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; OMA:PLEKHG5 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	6,520,074 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	152,199,857 bp
RNA expression pattern
	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
	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
	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 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 invasion.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000171680 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b "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 on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

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

[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.

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