PLEKHG5

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
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	6,520,061 bp[1]
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)[2]
End	152,115,400 bp[2]
Gene ontology
Molecular function	• signal transducer activity; • Rho guanyl-nucleotide exchange factor activity; • guanyl-nucleotide exchange factor activity;
Cellular component	• endocytic vesicle; • cytoplasm; • cell projection; • cytosol; • cell junction; • lamellipodium; • intercellular junction; • membrane; • perinuclear region of cytoplasm; • cell 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
	57449
	269608
	ENSG00000171680
	ENSMUSG00000039713
	O94827
	Q66T02
NM_198681; NM_001042663; NM_001042664; NM_001042665; NM_001265592;
	NM_001265593; NM_001265594; NM_020631
	NM_001004156; NM_001285999; NM_001374783
NP_001036128; NP_001036129; NP_001036130; NP_001252521; NP_001252522;
	NP_001252523; NP_065682; NP_941374
	NP_001272928; NP_001361712
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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 the multi PDZ domain adapter protein Patj. 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 metastasis.[8]

References

GRCh38: Ensembl release 89: ENSG00000171680 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000039713 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: Pleckstrin homology domain containing, family G (with RhoGef domain) member 5".
Dachsel JC, Ngok SP, Lewis-Tuffin LJ, Kourtidis A, Geyer R, Johnston L, et al. (December 2013). "The Rho guanine nucleotide exchange factor Syx regulates the balance of dia and ROCK activities to promote polarized-cancer-cell migration". Molecular and Cellular Biology. 33 (24): 4909–18. doi:10.1128/MCB.00565-13. PMC 3889543. PMID 24126053.
Ngok SP, Lin WH, Anastasiadis PZ (August 2014). "Establishment of epithelial polarity--GEF who's minding the GAP?". Journal of Cell Science. 127 (Pt 15): 3205–15. doi:10.1242/jcs.153197. PMC 4117226. PMID 24994932.
Liu M, Horowitz A (April 2006). "A PDZ-binding motif as a critical determinant of Rho guanine exchange factor function and cell phenotype". Molecular Biology of the Cell. 17 (4): 1880–7. doi:10.1091/mbc.e06-01-0002. PMC 1415294. PMID 16467373.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000171680 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000039713 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Pleckstrin homology domain containing, family G (with RhoGef domain) member 5".

[6] Dachsel JC, Ngok SP, Lewis-Tuffin LJ, Kourtidis A, Geyer R, Johnston L, et al. (December 2013). "The Rho guanine nucleotide exchange factor Syx regulates the balance of dia and ROCK activities to promote polarized-cancer-cell migration". Molecular and Cellular Biology. 33 (24): 4909–18. doi:10.1128/MCB.00565-13. PMC 3889543. PMID 24126053.

[7] Ngok SP, Lin WH, Anastasiadis PZ (August 2014). "Establishment of epithelial polarity--GEF who's minding the GAP?". Journal of Cell Science. 127 (Pt 15): 3205–15. doi:10.1242/jcs.153197. PMC 4117226. PMID 24994932.

[8] Liu M, Horowitz A (April 2006). "A PDZ-binding motif as a critical determinant of Rho guanine exchange factor function and cell phenotype". Molecular Biology of the Cell. 17 (4): 1880–7. doi:10.1091/mbc.e06-01-0002. PMC 1415294. PMID 16467373.