BIN1 Human
Description
Product Specs
Product Science Overview
Bridging Integrator 1 (BIN1), also known as Myc box-dependent-interacting protein 1, is a protein encoded by the BIN1 gene in humans. This protein is a member of the BAR (Bin/Amphiphysin/Rvs) adapter family and plays a crucial role in various cellular processes, including membrane curvature, membrane shaping, and membrane remodeling .
The BIN1 gene is located on chromosome 2 in humans and produces several isoforms through alternative splicing. These isoforms are expressed in different tissues, including the central nervous system, muscle, and other tissues . The protein structure of BIN1 includes an N-terminal BAR domain, which is responsible for membrane binding and curvature, and a C-terminal SH3 domain, which mediates protein-protein interactions .
BIN1 is involved in several critical cellular functions:
- Membrane Remodeling: BIN1 is essential for the formation of T-tubules in muscle cells, which are tubular invaginations of the plasma membrane that function in depolarization-contraction coupling .
- Endocytosis: BIN1 acts as a negative regulator of endocytosis, a process by which cells internalize molecules and particles from their surroundings .
- Synaptic Vesicle Endocytosis: In the central nervous system, BIN1 is involved in synaptic vesicle endocytosis, interacting with proteins such as dynamin, synaptojanin, endophilin, and clathrin .
Mutations in the BIN1 gene have been associated with several diseases:
- Alzheimer’s Disease: BIN1 has been identified as a significant risk locus for late-onset Alzheimer’s disease. The protein has been reported to mediate tau pathology, which is a hallmark of Alzheimer’s disease .
- Skeletal Myopathies: Mutations in BIN1 are linked to centronuclear myopathy, a condition characterized by muscle weakness, and myotonic dystrophy, which causes progressive muscle wasting, myotonia, cataracts, and heart conduction defects .
- Cardiomyopathy: Knockdown of BIN1 produces a cardiomyopathy phenotype in zebrafish, and in sheep, BIN1 may be responsible for the loss of T-tubules seen in heart failure .
Recent research has highlighted the potential therapeutic applications of targeting BIN1. For instance, inhibiting the cleavage of BIN1 by the cysteine protease legumain has shown promise in ameliorating tau pathology and cognitive deficits in Alzheimer’s disease models . This suggests that BIN1 could be a valuable target for developing treatments for neurodegenerative diseases.
