Gene Gene information from NCBI Gene database.
Entrez ID 6512
Gene name Solute carrier family 1 member 7
Gene symbol SLC1A7
Synonyms (NCBI Gene)
AAATEAAT5
Chromosome 1
Chromosome location 1p32.3
miRNA miRNA information provided by mirtarbase database.
48
miRTarBase ID miRNA Experiments Reference
MIRT528527 hsa-miR-6501-3p PAR-CLIP 22012620
MIRT528526 hsa-miR-6736-3p PAR-CLIP 22012620
MIRT528525 hsa-miR-4793-5p PAR-CLIP 22012620
MIRT528524 hsa-miR-221-5p PAR-CLIP 22012620
MIRT528523 hsa-miR-8073 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0001504 Process Neurotransmitter uptake IDA 9108121
GO:0001504 Process Neurotransmitter uptake IMP 9108121
GO:0001504 Process Neurotransmitter uptake NAS 9108121
GO:0005313 Function L-glutamate transmembrane transporter activity IBA
GO:0005313 Function L-glutamate transmembrane transporter activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604471 10945 ENSG00000162383
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00341
Protein name Excitatory amino acid transporter 5 (Retinal glutamate transporter) (Solute carrier family 1 member 7)
Protein function Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one p
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00375 SDF 19 476 Sodium:dicarboxylate symporter family Family
Tissue specificity TISSUE SPECIFICITY: Expressed primarily in retina. Detectable in liver, heart, muscle and brain. {ECO:0000269|PubMed:9108121}.
Sequence
Sequence length 560
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Synaptic vesicle cycle
Glutamatergic synapse
  Glutamate Neurotransmitter Release Cycle
Transport of inorganic cations/anions and amino acids/oligopeptides
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Depressive Disorder Major Associate 31123248
★☆☆☆☆
Found in Text Mining only
Gaucher Disease Associate 33568133
★☆☆☆☆
Found in Text Mining only
Graves Disease Associate 36397361
★☆☆☆☆
Found in Text Mining only