DISEASES

Disease-gene associations mined from literature

Literature associating SH3GLB1 and alveolar echinococcosis

SH3GLB1 [ENSP00000479919]

Endophilin-B1; May be required for normal outer mitochondrial membrane dynamics . Required for coatomer-mediated retrograde transport in certain cells (By similarity). May recruit other proteins to membranes with high curvature. May promote membrane fusion . Involved in activation of caspase-dependent apoptosis by promoting BAX/BAK1 activation . Isoform 1 acts proapoptotic in fibroblasts (By similarity). Involved in caspase- independent apoptosis during nutrition starvation and involved in the regulation of autophagy. Activates lipid kinase activity of PIK3C3 during autophagy probably by associating with the PI3K complex II (PI3KC3-C2) . Associated with PI3KC3-C2 during autophagy may regulate the trafficking of ATG9A from the Golgi complex to the peripheral cytoplasm for the formation of autophagosomes by inducing Golgi membrane tubulation and fragmentation . Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 . Isoform 2 acts antiapoptotic in neuronal cells; involved in maintenance of mitochondrial morphology and promotes neuronal viability (By similarity). ECO:0000269|PubMed:11604418, ECO:0000269|PubMed:15452144, ECO:0000269|PubMed:17891140, ECO:0000269|PubMed:20643123,

Synonyms:  SH3GLB1,  SH3GLB1p,  hSH3GLB1,  A0A087WW40,  A0A140VJU5 ...

Linkouts:  STRING  Pharos  UniProt