SLC7A5 (solute carrier family 7 member 5)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8140
Gene name Solute carrier family 7 member 5
Gene symbol SLC7A5
Synonyms (NCBI Gene)
4F2LCCD98D16S469EE16LAT1MPE16
Chromosome 16
Chromosome location 16q24.2
miRNA miRNA information provided by mirtarbase database.
1922
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1922)
miRTarBase ID miRNA Experiments Reference
MIRT004528 hsa-miR-7-5p ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blotImmunoprecipitation 19892711
MIRT004144 hsa-miR-626 ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blotImmunoprecipitation 19892711
MIRT006088 hsa-miR-663a MicroarrayqRT-PCR 21378144
MIRT006088 hsa-miR-663a MicroarrayqRT-PCR 21378144
MIRT006088 hsa-miR-663a MicroarrayqRT-PCR 21378144
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
SP1 Unknown 17023546
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
90
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (90)
GO ID Ontology Definition Evidence Reference
GO:0002720 Process Positive regulation of cytokine production involved in immune response TAS 24038088
GO:0003333 Process Amino acid transmembrane transport IBA
GO:0005515 Function Protein binding IPI 25998567, 30867591, 30996345, 31160781, 35271311
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600182 11063 ENSG00000103257
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q01650
Protein name Large neutral amino acids transporter small subunit 1 (4F2 light chain) (4F2 LC) (4F2LC) (CD98 light chain) (Integral membrane protein E16) (E16) (L-type amino acid transporter 1) (hLAT1) (Solute carrier family 7 member 5) (y+ system cationic amino acid t
Protein function The heterodimer with SLC3A2 functions as a sodium-independent, high-affinity transporter that mediates uptake of large neutral amino acids such as phenylalanine, tyrosine, leucine, histidine, methionine, tryptophan, valine, isoleucine and alanin
PDB 6IRS , 6IRT , 6JMQ , 7DSK , 7DSL , 7DSN , 7DSQ , 8IDA , 8J8L , 8J8M , 8KDD , 8KDF , 8KDG , 8KDH , 8KDI , 8KDJ , 8KDN , 8KDO , 8KDP , 8X0W , 8XPU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13520 AA_permease_2 50 → 476 Amino acid permease Family
Tissue specificity TISSUE SPECIFICITY: Detected in placenta, in the syncytiotrophoblast layer (at protein level) (PubMed:11389679). Expressed abundantly in adult lung, liver, brain, skeletal muscle, placenta, bone marrow, testis, resting lymphocytes and monocytes, and in fe
Sequence
Sequence length 507
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  mTOR signaling pathway
Central carbon metabolism in cancer 		  Basigin interactions
Amino acid transport across the plasma membrane
Tryptophan catabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
16
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Uncertain significance rs2143738378 RCV001849610
SLC7A5-related disorder Likely benign; Benign rs148183733, rs549051612, rs774535808, rs777967482, rs371378644, rs986514243, rs141073967, rs33983951, rs11541881, rs779157899, rs17853938, rs17853937, rs2230174, rs33938662, rs33913122 RCV003906822
RCV003979729
RCV003917020
RCV003909350
RCV003914140
RCV003954310
RCV003931623
RCV003939642
RCV003937079
RCV003947092
RCV003979102
RCV003935882
RCV003916262
RCV003910809
RCV003950658
Show/Hide Text Mining Associations (119)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 24694899, 25835180
Adenocarcinoma of Lung Associate 40179422, 40682067
Arthritis Rheumatoid Stimulate 29422900
Arthritis Rheumatoid Associate 32867828
Astrocytoma Associate 17329830
Atrophy Associate 38284122
Autism Spectrum Disorder Associate 31701662, 39428051
Autistic Disorder Associate 34579098
Bacterial Infections Associate 25701737
Bile Duct Neoplasms Associate 24890221