SPTLC1 Gene Summary [Human]
This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | SPTLC1 |
| Official Name | serine palmitoyltransferase long chain base subunit 1 [Source:HGNC Symbol;Acc:HGNC:11277] |
| Ensembl ID | ENSG00000090054 |
| 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 | 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 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 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
- 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 human 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