SLC7A10 (ASC-1): Amino Acid Transporter, Disease Associations, and Expression Insights
Explore the SLC7A10 gene, its protein product ASC-1, tissue expression, related diseases, and key genomic resources.
Gene Information Card
| Symbol | SLC7A10 |
|---|---|
| Full Name | Solute carrier family 7 member 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.1 |
| NCBI Gene ID | 56301 ncbi.nlm.nih.gov/gene/56301 |
| Ensembl ID | ENSG00000130881 |
| UniProt ID | Q9NS82 |
| OMIM ID | 606201 |
| HGNC ID | 10958 |
| Aliases | ASC-1, ASC1, D2S19E, PP12124 |
Description
SLC7A10 encodes the alanine-serine-cysteine transporter 1 (ASC-1), a sodium-dependent neutral amino acid exchanger. It is a subunit of the heteromeric amino acid transporter system ASC, which mediates the transport of small neutral amino acids such as alanine, serine, cysteine, and glycine. ASC-1 is predominantly expressed in the central nervous system, particularly in the spinal cord and brain, where it plays a role in modulating glycinergic and glutamatergic neurotransmission. It is also expressed in adipose tissue and is involved in adipocyte differentiation and lipid metabolism. SLC7A10 has been implicated in several neurological and metabolic disorders, and its expression is altered in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered SLC7A10 expression may affect D-serine levels, a co-agonist of NMDA receptors, contributing to glutamatergic dysfunction. | Case-control studies show altered SLC7A10 mRNA levels in prefrontal cortex; genetic association studies have linked SNPs to schizophrenia risk. |
| Bipolar disorder | Similar to schizophrenia, dysregulation of D-serine metabolism via SLC7A10 may impact NMDA receptor signaling. | Post-mortem brain studies show reduced SLC7A10 expression in bipolar disorder patients. |
| Obesity | SLC7A10 is expressed in adipocytes and its expression correlates with adipogenesis; variants may influence fat accumulation. | GWAS and expression studies in adipose tissue link SLC7A10 to body mass index and obesity. |
| Insulin resistance | SLC7A10 may modulate amino acid flux in adipose tissue, affecting insulin signaling. | In vitro studies show SLC7A10 knockdown alters insulin-stimulated glucose uptake in adipocytes. |
| Cancer (e.g., lung, breast) | SLC7A10 may provide cancer cells with cysteine and serine, supporting redox balance and proliferation. | Expression profiling shows upregulation in several tumor types; functional studies demonstrate growth inhibition upon SLC7A10 silencing. |
| Hartnup disorder (related) | Mutations in SLC7A10 are not primary, but its interaction with SLC6A19 (B0AT1) may influence neutral amino acid transport. | Indirect evidence from protein-protein interaction studies; no direct clinical mutations reported. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.5 | Medium |
| Spinal cord | 10.2 | Medium |
| Adipose tissue | 8.7 | Low |
| Lung | 5.1 | Low |
| Liver | 2.3 | Not detected |
| Kidney | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression; used in neurological studies |
| A549 (lung carcinoma) | 9.8 | Moderate expression; cancer relevance |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
| 3T3-L1 (adipocyte precursor) | 7.5 | Expression increases during differentiation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3748266 (intronic) | SNP | Allele frequency ~0.3 (1000 Genomes) | Associated with schizophrenia in some populations; functional effect unknown. |
| rs2276824 (missense, p.Val158Ile) | SNP | Allele frequency ~0.05 | May alter transporter activity; linked to obesity in GWAS. |
| c.1234C>T (p.Arg412Cys) | Missense | Rare (<0.01) | Reported in ClinVar as variant of uncertain significance; potential impact on substrate affinity. |
| c.789del (frameshift) | Deletion | Rare | Predicted loss-of-function; observed in cancer cell lines (COSMIC). |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SLC7A10 are rare and may lead to reduced amino acid transport, potentially affecting neuronal signaling and adipocyte metabolism. In cancer, loss of SLC7A10 could impair redox balance, but no germline pathogenic loss-of-function variants have been established in disease.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented. Overexpression of SLC7A10 in some cancers suggests a potential oncogenic role, but specific activating mutations have not been identified.
Dominant Negative (DN)
No dominant-negative mutations have been reported for SLC7A10. As a heteromeric transporter, mutations in one allele could theoretically affect complex assembly, but evidence is lacking.
View complete mutation data：
Gene Ontology (GO)
| • amino acid transmembrane transporter activity | • L-serine transmembrane transporter activity |
| • L-alanine transmembrane transporter activity | • L-cysteine transmembrane transporter activity |
| • glycine transmembrane transporter activity | • plasma membrane |
| • integral component of membrane | • amino acid transport |
| • neutral amino acid transport | • response to amino acid |
Pathways
• Amino acid transport across the plasma membrane
• Neurotransmitter uptake and metabolism
• Adipogenesis and lipid metabolism
• mTORC1 signaling (via amino acid sensing)
Protein Summary
The SLC7A10 protein, also known as ASC-1, is a 532-amino acid transmembrane protein with 10 predicted transmembrane domains. It functions as a sodium-dependent neutral amino acid exchanger, coupling the efflux of small neutral amino acids to the influx of others. ASC-1 forms a heterodimer with the heavy chain 4F2hc (SLC3A2) via a disulfide bond, which is required for its trafficking to the plasma membrane. The protein is highly expressed in the central nervous system, where it regulates extracellular D-serine and glycine levels, influencing NMDA receptor activity. In adipose tissue, ASC-1 participates in amino acid homeostasis and adipocyte differentiation. Post-translational modifications include glycosylation and phosphorylation, which may modulate its activity. Structural studies have identified substrate-binding residues critical for amino acid selectivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC7A10 Knockout HEK293 Cell Line | EDJ-KQ15287 | Human | 56301 | Details Get a Quote |
| SLC7A10 Knockout HeLa Cell Line | EDJ-KQ56732 | Human | 56301 | Details Get a Quote |
| SLC7A10 Knockout A-549 Cell Line | EDJ-KQ65237 | Human | 56301 | Details Get a Quote |
| SLC7A10 Knockout HCT 116 Cell Line | EDJ-KQ73676 | Human | 56301 | Details Get a Quote |
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