Product Overview
Description
CLPP-00150315 is recombinant human BIN1 protein
Applications
Mass Spectrometry, SDS-PAGE
Protein Length
Full length protein
Nature
Recombinant Protein
Sequence
MGSSHHHHHHSSGLVPRGSHMAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPPDGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQPAEASEVAGGTQPAAGAQEPGETAASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQLRAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP
Sequence Similarities
Contains 1 BAR domain. Contains 1 SH3 domain.
Predicted Molecular Weight
50 kDa including tags
Target Information
Alternative Names
AMPH 2; AMPH2; Amphiphysin 2; Amphiphysin II; Amphiphysin like protein; amphiphysin-like; Amphiphysin-like protein; AMPHL; Bin1; BIN1_HUMAN; Box Dependant MYC Interacting Protein 1; Box-dependent myc-interacting protein 1; Bridging integrator 1; DKFZp547F068; MGC10367; MGC105358; Myc box dependent interacting protein 1; Myc box-dependent-interacting protein 1; SH3P9
Protein Function
Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Required in muscle cells for the formation of T-tubules, tubular invaginations of the plasma membrane that function in depolarization-contraction coupling. Is a negative regulator of endocytosis (By similarity). Is also involved in the regulation of intracellular vesicles sorting, modulation of BACE1 trafficking and the control of amyloid-beta production. In neuronal circuits, endocytosis regulation may influence the internalization of PHF-tau aggregates (By similarity). May be involved in the regulation of MYC activity and the control cell proliferation. Has actin bundling activity and stabilizes actin filaments against depolymerization in vitro.
Tissue Specificity
Ubiquitous. Highest expression in the brain and muscle. Isoform IIA is expressed only in the brain where it is concentrated in axon initial segments and nodes of Ranvier. Isoform BIN1 is widely expressed with highest expression in skeletal muscle.
Involvement in Disease
Defects in BIN1 are the cause of centronuclear myopathy autosomal recessive (ARCNM); also known as autosomal recessive myotubular myopathy. Centronuclear myopathies are congenital muscle disorders characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
Shipping & Handling
Constituents
0.0154% DTT, 0.316% Tris HCl, 10% Glycerol (glycerin, glycerine).
Shipping
Shipped at 4 °C.
Storage
Store at -20 °C or -80 °C.
