DISEASES

Disease-gene associations mined from literature

Literature associating DENND3 and Hirschsprung's disease

DENND3 [ENSP00000262585]

DENN domain-containing protein 3; Guanine nucleotide exchange factor (GEF) activating RAB12. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB12 into its active GTP-bound form. Regulates autophagy in response to starvation through RAB12 activation. Starvation leads to ULK1/2-dependent phosphorylation of Ser-472 and Ser-490, which in turn allows recruitment of 14-3-3 adapter proteins and leads to up-regulation of GEF activity towards RAB12 (By similarity). Also plays a role in protein transport from recycling endosomes to lysosomes, regulating, for instance, the degradation of the transferrin receptor and of the amino acid transporter PAT4. Starvation also induces phosphorylation at Tyr-858, which leads to up-regulated GEF activity and initiates autophagy (By similarity); DENN/MADD domain containing

Synonyms:  DENND3,  DENND3p,  hDENND3,  A2RUS2,  B3KRG7 ...

Linkouts:  STRING  Pharos  UniProt