PLEKHG5

Pleckstrin homology domain containing, family G member 5 (PLEKHG5) is a protein that in humans is encoded by the PLEKHG5 gene.^[5] Eight transcript variants encoding different isoforms have been found for this gene.

PLEKHG5
Identifiers
Aliases	PLEKHG5, CMTRIC, DSMA4, GEF720, Syx, Tech, pleckstrin homology and RhoGEF domain containing G5
External IDs	OMIM: 611101; MGI: 2652860; HomoloGene: 10768; GeneCards: PLEKHG5; OMA:PLEKHG5 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p36.31 Start 6,467,122 bp[1] End 6,520,074 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 E2 Start 152,156,955 bp[2] End 152,199,857 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve right hemisphere of cerebellum skin of abdomen skin of leg anterior pituitary skin of arm apex of heart spleen right frontal lobe ganglionic eminence Top expressed in dentate gyrus of hippocampal formation granule cell visual cortex primary visual cortex superior frontal gyrus motor neuron epithelium of lens hippocampus proper lip yolk sac prefrontal cortex More reference expression data BioGPS n/a
Gene ontology Molecular function signal transducer activity guanyl-nucleotide exchange factor activity Cellular component endocytic vesicle cytoplasm cell projection cytosol cell junction lamellipodium cell-cell junction membrane perinuclear region of cytoplasm plasma membrane Biological process endothelial cell chemotaxis regulation of Rho protein signal transduction positive regulation of apoptotic process endothelial cell migration regulation of small GTPase mediated signal transduction positive regulation of I-kappaB kinase/NF-kappaB signaling G protein-coupled receptor signaling pathway regulation of molecular function Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57449 269608 Ensembl ENSG00000171680 ENSMUSG00000039713 UniProt O94827 Q66T02 RefSeq (mRNA) NM_198681 NM_001042663 NM_001042664 NM_001042665 NM_001265592 NM_001265593 NM_001265594 NM_020631 NM_001004156 NM_001285999 NM_001374783 RefSeq (protein) NP_001036128 NP_001036129 NP_001036130 NP_001252521 NP_001252522 NP_001252523 NP_065682 NP_941374 NP_001272928 NP_001361712 Location (UCSC) Chr 1: 6.47 – 6.52 Mb Chr 4: 152.16 – 152.2 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a protein which catalyzes the exchange of GDP for GTP within the small GTPase RhoA which in turn modulates the activation of mDia or Rock kinase to influence cell polarization. It is known to interact with the Crumbs polarity complex by binding to either of the multi PDZ domain adapter proteins Patj or Muc-1. When it is active it helps promote tight junction stabilization. siRNA inhibition of PLKHG5 has been shown to inhibit the motility of cells in scratch assays.^[6][7] It has also been shown to activate the nuclear factor kappa B (NFKB1) signaling pathway.^[5]

Clinical significance

Mutations in the PLEKHG5 gene are associated with distal spinal muscular atrophy type 4. This protein has also shown to be highly expressed in several glioma cell lines, and is likely a driver of tissue paper invasion.^[8]