SLC7A4 (solute carrier family 7 member 4)
SLC7A4, also known as solute carrier family 7 member 4, encodes a sodium-dependent cationic amino acid transporter (CAT-4) that belongs to the SLC7 gene family, a group of proteins primarily responsible for the transmembrane transport of neutral and cationic amino acids. As a typical member of this family, SLC7A4 functions as a heavy chain that heterodimerizes with a light chain partner, such as SLC3A2, to form a functional transport complex capable of mediating the uptake of substrates like arginine and lysine. The protein is predicted to possess twelve transmembrane domains and exhibits a tissue-specific expression profile, with high levels detected in the placenta, testis, and brain, suggesting critical roles in reproductive physiology, neurotransmission, and immune regulation. By facilitating the cellular influx of cationic amino acids, SLC7A4 likely influences downstream signaling pathways, including the mechanistic target of rapamycin (mTOR) pathway, which is pivotal for cell growth and proliferation. Although direct pathogenic links to SLC7A4 mutations remain uncharacterized, functional loss in this gene could compromise amino acid supply in vital tissues such as the placenta, potentially leading to developmental abnormalities, while overexpression might disrupt intracellular amino acid homeostasis. The broader SLC7 family is associated with metabolic disorders such as cystinuria and lysinuric protein intolerance, highlighting the importance of precise amino acid transport regulation; consequently, further investigation into SLC7A4 is warranted to elucidate its specific contributions to pregnancy maintenance and neural function.
Gene Ontology
Subcellular localization of SLC7A4 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for SLC7A4:
| Disease | Score | NofPmids | NofSnps | Source |
| Chronic Lymphocytic Leukemia | 0.016286512 | 60 | 0 | BeFree |
| Lymphoma | 0.005157396 | 19 | 0 | BeFree |
| Mucosa-Associated Lymphoid Tissue Lymphoma | 0.004071628 | 15 | 0 | BeFree |
| Multiple Myeloma | 0.003800186 | 14 | 0 | BeFree |
| Rheumatoid Arthritis | 0.002985861 | 11 | 0 | BeFree |
| Diffuse Large B-Cell Lymphoma | 0.002985861 | 11 | 0 | BeFree |
| Lymphoma, Follicular | 0.002714419 | 10 | 0 | BeFree |
| HIV Infections | 0.002714419 | 10 | 0 | BeFree |
| Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 0.002442977 | 9 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.002171535 | 8 | 0 | BeFree |
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