PLEKHG5

Identifiers

PLEKHG5, CMTRIC, DSMA4, GEF720, Syx, Tech, pleckstrin homology and RhoGEF domain containing G5

External IDs

MGI: 2652860 HomoloGene: 10768 GeneCards: PLEKHG5

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 • cell-cell junction • membrane • perinuclear region of cytoplasm • plasma membrane
Biological process	• endothelial cell chemotaxis • regulation of Rho protein signal transduction • positive regulation of GTPase activity • positive regulation of apoptotic process • endothelial cell migration • regulation of small GTPase mediated signal transduction • positive regulation of I-kappaB kinase/NF-kappaB signaling • signal transduction
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

RefSeq (protein)

NP_001036128.1 NP_001036129.1 NP_001036130.1 NP_001252521.1 NP_001252522.1
NP_001252523.1 NP_065682.2 NP_941374.2


NP_001272928.1

Location (UCSC)

Chr 1: 6.47 – 6.52 Mb

Chr 4: 152.07 – 152.12 Mb

PubMed search

^[1]

^[2]

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.^[3] Multiple transcript variants encoding different isoforms have been found for this gene.

Function

This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway.^[3]

Clinical significance

Mutations in the PLEKHG5 gene are associated with distal spinal muscular atrophy type 4.

References

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

This article is issued from Wikipedia - version of the 5/20/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.