DISEASES

Disease-gene associations mined from literature

Literature associating LAPTM4B and gallbladder sarcoma

LAPTM4B [ENSP00000402301]

Lysosomal-associated transmembrane protein 4B; Required for optimal lysosomal function . Blocks EGF-stimulated EGFR intraluminal sorting and degradation. Conversely by binding with the phosphatidylinositol 4,5-bisphosphate, regulates its PIP5K1C interaction, inhibits HGS ubiquitination and relieves LAPTM4B inhibition of EGFR degradation . Recruits SLC3A2 and SLC7A5 (the Leu transporter) to the lysosome, promoting entry of leucine and other essential amino acid (EAA) into the lysosome, stimulating activation of proton-transporting vacuolar (V)-ATPase protein pump (V-ATPase) and hence mTORC1 activation . Plays a role as negative regulator of TGFB1 production in regulatory T cells . Binds ceramide and facilitates its exit from late endosome in order to control cell death pathways . ECO:0000269|PubMed:25588945, ECO:0000269|PubMed:25998567,

Synonyms:  LAPTM4B,  LAPTM4Bp,  hLAPTM4B,  H0YBN1,  Q86VI4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM