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Rabbit Anti-Cordon bleu homolog antibody
Cordon-bleu, also known as COBL, is a 1,261 amino acid protein that localizes to the node of the axial midline, a structure that organizes morphogenesis of the vertebrate embryo. Widely conserved and existing as five alternatively spliced isoforms, Cordon-bleu interacts with Vangl2 to mediate closure of the midbrain neural tube and is highly expressed in pancreas, ovary, brain, liver, lung and kidney. Cordon-bleu contains three WH2 domains and is encoded by a gene that maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance.
Function:
Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles.
Subunit:
Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X. Interacts (via WH2 domains) with actin monomers. Interacts with both PACSIN1 and DBNL. Identified in a complex composed of COBL, PACSIN1 and WASL. Interacts with PACSIN1, PACSIN2 and PACSIN3 (By similarity).
Subcellular Location:
Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm, cytoskeleton (By similarity). Cell projection, ruffle (By similarity). Cytoplasm (By similarity). Note=Recruited to the cell membrane via interaction with PACSIN1. Colocalizes with the actin cytoskeleton. Detected throughout the neuron cell body, as well as in axons and dendrites (By similarity).
Similarity:
Contains 3 WH2 domains
SWISS:
O75128
Gene ID:
23242
Database links:
Entrez Gene: 23242 Human
Entrez Gene: 2568 Mouse
Omim: 610317 Human
SwissProt: O75128 Human
SwissProt: Q5NBX1 Mouse
Unigene: 99141 Human
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