BIN1

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 (PubMed:24755653). 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 (PubMed:27179792). 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 (PubMed:8782822). Has actin bundling activity and stabilizes actin filaments against depolymerization in vitro (PubMed:28893863).

Involvement in disease

Myopathy, centronuclear, 2

CNM2

A congenital muscle disorder 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.

None

The disease is caused by variants affecting the gene represented in this entry.

BIN1 mutations have been found in families segregating autosomal dominant centronuclear myopathy. Patients show adult-onset, mildly progressive muscle weakness affecting selected proximal muscles and all distal muscles of the lower limbs.

Post-translational modifications

Phosphorylated by protein kinase C.

Tissue specificity

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.

Cellular localization

• Isoform BIN1
• Nucleus
• Cytoplasm
• Endosome
• Cell membrane
• Sarcolemma
• T-tubule
• Isoform IIA
• Cytoplasm

Alternative names

• Myc box-dependent-interacting protein 1
• Amphiphysin II
• Amphiphysin-like protein
• Box-dependent myc-interacting protein 1
• Bridging integrator 1
• AMPHL
• BIN1

Database links

• entrezGene:274
• omim:601248
• swissprot:O00499

Target type

Proteins

Primary research area

Neuroscience

Molecular weight

64699Da