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 ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Sep 2011]

Description

bridging integrator 1

Protein family

Mapped to UniProt SWISS-PROT, SH3-domain containing proteins

Chromosome

2:q14.3 (127805603 - 127864931)

Ensembl ID

ENSG00000136717  (ver. 71.37)

Orthologs

Mouse Bin1: ENSMUSG00000024381

Human splice variants
Mouse splice variants