pleckstrin homology domain-containing family G member 5 (guanine nucleotide exchange factor 720, GEF720, PLEKHG5, KIAA0720)
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Function
- activates the NF-kappa-B signaling pathway & RHOA
- appears to be involved in the control of neuronal cell differentiation
- interacts with GIPC1/synectin & RHOA (putative)
Structure
- contains 1 DH (DBL-homology) domain
- contains 1 PH domain
Compartment
- cytoplasm, perinuclear region
- predominantly cytoplasmic, when cells are stimulated found in perinuclear regions (putative)
Alternative splicing
named isoforms=4
Expression
- predominantly expressed in the peripheral nervous system & brain
- highest expression is observed in heart, lung, kidney, testis & moderate expression is present in spleen, pancreas, skeletal muscle, ovary & liver
Pathology
- weakly expressed in glioblastoma cells (GBM cell lines)
- defects in PLEKHG5 are the cause of autosomal recessive distal spinal muscular atrophy type 4