UNC119 blocking peptide

UNC119 Antibody (Center) Blocking Peptide

• Gene Names: UNC119; HRG4; POC7; IMD13; POC7A
• Synonyms: UNC119; UNC119 Antibody (Center) Blocking Peptide; Protein unc-119 homolog A; Retinal protein 4; hRG4; RG4; UNC119 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: 240

• Cellular Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, spindle. Note: Localizes to the centrosome in interphase cells and begins to translocate from the spindle pole to the spindle midzone after the onset of mitosis; it then localizes to the intercellular bridge in telophase cells and to the midbody in cytokinetic cells.
• Tissue Location: Abundantly expressed in retina, in photoreceptor synapses and inner segments. Expressed in a much lesser extent in several other tissues
• 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 UNC119 blocking peptide

Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid- binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Probably plays a role in trafficking proteins in photoreceptor cells. Plays important roles in mediating Src family kinase signals for the completion of cytokinesis via RAB11A.

NCBI and Uniprot Product Information

• NCBI GI #: 2498854
• NCBI GeneID: 9094
• UniProt Accession #: Q13432; O95126; A8K8G4; F1T095
• Molecular Weight: 24,112 Da
• NCBI Official Full Name: Protein unc-119 homolog A
• NCBI Official Synonym Full Names: unc-119 lipid binding chaperone
• NCBI Official Symbol: UNC119
• NCBI Official Synonym Symbols: HRG4; POC7; IMD13; POC7A
• NCBI Protein Information: protein unc-119 homolog A
• UniProt Protein Name: Protein unc-119 homolog A
• Protein Family: UNC119-binding protein
• UniProt Gene Name: UNC119
• UniProt Synonym Gene Names: RG4; hRG4
• UniProt Entry Name: U119A_HUMAN

NCBI Description

This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Uniprot Description

UNC119: Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N- terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G- protein localization and trafficking in sensory neurons. Binds myristoylated NPHP3; however, in contrast to UNC119B, does not seem to play a major role in ciliary membrane localization of NPHP3. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells. Defects in UNC119 may be a cause of cone-rod dystrophy. A mutation was found in a 57-year-old woman with late- onset cone-rod dystrophy: from 40 year old, the patient suffered from poor night vision, defective color vision and light- sensitivity. At 57 year old, she displayed reduced visual acuity, myopa, macular atrophy and pericentral ring scotomas. The disease was caused by a heterozygous mutation causing premature termination and truncated UNC119 protein with dominant-negative effect. Belongs to the PDE6D/unc-119 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 17q11.2

Cellular Component: centrosome; cytosol; intercellular bridge; spindle midzone; spindle pole

Molecular Function: lipid binding; protein binding

Biological Process: lipoprotein transport; phototransduction; synaptic transmission

Disease: Immunodeficiency 13