PLEKHG5 (original) (raw)

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Protein-coding gene in the species Homo sapiens

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]Band1p36.31Start6,467,122 bp[1]End6,520,074 bp[1]
Gene location (Mouse)Chr.Chromosome 4 (mouse)[2]Band4|4 E2Start152,156,955 bp[2]End152,199,857 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed insural nerveright hemisphere of cerebellumskin of abdomenskin of leganterior pituitaryskin of armapex of heartspleenright frontal lobeganglionic eminenceTop expressed indentate gyrus of hippocampal formation granule cellvisual cortexprimary visual cortexsuperior frontal gyrusmotor neuronepithelium of lenshippocampus properlipyolk sacprefrontal cortexMore reference expression dataBioGPSn/a
Gene ontologyMolecular 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
OrthologsSpeciesHuman MouseEntrez57449269608EnsemblENSG00000171680ENSMUSG00000039713UniProtO94827Q66T02RefSeq (mRNA)NM_198681NM_001042663NM_001042664NM_001042665NM_001265592NM_001265593NM_001265594NM_020631NM_001004156NM_001285999NM_001374783RefSeq (protein)NP_001036128NP_001036129NP_001036130NP_001252521NP_001252522NP_001252523NP_065682NP_941374NP_001272928NP_001361712Location (UCSC)Chr 1: 6.47 – 6.52 MbChr 4: 152.16 – 152.2 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/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.

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

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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]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171680 – Ensembl, May 2017
2. ^ a b c 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.
5. ^ a b "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.

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