Sptlc1 Gene Summary [Mouse]
Enables serine C-palmitoyltransferase activity. Involved in regulation of fat cell apoptotic process and sphingomyelin biosynthetic process. Acts upstream of or within ceramide biosynthetic process; sphinganine biosynthetic process; and sphingosine biosynthetic process. Located in endoplasmic reticulum membrane. Is expressed in brain; epidermis; and liver. Human ortholog(s) of this gene implicated in hereditary sensory and autonomic neuropathy type 1A and juvenile amyotrophic lateral sclerosis type 27. Orthologous to human SPTLC1 (serine palmitoyltransferase long chain base subunit 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Sptlc1 |
| Official Name | serine palmitoyltransferase, long chain base subunit 1 [Source:MGI Symbol;Acc:MGI:1099431] |
| Ensembl ID | ENSMUSG00000021468 |
| Bio databases IDs | |
| Aliases | serine palmitoyltransferase, long chain base subunit 1 |
| Synonyms | ALS27, C77762, E030036H05, HSAN1, HSN1, LBC1, LCB 1, RGD1306617, serine palmitoyltransferase long chain base subunit 1, serine palmitoyltransferase, long chain base subunit 1, SPT 1, SPTI |
| Species | Mouse, Mus musculus |
| 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 mouse Sptlc1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- serine C-palmitoyltransferase
- AAT_I
- enzyme
- protein binding
- Aminotransferase class I and II
- PDZ binding motif
Pathways
Biological processes and signaling networks where the Sptlc1 gene in mouse 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
- obesity
- juvenile amyotrophic lateral sclerosis type 27
- nonfamilial Alzheimer disease
- glaucoma
- hereditary sensory neuropathy type IA
- allergic rhinitis
- hereditary sensory neuropathy type I
- hereditary disorder
- severe hereditary sensory and autonomic neuropathy type IA
- Charcot-Marie-Tooth disease
role in cell
- cell death
- expression in
- synthesis in
- growth
- formation in
- accumulation in
- chemotaxis
- infiltration by
- colony formation by
- autophagy by
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
- microsomal fraction
- pH resistant lipid raft fraction
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Sptlc1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sphingosine biosynthetic process
- ceramide biosynthetic process
- sphinganine biosynthetic process
- sphingomyelin biosynthetic process
- sphingolipid metabolic 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
- pyridoxal phosphate binding
- protein binding
- serine C-palmitoyltransferase activity