DISEASES

Disease-gene associations mined from literature

Literature on RB1CC1

RB1CC1 [ENSP00000025008]

FAK family kinase-interacting protein of 200 kDa; Involved in autophagy. Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1. Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) during S.typhimurium infection and subsequent xenophagy (By similarity). Involved in repair of DNA damage caused by ionizing radiation, which subsequently improves cell survival by decreasing apoptosis (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinase activity, affecting their downstream signaling pathways. Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111 (By similarity). Functions as a DNA-binding transcription factor. Is a potent regulator of the RB1 pathway through induction of RB1 expression. Plays a crucial role in muscular differentiation. Plays an indispensable role in fetal hematopoiesis and in the regulation of neuronal homeostasis (By similarity); Belongs to the ATG17 family.

Synonyms:  RB1CC1,  RB1CC1p,  hRB1CC1,  B4DGF9,  E5RH44 ...

Linkouts:  STRING  Pharos  UniProt  OMIM