其他名称: BIN1; AMPHL; Myc box-dependent-interacting protein 1; Amphiphysin II; Amphiphysin-like protein; Box-dependent myc-interacting protein 1; Bridging integrator 1
实测条带: 64kD
功能: alternative products:Additional isoforms seem to exist,disease:Defects in BIN1 are the cause of centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]; 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.,function:May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation.,PTM:Phosphorylated by protein kinase C.,similarity:Contains 1 BAR domain.,similarity:Contains 1 SH3 domain.,subunit:Heterodimer with AMPH. Binds SH3GLB1 (By similarity). Binds to SYNJ1 and DNM1 through its SH3 domain, and to clathrin through a region outside of the SH3 domain. Also binds AP2A2. Interacts with the N-terminal transactivation domain of MYC in a manner requiring the integrity of the conserved MYC box regions 1 and 2. Interacts with BIN2. Interacts with HCV NS5A through its SH3 domain.,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.,
组织表达: Ubiquitous. Highest expression in the brain and muscle (PubMed:9182667). Expressed in oligodendrocytes (PubMed:27488240). Isoform IIA is expressed only in the brain, where it is detected in the gray matter, but not in the white matter (PubMed:27488240). Isoform BIN1 is widely expressed with highest expression in skeletal muscle.
其他名称: BIN1; AMPHL; Myc box-dependent-interacting protein 1; Amphiphysin II; Amphiphysin-like protein; Box-dependent myc-interacting protein 1; Bridging integrator 1
实测条带: 64kD
功能: alternative products:Additional isoforms seem to exist,disease:Defects in BIN1 are the cause of centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]; 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.,function:May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation.,PTM:Phosphorylated by protein kinase C.,similarity:Contains 1 BAR domain.,similarity:Contains 1 SH3 domain.,subunit:Heterodimer with AMPH. Binds SH3GLB1 (By similarity). Binds to SYNJ1 and DNM1 through its SH3 domain, and to clathrin through a region outside of the SH3 domain. Also binds AP2A2. Interacts with the N-terminal transactivation domain of MYC in a manner requiring the integrity of the conserved MYC box regions 1 and 2. Interacts with BIN2. Interacts with HCV NS5A through its SH3 domain.,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.,
组织表达: Ubiquitous. Highest expression in the brain and muscle (PubMed:9182667). Expressed in oligodendrocytes (PubMed:27488240). Isoform IIA is expressed only in the brain, where it is detected in the gray matter, but not in the white matter (PubMed:27488240). Isoform BIN1 is widely expressed with highest expression in skeletal muscle.