DISEASES

Disease-gene associations mined from literature

Literature associating ULK1 and nemaline myopathy 1

ULK1 [ENSP00000324560]

Unc-51 like autophagy activating kinase 1; Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3- kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK and also acts as a regulator of AMPK by mediating phosphorylation of AMPK subunits PRKAA1, PRKAB2 and PRKAG1, leading to negatively regulate AMPK activity. May phosphorylate ATG13/KIAA0652 and RPTOR; however such data need additional evidences. Plays a role early in neuronal differentiation and is required for granule cell axon formation. May also phosphorylate SESN2 and SQSTM1 to regulate autophagy.

Synonyms:  ULK1p,  hULK1,  F5GZQ0,  F5H1S7,  F5H4E9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM