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SLC1A4
solute carrier family 1 member 4
SLC1A4 is located on the short (p) arm of chromosome 2, at band 2p14. Arm ratio per GRCh38 - banding schematic.
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Overview
SLC1A4 encodes alanine-serine-cysteine transporter 1 (ASCT1), a sodium-dependent transporter protein that moves neutral amino acids across cell membranes. The protein functions as part of the solute carrier family, which comprises membrane-spanning proteins responsible for transporting diverse molecules into and out of cells.
Amino acid transporters like ASCT1 maintain intracellular amino acid pools that support protein synthesis, cellular metabolism, and signalling pathways. The transporter operates by coupling amino acid influx to sodium gradients across the plasma membrane, enabling cells to accumulate these building blocks against concentration gradients.
What the gene does
The ASCT1 protein facilitates the transport of small neutral amino acids including alanine, serine, cysteine, and threonine across the plasma membrane. This transport process is sodium-dependent, meaning the protein harnesses the electrochemical gradient of sodium ions to drive amino acid uptake into cells.
ASCT1 operates as an exchanger, typically releasing one amino acid molecule while importing another, which allows cells to regulate their intracellular amino acid composition. The transporter is expressed in multiple tissues including the lung, brain, skeletal muscle, and kidney, suggesting roles in tissue-specific amino acid homeostasis.
By controlling the availability of neutral amino acids within cells, ASCT1 indirectly influences protein synthesis, cellular growth, and metabolic pathways that depend on these substrates. Research suggests the transporter may also participate in maintaining glutathione synthesis by supplying cysteine, a precursor for this important antioxidant molecule.
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Chromosome location
SLC1A4 is located on the short arm of chromosome 2 at position 2p14. This chromosomal region contains multiple genes involved in metabolic and transport functions. The precise exon count and detailed gene structure have not been extensively documented in public databases for this particular transporter gene.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Genetic variants in SLC1A4 have been identified through population sequencing studies, though the clinical significance of most changes remains uncertain. The gene exhibits typical patterns of human genetic variation, with both common polymorphisms present in the general population and rare variants observed in smaller numbers of individuals.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.1369C>T | p.Arg457Trp | Pathogenic/Likely pathogenic | ★★☆☆ | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
c.766G>A | p.Glu256Lys | Pathogenic | ★★☆☆ | SLC1A4-related disorder |
c.964C>T | p.Arg322Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
g.(?_65216778)_(65248280_?)del | - | Pathogenic | ★☆☆☆ | not provided |
c.1364+1G>T | - | Pathogenic | ★☆☆☆ | not provided |
c.234_237dup | p.Glu80fs | Pathogenic | ★☆☆☆ | not provided |
c.404T>A | p.Leu135Ter | Pathogenic | ★☆☆☆ | not provided |
c.913del | p.His305fs | Pathogenic | ★☆☆☆ | not provided |
c.951_954del | p.Ile316_Tyr317insTer | Pathogenic | ★☆☆☆ | not provided |
c.971dup | p.Asn324fs | Pathogenic | ★☆☆☆ | not provided |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
SLC1A4 is not currently recognised as a gene definitively linked to specific inherited disease conditions in clinical genetics databases. The physiological role of ASCT1 in amino acid transport suggests that severe loss of function could theoretically affect cellular metabolism, though such associations have not been established in human populations. Research into solute carrier family members continues to explore potential roles in complex traits and metabolic phenotypes.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the SLC1A4 gene do?
SLC1A4 encodes a sodium-dependent transporter protein that moves small neutral amino acids such as alanine, serine, and cysteine into cells. This transport function helps maintain the amino acid pools cells need for protein synthesis and metabolism.
Where is SLC1A4 expressed in the body?
The ASCT1 transporter encoded by SLC1A4 is expressed in multiple tissues including the lung, brain, skeletal muscle, and kidney. This broad expression pattern reflects the universal cellular requirement for neutral amino acid uptake.
Are genetic variants in SLC1A4 linked to disease?
Currently, SLC1A4 variants are not definitively associated with specific inherited conditions in clinical genetics practice. While genetic variation exists within the gene, the relationship between these variants and human health outcomes remains an area of ongoing research.