SPTLC3
Serine Palmitoyltransferase Long Chain Base Subunit 3
Gene Information Card
| Symbol | SPTLC3 |
|---|---|
| Full Name | Serine Palmitoyltransferase Long Chain Base Subunit 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p12.1 |
| NCBI Gene ID | 55304 ncbi.nlm.nih.gov/gene/55304 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9NUV7 |
| OMIM ID | 611729 |
| HGNC ID | 16267 |
| Aliases | hLCB3, SPT3, LCB3 |
Description
SPTLC3 encodes a subunit of serine palmitoyltransferase (SPT), the key enzyme in sphingolipid biosynthesis. SPT catalyzes the condensation of L-serine and palmitoyl-CoA to form 3-ketodihydrosphingosine. SPTLC3 is one of three long-chain base subunits (SPTLC1, SPTLC2, SPTLC3) and contributes to substrate specificity. Mutations in SPTLC3 are associated with hereditary sensory neuropathy type 1 (HSN1).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Sensory Neuropathy Type 1 (HSN1) | Missense mutations in SPTLC3 alter SPT substrate specificity, leading to accumulation of neurotoxic deoxysphingolipids. | ClinVar, OMIM |
| Neuropathy | Impaired sphingolipid metabolism due to SPTLC3 variants contributes to peripheral nerve degeneration. | PubMed, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Skin | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 7.5 | Neuroblastoma cell line |
| HEK293 | 11.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112A>G (p.Asn38Asp) | Missense | Rare | Alters SPT substrate specificity, associated with HSN1 |
| c.398C>T (p.Pro133Leu) | Missense | Rare | Reported in neuropathy patients |
Mutation functional classification
Loss of Function (LOF)
Not clearly established; most mutations are missense with altered substrate specificity.
Gain of Function (GOF)
Mutations may lead to gain of function by increasing deoxysphingolipid production.
Dominant Negative (DN)
Likely dominant-negative effect by disrupting SPT complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • serine C-palmitoyltransferase activity | • sphingolipid biosynthetic process |
| • endoplasmic reticulum membrane |
Pathways
• Sphingolipid metabolism (KEGG: hsa00600)
• De novo sphingolipid biosynthesis
Protein Summary
SPTLC3 is a 63 kDa protein that forms part of the serine palmitoyltransferase complex. It localizes to the endoplasmic reticulum and is involved in the first step of sphingolipid synthesis. The protein contains a pyridoxal phosphate-binding domain and is essential for enzyme activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPTLC3 Knockout HEK293 Cell Line | EDJ-KQ1731 | Human | 55304 | Details Get a Quote |
| SPTLC3 Knockout HeLa Cell Line | EDJ-KQ21575 | Human | 55304 | Details Get a Quote |
| SPTLC3 Knockout A-549 Cell Line | EDJ-KQ65072 | Human | 55304 | Details Get a Quote |
| SPTLC3 Knockout HCT 116 Cell Line | EDJ-KQ73516 | Human | 55304 | Details Get a Quote |
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