PTDSS1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PTDSS1 |
| Official Name | phosphatidylserine synthase 1 [Source:HGNC Symbol;Acc:HGNC:9587] |
| Ensembl ID | ENSG00000156471 |
| Bio databases IDs | |
| Aliases | phosphatidylserine synthase 1 |
| Synonyms | LMHD, mKIAA0024, phosphatidylserine synthase 1, PSS-1, PSSA |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PTDSS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- substituted phosphate group transferase
- transferase
- Phosphatidyl serine synthase
- enzyme
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- Lenz-Majewski hyperostotic dwarfism
- organismal death
- Huntington disease
- systemic autoimmune syndrome
- Alzheimer disease
- infection by HIV-1
regulates
- ether phosphatidylserine
- phosphatidylserine
- phospholipid
- SACM1L
- phosphatidylinositol 4-phosphate
role in cell
- synthesis in
- growth
- cellular infiltration by
- exposure in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- mitochondria-associated membranes
- neurites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PTDSS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phosphatidylserine biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
Molecular Function
What the gene product does at the molecular level
- transferase activity