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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC38A1
solute carrier family 38 member 1
Chromosome 12 · 12q13.11
NCBI Gene: 81539Ensembl: ENSG00000111371.16HGNC: HGNC:13447UniProt: F8VX04
86PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneprotein bindingextracellular exosomeL-amino acid transmembrane transporter activityneurodegenerative diseasefacial nerve diseasevestibular neuronitisalcohol drinking
✦AI Summary

SLC38A1 encodes a sodium-coupled neutral amino acid transporter that primarily facilitates the uptake of glutamine and other short-chain neutral amino acids across cell membranes 1. The transporter operates through an electrogenic, pH-dependent mechanism driven by sodium electrochemical gradients 1. SLC38A1 plays critical roles in cellular metabolism, particularly in supporting glutamine-dependent processes including mTOR signaling activation and cellular proliferation 23. In cancer contexts, SLC38A1 is frequently overexpressed and promotes tumor progression through enhanced amino acid metabolism. Studies demonstrate its oncogenic role in colorectal cancer, where overexpression correlates with advanced TNM staging and promotes cell proliferation and migration 4. In hepatocellular carcinoma, SLC38A1 protein stability is maintained through deubiquitination by OTUD5, contributing to tumor growth 1. The transporter also shows prognostic significance in breast cancer, where high expression associates with poor patient outcomes 5. Beyond cancer, SLC38A1 regulates immune cell function, as cancer-derived factors can disrupt its expression in CD8+ T cells, leading to metabolic dysfunction and T cell exhaustion 6. Additionally, SLC38A1 contributes to placental trophoblast function and retinal pigment epithelial cell migration 23.

Sources cited
1
SLC38A1 is a sodium-coupled neutral amino acid transporter that facilitates glutamine uptake and is stabilized by OTUD5 deubiquitination in hepatocellular carcinoma
PMID: 38658981
2
SLC38A1 supports mTOR signaling activation and is regulated by miR-373-3p in trophoblast cells
PMID: 35837487
3
SLC38A1 mediates glutamine metabolism and promotes retinal pigment epithelial cell viability and migration
PMID: 40358757
4
SLC38A1 is overexpressed in colorectal cancer, correlates with TNM staging, and promotes cell proliferation and migration
PMID: 28224429
5
High SLC38A1 expression associates with poor prognosis in breast cancer patients
PMID: 39695419
6
Cancer-mediated disruption of SLC38A1 expression in CD8+ T cells contributes to T cell exhaustion and metabolic dysfunction
PMID: 39754718
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.38Weak
facial nerve diseaseOpen Targets
0.30Weak
vestibular neuronitisOpen Targets
0.24Weak
alcohol drinkingOpen Targets
0.15Weak
Abnormality of the skeletal systemOpen Targets
0.13Weak
type 1 diabetes mellitusOpen Targets
0.12Weak
breast cancerOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
tooth diseaseOpen Targets
0.09Suggestive
melanomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
hair colorOpen Targets
0.07Suggestive
uterine fibroidOpen Targets
0.06Suggestive
gastric cancerOpen Targets
0.06Suggestive
Uterine leiomyomaOpen Targets
0.05Suggestive
cervical cancerOpen Targets
0.05Suggestive
vein disorderOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PBX2Protein interaction91%SCN11AProtein interaction91%AANATProtein interaction70%SLC1A5Protein interaction66%SLC7A5Protein interaction63%SLC38A2Protein interaction57%
Tissue Expression6 tissues
Brain
100%
Heart
79%
Lung
22%
Bone Marrow
18%
Ovary
11%
Liver
7%
Gene Interaction Network
Click a node to explore
SLC38A1PBX2SCN11AAANATSLC1A5SLC7A5SLC38A2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9H2H9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.52Moderately Constrained
pLIⓘ
0.97Intolerant
Observed/Expected LoF0.29 [0.17–0.52]
RankingsWhere SLC38A1 stands among ~20K protein-coding genes
  • #5,574of 20,598
    Most Researched86
  • #3,191of 17,882
    Most Constrained (LOEUF)0.52 · top quartile
Genes detectedSLC38A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic overlap between breast cancer and sarcopenia: exploring the prognostic implications of SLC38A1 gene expression.
PMID: 39695419
BMC Cancer · 2024
1.00
2
SLC38A1 promotes proliferation and migration of human colorectal cancer cells.
PMID: 28224429
J Huazhong Univ Sci Technolog Med Sci · 2017
0.90
3
miR-373-3p Regulates the Proliferative and Migratory Properties of Human HTR8 Cells via SLC38A1 Modulation.
PMID: 35837487
Dis Markers · 2022
0.80
4
OTUD5 promotes the growth of hepatocellular carcinoma by deubiquitinating and stabilizing SLC38A1.
PMID: 38658981
Biol Direct · 2024
0.70
5
Complement C5a promotes human retinal pigment epithelial cell viability and migration through SLC38A1-mediated glutamine metabolism.
PMID: 40358757
Med Microbiol Immunol · 2025
0.60