Aliases for BIN1 Gene
External Ids for BIN1 Gene
Previous Symbols for BIN1 Gene
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 ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Sep 2011]
GeneCards Summary for BIN1 Gene
BIN1 (Bridging Integrator 1) is a Protein Coding gene. Diseases associated with BIN1 include intracranial abscess and myopathy, centronuclear, autosomal recessive. Among its related pathways are Arf6 trafficking events and Delta508-CFTR traffic / ER-to-Golgi in CF. GO annotations related to this gene include protein heterodimerization activity and GTPase binding. An important paralog of this gene is AMPH.
UniProtKB/Swiss-Prot for BIN1 Gene
May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation