NP_004296.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
54,948 Da
NCBI Official Full Name
myc box-dependent-interacting protein 1 isoform 8
NCBI Official Synonym Full Names
bridging integrator 1
NCBI Protein Information
myc box-dependent-interacting protein 1
UniProt Protein Name
Myc box-dependent-interacting protein 1
UniProt Synonym Protein Names
Amphiphysin II; Amphiphysin-like protein; Box-dependent myc-interacting protein 1; Bridging integrator 1
UniProt Synonym Gene Names
UniProt Entry Name
BIN1_HUMAN
NCBI Summary for BIN1
This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
UniProt Comments for BIN1
BIN1: May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation. Defects in BIN1 are the cause of centronuclear myopathy type 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. 11 isoforms of the human protein are produced by alternative splicing.
Protein type: Cytoskeletal; Vesicle; Adaptor/scaffold; Tumor suppressor
Chromosomal Location of Human Ortholog: 2q14
Cellular Component: actin cytoskeleton; axon; cytoplasm; I band; membrane; nucleus; T-tubule; Z disc
Molecular Function: actin filament binding; identical protein binding; protein binding; tau protein binding
Biological Process: cell proliferation; endocytosis; muscle cell differentiation; nuclear organization and biogenesis; positive regulation of apoptosis; positive regulation of astrocyte differentiation; regulation of endocytosis; regulation of neuron differentiation; viral reproduction
Disease: Myopathy, Centronuclear, 2
Research Articles on BIN1
Precautions
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Products associated with BIN1 blocking peptide
Pathways associated with BIN1 blocking peptide
Diseases associated with BIN1 blocking peptide
Disease Name |
Pubmed Publications |
Nervous System Diseases Antibodies |
>110 publications with BIN1 and Nervous System Diseases |
Alzheimer Disease Antibodies |
>83 publications with BIN1 and Alzheimer Disease |
Brain Diseases Antibodies |
>79 publications with BIN1 and Brain Diseases |
Myopathies, Structural, Congenital Antibodies |
>27 publications with BIN1 and Myopathies, Structural, Congenital |
MYOPATHY, CENTRONUCLEAR, 2 Antibodies |
>24 publications with BIN1 and MYOPATHY, CENTRONUCLEAR, 2 |
Cell Transformation, Neoplastic Antibodies |
>18 publications with BIN1 and Cell Transformation, Neoplastic |
Cardiovascular Diseases Antibodies |
>13 publications with BIN1 and Cardiovascular Diseases |
Breast Neoplasms Antibodies |
>12 publications with BIN1 and Breast Neoplasms |
Heart Diseases Antibodies |
>12 publications with BIN1 and Heart Diseases |
Disease Models, Animal Antibodies |
>11 publications with BIN1 and Disease Models, Animal |
Organs/Tissues associated with BIN1 blocking peptide
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