SPTLC2 Gene Summary [Human]
This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]
Details
| Type | Protein Coding |
| Official Symbol | SPTLC2 |
| Official Name | serine palmitoyltransferase long chain base subunit 2 [Source:HGNC Symbol;Acc:HGNC:11278] |
| Ensembl ID | ENSG00000100596 |
| Bio databases IDs | |
| Aliases | serine palmitoyltransferase long chain base subunit 2 |
| Synonyms | hLCB2a, HSN1C, LCB 2, LCB2A, NSAN1C, Pomt2, serine palmitoyltransferase long chain base subunit 2, serine palmitoyltransferase, long chain base subunit 2, SPT 2 |
| 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 SPTLC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 5-aminolevulinic acid synthase
- serine C-palmitoyltransferase
- AAT_I
- enzyme
- protein binding
- Aminotransferase class I and II
Pathways
Biological processes and signaling networks where the SPTLC2 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
- colorectal cancer
- hereditary sensory neuropathy type IC
- hereditary disorder
- hereditary sensory neuropathy type I
- acanthosis
- nonfamilial Alzheimer disease
- severe hereditary sensory neuropathy type IC
- insulin resistance
- Peyronie disease
- psoriasis
role in cell
- apoptosis
- synthesis in
- expression in
- cellular infiltration by
- accumulation in
- activation
- autophagy by
- ciliogenesis 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
- microsomal fraction
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPTLC2 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 biosynthetic process
- adipose tissue development
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
- serine C-palmitoyltransferase activity