SLC1A4: Solute Carrier Family 1 Member 4
A key neutral amino acid transporter linked to neurodevelopmental disorders and cancer metabolism
Gene Information Card
| Symbol | SLC1A4 |
|---|---|
| Full Name | Solute Carrier Family 1 Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p14 |
| NCBI Gene ID | 6509 ncbi.nlm.nih.gov/gene/6509 |
| Ensembl ID | ENSG00000115902 |
| UniProt ID | P43007 |
| OMIM ID | 600229 |
| HGNC ID | 10942 |
| Aliases | ASCT1, SATT, SPATCCM |
Description
SLC1A4 encodes the sodium-dependent neutral amino acid transporter ASCT1, which mediates the uptake of L-serine, L-alanine, L-cysteine, and L-threonine. It is essential for brain serine homeostasis and neurodevelopment. Mutations cause SPATCCM (spastic tetraplegia, thin corpus callosum, and progressive microcephaly).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) | Loss-of-function mutations impair serine transport, leading to reduced brain serine levels and defective myelination | OMIM #616657; multiple missense and nonsense variants reported |
| Gastric cancer | Overexpression of SLC1A4 supports serine uptake for nucleotide synthesis and tumor growth | PubMed studies; TCGA expression data |
| Colorectal cancer | Upregulation linked to increased serine dependence and poor prognosis | COSMIC; expression profiling |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | High |
| Spinal cord | 8.7 | Medium |
| Liver | 4.1 | Low |
| Kidney | 3.5 | Low |
| Small intestine | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HeLa (cervical) | 6.8 | Moderate |
| HepG2 (liver) | 3.1 | Low |
| MCF7 (breast) | 5.4 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.26C>T (p.Ala9Val) | Missense | Rare | Reduced serine transport; associated with SPATCCM |
| c.550G>A (p.Gly184Arg) | Missense | Rare | Loss of function; SPATCCM |
| c.1132C>T (p.Arg378Trp) | Missense | Rare | Impaired trafficking; SPATCCM |
| c.1343G>A (p.Arg448His) | Missense | Rare | Decreased transport activity; SPATCCM |
Mutation functional classification
Loss of Function (LOF)
Most SPATCCM-associated missense and nonsense mutations reduce or abolish serine transport activity.
Gain of Function (GOF)
Not reported for SLC1A4.
Dominant Negative (DN)
Not established; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • neutral amino acid:sodium symporter activity (GO:0005283) | • neutral amino acid transmembrane transporter activity (GO:0015175) |
| • L-serine transport (GO:0015810) | • L-alanine transport (GO:0015816) |
| • integral component of plasma membrane (GO:0005887) | • integral component of membrane (GO:0016021) |
Pathways
• Transport of inorganic cations/anions and amino acids/oligopeptides (Reactome: R-HSA-425393)
• Amino acid transport across the plasma membrane (Reactome: R-HSA-352230)
Protein Summary
ASCT1 is a 532-amino acid multipass transmembrane protein that functions as a sodium-dependent neutral amino acid exchanger. It is highly expressed in the brain, where it supplies serine for neuronal survival and myelination. The protein contains 10 transmembrane domains and a C-terminal PDZ-binding motif.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC1A4 Knockout HEK293 Cell Line | EDJ-KQ2483 | Human | 6509 | Details Get a Quote |
| SLC1A4 Knockout HCT 116 Cell Line | EDJ-KQ23060 | Human | 6509 | Details Get a Quote |
| SLC1A4 Knockout HeLa Cell Line | EDJ-KQ23061 | Human | 6509 | Details Get a Quote |
| SLC1A4 Knockout A-549 Cell Line | EDJ-KQ21699 | Human | 6509 | Details Get a Quote |
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