HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC7A3
solute carrier family 7 member 3
Chromosome X · Xq13.1
NCBI Gene: 84889Ensembl: ENSG00000165349.13HGNC: HGNC:11061UniProt: Q8WY07
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
L-ornithine transmembrane transporter activityL-lysine import across plasma membraneL-ornithine import across plasma membraneprotein bindingneurodegenerative diseaseuterine fibroidAbnormality of refractionprostate carcinoma
✦AI Summary

SLC7A3 encodes CAT-3 (cationic amino acid transporter 3), a plasma membrane transporter that mediates sodium-independent uptake of cationic L-amino acids including L-arginine, L-lysine, and L-ornithine through passive diffusion 1. The protein functions as a uniporter with moderately trans-stimulated transport activity and shows selective brain expression 23. SLC7A3 plays critical roles in cellular arginine metabolism, with its upregulation enabling cells to overcome arginine and lysine limitations by increasing uptake rates 4. The transporter exhibits context-dependent effects in cancer: while SLC7A3-mediated arginine uptake promotes osteosarcoma metastasis through SP1 stabilization pathways 5, increased SLC7A3 expression inhibits breast cancer cell proliferation and predicts favorable prognosis 6. Disease relevance includes associations with neurodevelopmental disorders, as hypomorphic SLC7A3 variants have been identified in males with autism spectrum disorders, causing severe transport defects due to altered protein stability or trafficking 2. Additionally, SLC7A3 variants represent potential causes of childhood epilepsy and developmental delay 7. The gene also functions in embryonic stem cell self-renewal, with SLC7A3 downregulation occurring during differentiation 8. These findings establish SLC7A3 as a critical regulator of cationic amino acid homeostasis with significant implications for neurological function and cancer biology.

Sources cited
1
SLC7A3 mediates sodium-independent uptake of cationic amino acids through passive diffusion and shows slower arginine import compared to other CAT transporters
PMID: 26555760
2
SLC7A3 shows selective brain expression and hypomorphic variants cause autism spectrum disorders in males
PMID: 26215737
3
SLC7A3 encodes CAT-3 transporter that mediates both uptake and efflux of cationic amino acids
PMID: 17417706
4
SLC7A3 upregulation overcomes arginine and lysine limitations by increasing uptake rates
PMID: 36114003
5
SLC7A3-mediated arginine uptake promotes osteosarcoma metastasis through SP1 stabilization pathways
PMID: 37769797
6
Increased SLC7A3 expression inhibits breast cancer cell proliferation and predicts favorable prognosis
PMID: 38204267
7
SLC7A3 variants represent potential causes of childhood epilepsy and developmental delay
PMID: 34872132
8
SLC7A3 is downregulated during embryonic stem cell differentiation and functions in self-renewal
PMID: 24519983
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
uterine fibroidOpen Targets
0.34Weak
Abnormality of refractionOpen Targets
0.29Weak
prostate carcinomaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.06Suggestive
gliomaOpen Targets
0.05Suggestive
glioblastomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
papillary thyroid carcinomaOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
pneumoniaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
autism spectrum disorderOpen Targets
0.01Suggestive
autismOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.01Suggestive
gastric carcinomaOpen Targets
0.01Suggestive
medulloblastomaOpen Targets
0.01Suggestive
brain neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC7A13Protein interaction76%SLC7A2Shared pathway75%SLC7A1Shared pathway60%SLC25A29Shared pathway43%SLC7A7Shared pathway33%SLC66A1Shared pathway29%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
15%
Ovary
15%
Lung
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
SLC7A3SLC7A13SLC7A2SLC7A1SLC25A29SLC7A7SLC66A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WY07
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.09 [0.04–0.23]
RankingsWhere SLC7A3 stands among ~20K protein-coding genes
  • #13,309of 20,598
    Most Researched24
  • #651of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedSLC7A3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SIRPA enhances osteosarcoma metastasis by stabilizing SP1 and promoting SLC7A3-mediated arginine uptake.
PMID: 37769797
Cancer Lett · 2023
1.00
2
Real-time functional characterization of cationic amino acid transporters using a new FRET sensor.
PMID: 26555760
Pflugers Arch · 2016
0.90
3
SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy.
PMID: 34872132
Neuropediatrics · 2022
0.80
4
Discovery of consensus gene signature and intermodular connectivity defining self-renewal of human embryonic stem cells.
PMID: 24519983
Stem Cells · 2014
0.70
5
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
PMID: 26215737
Amino Acids · 2015
0.60