG00000156471 HGNC IDHGNC:HGNC:9587 PHARMGKB IDPA33939 Map Location8q22.1 |
GO terms in PTDSS1
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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 |
Gene expression in normal tissue: PTDSS1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PTDSS1
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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 |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD134 | Sorafenib | 1 |
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in PTDSS1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |