InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PLEKHG5

Summary

InnateDB Protein

IDBP-87727.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PLEKHG5

Protein Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 5

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000366954

InnateDB Gene

IDBG-87695 (PLEKHG5)

Protein Structure

UniProt Annotation

Function

Guanine nucleotide exchange factor that activates RHOA and maybe the NF-kappa-B signaling pathway. Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. {ECO:0000269PubMed:11704860, ECO:0000269PubMed:12761501}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}. Cell junction {ECO:0000250}. Cell projection, lamellipodium {ECO:0000250}. Note=Predominantly cytoplasmic, however when cells are stimulated found in perinuclear regions. Localized at cell-cell junctions in quiescent endothelial cells, it relocalizes to cytoplasmic vesicle and the leading edge of lamellipodia in migrating endothelial cells (By similarity). {ECO:0000250}.

Disease Associations

Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4) [MIM:611067]: A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent. {ECO:0000269PubMed:17564964}. Note=The disease is caused by mutations affecting the gene represented in this entry.Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC) [MIM:615376]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269PubMed:23777631, ECO:0000269PubMed:23844677}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Predominantly expressed in the peripheral nervous system and brain. Highest expression is observed in heart, lung, kidney, testis and moderate expression is present in spleen, pancreas, skeletal muscle, ovary and liver. Weakly expressed in glioblastoma (GBM) cell lines. {ECO:0000269PubMed:11704860, ECO:0000269PubMed:16467373, ECO:0000269PubMed:9872452}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004871	signal transducer activity
GO:0005089	Rho guanyl-nucleotide exchange factor activity

Biological Process

GO:0007264	small GTPase mediated signal transduction
GO:0032321	positive regulation of Rho GTPase activity
GO:0035023	regulation of Rho protein signal transduction
GO:0035767	endothelial cell chemotaxis
GO:0043065	positive regulation of apoptotic process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0051056	regulation of small GTPase mediated signal transduction
GO:0097190	apoptotic signaling pathway

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005911	cell-cell junction
GO:0030027	lamellipodium
GO:0030139	endocytic vesicle
GO:0048471	perinuclear region of cytoplasm