SPTSSA Gene Summary [Human]
Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]
Details
| Type | Protein Coding |
| Official Symbol | SPTSSA |
| Official Name | serine palmitoyltransferase small subunit A [Source:HGNC Symbol;Acc:HGNC:20361] |
| Ensembl ID | ENSG00000165389 |
| Bio databases IDs | |
| Aliases | serine palmitoyltransferase small subunit A, small subunit of serine palmitoyltransferase A |
| Synonyms | 1110002B05Rik, C14orf147, MGC112883, serine palmitoyltransferase small subunit A, serine palmitoyltransferase, small subunit A, SPG90A, SPG90B, SSSPTA |
| 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 SPTSSA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Small subunit of serine palmitoyltransferase-like
- serine C-palmitoyltransferase
- enzyme
- protein binding
Pathways
Biological processes and signaling networks where the SPTSSA gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- androgenic alopecia
- autosomal recessive spastic paraplegia type 90B
- autosomal dominant spastic paraplegia type 90A
- psoriasis
role in cell
- expression in
- phagocytosis by
- autophagy by
- phagocytosis
- synthesis 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
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPTSSA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sphingosine biosynthetic process
- protein localization
- ceramide biosynthetic process
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
- serine C-palmitoyltransferase complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- serine C-palmitoyltransferase activity