Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10991
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 38 member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC38A3
Synonyms (NCBI Gene) Gene synonyms aliases
DEE102, G17, NAT1, SN1, SNAT3
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1363005 hsa-miR-143 CLIP-seq
MIRT1363006 hsa-miR-1915 CLIP-seq
MIRT1363007 hsa-miR-4685-5p CLIP-seq
MIRT1363008 hsa-miR-4770 CLIP-seq
MIRT2107651 hsa-miR-1275 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003333 Process Amino acid transmembrane transport IBA
GO:0005290 Function L-histidine transmembrane transporter activity IBA
GO:0005290 Function L-histidine transmembrane transporter activity IDA 10823827
GO:0005290 Function L-histidine transmembrane transporter activity IEA
GO:0005295 Function Neutral L-amino acid:sodium symporter activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604437 18044 ENSG00000188338
Protein
UniProt ID Q99624
Protein name Sodium-coupled neutral amino acid transporter 3 (N-system amino acid transporter 1) (Na(+)-coupled neutral amino acid transporter 3) (Solute carrier family 38 member 3) (System N amino acid transporter 1)
Protein function Symporter that cotransports specific neutral amino acids and sodium ions, coupled to an H(+) antiporter activity (PubMed:10823827). Mainly participates in the glutamate-GABA-glutamine cycle in brain where it transports L-glutamine from astrocyte
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01490 Aa_trans 64 491 Transmembrane amino acid transporter protein Family
Sequence
Sequence length 504
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glutamatergic synapse
GABAergic synapse
Proximal tubule bicarbonate reclamation
  Amino acid transport across the plasma membrane
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Epileptic encephalopathy developmental and epileptic encephalopathy 102 N/A N/A GenCC
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 34605855
Carcinoma Hepatocellular Associate 12381519
Diabetes Mellitus Type 2 Associate 36364703
Diabetic Angiopathies Associate 36364703
Diabetic Retinopathy Associate 36364703
Epilepsy Associate 34605855
Epileptic Encephalopathy Early Infantile 3 Associate 34605855
Intellectual Disability Associate 34605855
Neoplasms Inhibit 23811327, 25804888
Renal Insufficiency Chronic Associate 36364703