SPTLC3 Gene Summary [Human]
This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq, Mar 2017]
Details
| Type | Processed Transcript |
| Official Symbol | SPTLC3 |
| Official Name | serine palmitoyltransferase long chain base subunit 3 [Source:HGNC Symbol;Acc:HGNC:16253] |
| Ensembl ID | ENSG00000172296 |
| Bio databases IDs | |
| Aliases | serine palmitoyltransferase long chain base subunit 3 |
| Synonyms | C130053K05Rik, C20ORF38, dJ718P11, dJ718P11.1, hLCB2b, LCB2B, LCB 3, RGD1310030, serine palmitoyltransferase long chain base subunit 3, serine palmitoyltransferase, long chain base subunit 3, SPT 3, SPTLC2L |
| 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 SPTLC3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Aminotransferase class-V
- 5-aminolevulinic acid synthase
- serine C-palmitoyltransferase
- AAT_I
- Beta-eliminating lyase
- enzyme
- protein binding
- Aminotransferase class I and II
Pathways
Biological processes and signaling networks where the SPTLC3 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
- cerebral amyloid angiopathy
regulates
- L-serine
- myristoyl-coenzyme A
- C16 3-ketodihydrosphingosine
- sphingoid base
- C16-sphinganine
- sphingolipid
- C16-sphingosine
- palmitoyl-coenzyme A
- 3-ketodihydrosphingosine
role in cell
- formation 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 membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPTLC3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sphingoid biosynthetic process
- sphingosine biosynthetic process
- ceramide biosynthetic process
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- serine C-palmitoyltransferase complex
Molecular Function
What the gene product does at the molecular level
- pyridoxal phosphate binding
- protein binding
- serine C-palmitoyltransferase activity