Myc box-dependent-interacting protein 1, also known as Bridging Integrator-1 and Amphiphysin-2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''BIN1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
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
A tumor suppressor gene (TSG), or anti-oncogene, is a gene that regulates a cell (biology), cell during cell division and replication. If the cell grows uncontrollably, it will result in cancer. When a tumor suppressor gene is mutated, it results ...
.
Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynanim, 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 ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described.
Clinical significance
In humans, mutations in BIN1 have been associated with skeletal myopathies including centronuclear
myopathy
In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly. ''Myopathy'' means muscle disease ( Greek : myo- ''muscle'' + patheia '' -pathy'' : ''suffering''). This meaning implies that the primary defec ...
causing muscle weakness
and myotonic dystrophy causing progressive muscle wasting, myotonia, cataracts, and heart conduction defects.
An association has also been found between BIN1 mutations and Alzheimer's disease.
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.
Interactions
BIN1 has been shown to
interact with
Phospholipase D1,
and
PLD2
Phospholipase D2 is an enzyme that in humans is encoded by the ''PLD2'' gene.
Function
Phosphatidylcholine (PC)-specific phospholipase D, phospholipases D (PLDs) catalyze the hydrolysis of PC to produce phosphatidic acid and choline. Activati ...
.
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References
Further reading
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External links
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{{Adaptor proteins