Gene Gene information from NCBI Gene database.
Entrez ID 81539
Gene name Solute carrier family 38 member 1
Gene symbol SLC38A1
Synonyms (NCBI Gene)
ATA1NAT2SAT1SNAT1
Chromosome 12
Chromosome location 12q13.11
Summary Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of am
miRNA miRNA information provided by mirtarbase database.
2366
miRTarBase ID miRNA Experiments Reference
MIRT005141 hsa-miR-30a-5p pSILAC 18668040
MIRT001414 hsa-miR-16-5p pSILAC 18668040
MIRT024213 hsa-miR-218-5p Sequencing 20371350
MIRT005141 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT001414 hsa-miR-16-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
65
GO ID Ontology Definition Evidence Reference
GO:0001504 Process Neurotransmitter uptake TAS
GO:0003333 Process Amino acid transmembrane transport IBA
GO:0005283 Function Amino acid:sodium symporter activity IEA
GO:0005283 Function Amino acid:sodium symporter activity ISS
GO:0005283 Function Amino acid:sodium symporter activity NAS 10891391
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608490 13447 ENSG00000111371
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H2H9
Protein name Sodium-coupled neutral amino acid symporter 1 (Amino acid transporter A1) (N-system amino acid transporter 2) (Solute carrier family 38 member 1) (System A amino acid transporter 1) (System N amino acid transporter 1)
Protein function Symporter that cotransports short-chain neutral amino acids and sodium ions from the extraccellular to the intracellular side of the cell membrane (PubMed:10891391, PubMed:20599747). The transport is elctrogenic, pH dependent and driven by the N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01490 Aa_trans 69 475 Transmembrane amino acid transporter protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the cerebral cortex by pyramidal and GABAergic neurons, astrocytes and other non-neuronal cells (at protein level). Expressed in placenta, heart, lung, skeletal muscle, spleen, stomach and testis (PubMed:10891391, PubMed:1
Sequence
Sequence length 487
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glutamatergic synapse
GABAergic synapse
  Astrocytic Glutamate-Glutamine Uptake And Metabolism
Amino acid transport across the plasma membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 30278484
★☆☆☆☆
Found in Text Mining only
Acrania Acrania CTD_human_DG 20641098
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 30896661, 31773677
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10868688, 10953966, 29214875, 31773677
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10585581, 11266080, 11285205, 17711504
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 24595082
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 10585581
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11285205, 18706736, 27294516
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10192399, 11875368, 14618622, 15090717, 16981843, 22628494, 8895478, 9682272, 9950242
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 14618622
★☆☆☆☆
Found in Text Mining only