DISEASES

Disease-gene associations mined from literature

Literature associating RAC1 and retinitis pigmentosa 47

RAC1 [ENSP00000348461]

Ras-related C3 botulinum toxin substrate 1; Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarization, neurons adhesion, migration and differentiation, and growth-factor induced formation of membrane ruffles . Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity in macrophages. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. Stimulates PKN2 kinase activity . In concert with RAB7A, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts . In podocytes, promotes nuclear shuttling of NR3C2; this modulation is required for a proper kidney functioning. Required for atypical chemokine receptor ACKR2-induced LIMK1-PAK1-dependent phosphorylation of cofilin (CFL1) and for up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. In neurons, is involved in dendritic spine formation and synaptic plasticity (By similarity). In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3. ECO:0000269|PubMed:1643658, ECO:0000269|PubMed:28886345,

Synonyms:  RAC1,  RAC1p,  hRAC1,  A4D2P0,  A4D2P1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM