DISEASES

Disease-gene associations mined from literature

Literature associating SQSTM1 and frontotemporal dementia

SQSTM1 [ENSP00000374455]

Phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa; Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family. Along with WDFY3, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with SQSTM1, required to recruit ubiquitinated proteins to PML bodies in the nucleus. May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate signaling cascades through ubiquitination. Adapter that mediates the interaction between TRAF6 and CYLD (By similarity). May be involved in cell differentiation, apoptosis, immune response and regulation of K(+) channels. Involved in endosome organization by retaining vesicles in the perinuclear cloud: following ubiquitination by RNF26, attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport; Zinc fingers ZZ-type

Synonyms:  SQSTM1,  SQSTM1p,  hSQSTM1,  C9J6J8,  C9JRJ8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM