DISEASES

Disease-gene associations mined from literature

Literature associating SLC38A9 and cholesterol ester storage disease

SLC38A9 [ENSP00000380074]

Sodium-coupled neutral amino acid transporter 9; Lysosomal amino acid transporter involved in the activation of mTORC1 in response to amino acid levels. Probably acts as an amino acid sensor of the Rag GTPases and Ragulator complexes, 2 complexes involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:25561175, PubMed:25567906, PubMed:29053970). Following activation by amino acids, the Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. SLC38A9 mediates transport of amino acids with low capacity and specificity with a slight preference for polar amino acids . Acts as an arginine sensor . Following activation by arginine binding, mediates transport of leucine, tyrosine and phenylalanine with high efficiency, and is required for the efficient utilization of these amino acids after lysosomal protein degradation .

Synonyms:  SLC38A9,  SLC38A9p,  hSLC38A9,  A0A024QZR9,  B3KVK8 ...

Linkouts:  STRING  Pharos  UniProt