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].

via MyGene.info

Gene · Ensembl

bridging integrator 1

Symbol

BIN1

Biotype

Protein coding

Organism

Homo sapiens

Location

2:127,048,017-127,107,556

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Image

Protein BIN1 PDB 1bb9.png

via Wikidata · CC0