pleckstrin homology domain-containing family G member 5 (guanine nucleotide exchange factor 720, GEF720, PLEKHG5, KIAA0720)

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

General

phosphoprotein pleckstrin homology domain containing family

Properties

SIZE: entity length = 1062 aa MW = 117 kD COMPARTMENT: cytoplasm MOTIF: glutamate-rich region {94-99} MOTIF: glutamate residue (SEVERAL) Dbl homology domain {392-584} PH domain {640-740} glutamate-rich region {761-781} MOTIF: glutamate residue (SEVERAL) Ser phosphorylation site {S932} Ser phosphorylation site {S934} Ser phosphorylation site {S959}

Database Correlations

UniProt O94827 PFAM correlations

References

UniProt :accession O94827