BIN1

Also known as AMPH2, AMPHL, SH3P9, bridging integrator 1, CNM2

Myc box-dependent-interacting protein 1, also known as Bridging Integrator-1 and Amphiphysin-2 is a protein that in humans is encoded by the BIN1 gene.

Gene data

BIN1

Name: bridging integrator 1
Type: protein-coding
Position: 127,048,017–127,107,556 (−)
Aliases: AMPH2, AMPHL, CNM2, SH3P9
Ensembl: ENSG00000136717
RefSeq RNA: NM_001320632.2, NM_001320633.2, NM_001320634.1, NM_001320640.2, NM_001320641.2
RefSeq protein: NP_001307561.1, NP_001307562.1, NP_001307563.1, NP_001307569.1, NP_001307570.1

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].

Gene Ontology

Article

5 sections

Contents

Clinical significance
Interactions
References
Further reading
External links

Myc box-dependent-interacting protein 1, also known as Bridging Integrator-1 and Amphiphysin-2 is a protein that in humans is encoded by the 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.