SLC7A4: Cationic Amino Acid Transporter, Glycoprotein-Associated
A solute carrier family 7 member with roles in amino acid transport and potential links to neurological and metabolic disorders.
Gene Information Card
| Symbol | SLC7A4 |
|---|---|
| Full Name | Solute carrier family 7 member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 6545 ncbi.nlm.nih.gov/gene/6545 |
| Ensembl ID | ENSG00000100285 |
| UniProt ID | O43246 |
| OMIM ID | 603752 |
| HGNC ID | 11061 |
| Aliases | CAT-4, HCAT3 |
Description
SLC7A4 encodes a member of the solute carrier family 7, specifically a cationic amino acid transporter (CAT-4). This protein is predicted to transport basic amino acids such as arginine, lysine, and ornithine across cell membranes. Although its exact physiological role is not fully characterized, it is expressed in various tissues and may be involved in amino acid homeostasis, particularly in the brain and placenta. The gene is located on chromosome 22q11.21, a region associated with several genetic syndromes, suggesting potential clinical relevance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered expression of SLC7A4 in brain regions may affect neurotransmitter synthesis via arginine availability, but direct causal evidence is lacking. | Limited: expression studies in post-mortem brain tissue (PMID: 12427848) |
| Bipolar disorder | Similar to schizophrenia, changes in SLC7A4 expression could influence glutamatergic signaling through arginine metabolism. | Limited: expression studies (PMID: 12427848) |
| DiGeorge syndrome (22q11.2 deletion syndrome) | SLC7A4 is located within the typical 3 Mb deletion region; haploinsufficiency may contribute to some phenotypic features, but specific role is unclear. | Genomic location: OMIM #188400; no direct functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | Not available | Moderate (RNA-seq data from GTEx, as per NCBI) |
| Placenta | Not available | High (RNA-seq data from GTEx, as per NCBI) |
| Testis | Not available | Low (RNA-seq data from GTEx, as per NCBI) |
| Lung | Not available | Low (RNA-seq data from GTEx, as per NCBI) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Detected in some studies, but no quantitative data |
| SH-SY5Y | Not available | Detected in neuronal cell lines, but no quantitative data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2276824 | SNP (intronic) | Minor allele frequency ~0.2 (1000 Genomes) | No known functional effect |
| rs5751876 | SNP (intronic) | Minor allele frequency ~0.3 (1000 Genomes) | No known functional effect |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized in SLC7A4. Given its predicted transporter function, loss-of-function could impair amino acid uptake, but no clinical phenotype has been linked.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • amino acid transmembrane transporter activity | • cationic amino acid transmembrane transporter activity |
| • plasma membrane | • integral component of membrane |
| • amino acid transport | • cationic amino acid transport |
Pathways
• Amino acid transport across the plasma membrane
• Arginine and proline metabolism (indirectly via substrate transport)
Protein Summary
SLC7A4 encodes a 631-amino acid protein with 12 predicted transmembrane domains, characteristic of amino acid transporters. It belongs to the APC (amino acid-polyamine-organocation) superfamily. The protein is predicted to function as a sodium-independent transporter for cationic amino acids. Its expression in the brain and placenta suggests roles in neurodevelopment and nutrient transfer. However, functional studies are limited, and its substrate specificity and physiological significance remain to be fully elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC7A4 Knockout HEK293 Cell Line | EDJ-KQ5779 | Human | 6545 | Details Get a Quote |
| SLC7A4 Knockout HeLa Cell Line | EDJ-KQ54499 | Human | 6545 | Details Get a Quote |
| SLC7A4 Knockout A-549 Cell Line | EDJ-KQ62985 | Human | 6545 | Details Get a Quote |
| SLC7A4 Knockout HCT 116 Cell Line | EDJ-KQ71456 | Human | 6545 | Details Get a Quote |
