Gene Gene information from NCBI Gene database.
Entrez ID 6510
Gene name Solute carrier family 1 member 5
Gene symbol SLC1A5
Synonyms (NCBI Gene)
AAATASCT2ATBOM7V1M7VS1R16RDRC
Chromosome 19
Chromosome location 19q13.32
Summary The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011]
miRNA miRNA information provided by mirtarbase database.
926
miRTarBase ID miRNA Experiments Reference
MIRT016308 hsa-miR-193b-3p Proteomics 21512034
MIRT020519 hsa-miR-155-5p Proteomics 18668040
MIRT021298 hsa-miR-125a-5p Sequencing 20371350
MIRT025224 hsa-miR-34a-5p Proteomics 21566225
MIRT025224 hsa-miR-34a-5p Proteomics 21566225
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0005515 Function Protein binding IPI 23492904, 25759021, 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 23492904, 24953180
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
109190 10943 ENSG00000105281
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15758
Protein name Neutral amino acid transporter B(0) (ATB(0)) (Baboon M7 virus receptor) (RD114/simian type D retrovirus receptor) (Sodium-dependent neutral amino acid transporter type 2) (Solute carrier family 1 member 5)
Protein function Sodium-coupled antiporter of neutral amino acids. In a tri-substrate transport cycle, exchanges neutral amino acids between the extracellular and intracellular compartments, coupled to the inward cotransport of at least one sodium ion (PubMed:17
PDB 5LLM , 5LLU , 5LM4 , 5MJU , 6GCT , 6MP6 , 6MPB , 6RVX , 6RVY , 7BCQ , 7BCS , 7BCT , 8OUD , 8OUH , 8OUJ , 8QRO , 8QRP , 8QRQ , 8QRR , 8QRS , 8QRU , 8QRV , 8QRW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00375 SDF 54 485 Sodium:dicarboxylate symporter family Family
Tissue specificity TISSUE SPECIFICITY: Placenta, lung, skeletal muscle, kidney, pancreas, and intestine (PubMed:8702519). Expressed in CD34-positive hematopoietic progenitors (at protein level) (PubMed:24953180). {ECO:0000269|PubMed:24953180, ECO:0000269|PubMed:8702519}.
Sequence
Sequence length 541
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein digestion and absorption
Central carbon metabolism in cancer
  Amino acid transport across the plasma membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Acute Kidney Injury Associate 35569444
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Associate 23213057, 24603303, 25337245, 31668020
★☆☆☆☆
Found in Text Mining only
Adenoma Associate 27447554
★☆☆☆☆
Found in Text Mining only
Bacterial Infections Associate 32772343
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 25683269, 29020998, 31819174, 34282517, 39519124
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 37997289
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Associate 35501667
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Associate 25053597
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 12381519, 14563674, 17329400, 25987094, 28036362, 30029480, 30103844, 35841206, 35908779, 36042180, 37181808, 37461802, 37818360, 38058065
★☆☆☆☆
Found in Text Mining only
Carcinoma Lobular Associate 25053597
★☆☆☆☆
Found in Text Mining only