PLEKHG5 blocking peptide

PLEKHG5 Antibody (N-term) Blocking Peptide

• Gene Names: PLEKHG5; Syx; Tech; DSMA4; CMTRIC; GEF720
• Synonyms: PLEKHG5; PLEKHG5 Antibody (N-term) Blocking Peptide; Pleckstrin homology domain-containing family G member 5; PH domain-containing family G member 5; Guanine nucleotide exchange factor 720; GEF720; KIAA0720; PLEKHG5 blocking peptide

• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 1062

• Cellular Location: Cytoplasm. Cytoplasm, perinuclear region. Cell junction Cell projection, lamellipodium. 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).
• Tissue Location: 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.
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for PLEKHG5 blocking peptide

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.

NCBI and Uniprot Product Information

• NCBI GI #: 160014162
• NCBI GeneID: 57449
• UniProt Accession #: O94827; Q5SY17; Q5T8W5; Q5T8W9; Q6ZNM0; Q7Z436; Q86YD8; B3KU07; B7Z2M3; B7Z5X2; F5GZ21; F5H1I0
• Molecular Weight: 118,479 Da
• NCBI Official Full Name: Pleckstrin homology domain-containing family G member 5
• NCBI Official Synonym Full Names: pleckstrin homology and RhoGEF domain containing G5
• NCBI Official Symbol: PLEKHG5
• NCBI Official Synonym Symbols: Syx; Tech; DSMA4; CMTRIC; GEF720
• NCBI Protein Information: pleckstrin homology domain-containing family G member 5
• UniProt Protein Name: Pleckstrin homology domain-containing family G member 5
• Protein Family: Pleckstrin homology domain-containing family
• UniProt Gene Name: PLEKHG5
• UniProt Synonym Gene Names: KIAA0720; PH domain-containing family G member 5; GEF720
• UniProt Entry Name: PKHG5_HUMAN

NCBI Description

This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

Uniprot Description

PLEKHG5: Activates the NF-kappa-B signaling pathway and RHOA. Appears to be involved in the control of neuronal cell differentiation. Defects in PLEKHG5 are the cause of distal spinal muscular atrophy autosomal recessive type 4 (DSMA4). 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. 5 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 1p36.31

Cellular Component: cytoplasm; cytosol; endocytic vesicle; intercellular junction; lamellipodium

Molecular Function: guanyl-nucleotide exchange factor activity; Rho guanyl-nucleotide exchange factor activity; signal transducer activity

Biological Process: positive regulation of apoptosis; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of small GTPase mediated signal transduction

Disease: Charcot-marie-tooth Disease, Recessive Intermediate C; Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4