TAG for BIN1

Gene content

Symbol

BIN1 ( by HUGO)

Name

Bridging Integrator 1

Category

Tumor suppressor gene

Alias

Bridging Integrator 1
AMPHL
Amphiphysin II
Amphiphysin-Like Protein
Box-Dependent Myc-Interacting Protein 1
AMPH2
SH3P9
Box Dependant MYC Interacting Protein 1
Myc Box-Dependent-Interacting Protein 1

Cytogenetic band

NCBI: 2q14 Ensembl: 2q14.3

Protein information

BIN1_HUMAN

Size: 593 amino acids

Mass: 64699 Da

Subunit: Heterodimer with AMPH. Binds SH3GLB1 (By similarity). Interacts (via SH3 domain) with SYNJ1. Interacts (via SH3 domain) with DNM1. Isoform IIA interacts with CLTC. Isoform IIB does not interact with CLTC. Isoform IIC1 does not interact with CLTC. Isoform IIC2 does not interact with CLTC. Interacts with AP2A2. Interacts with AP2B1. Interacts with MYC (via N-terminal transactivation domain); the interaction requires the integrity of the conserved MYC box regions 1 and 2. Interacts with BIN2. Interacts (SH3 domain) with HCV NS5A Sequence caution: Sequence=AAC23441.1; Type=Erroneous initiation; Note=Translation N-terminally extended; 6 PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for BIN1: 1MUZ (3D) [IMAGE] 1MV0 (3D) [IMAGE] 1MV3 (3D) [IMAGE] 2FIC (3D) [IMAGE] 2RMY (3D) [IMAGE] 2RND (3D) [IMAGE]

Tissue specificity: Ubiquitous. Highest expression in the brain and muscle. Isoform IIA is expressed only in the brain where it is concentrated in axon initial segments and nodes of Ranvier. Isoform BIN1 is widely expressed with highest expression in skeletal muscle [IMAGE]

Function:

UniProtKB/Swiss-Prot Summary: BIN1_HUMAN, O00499 Function: May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation Gene Ontology (GO): Selected molecular function terms (see all 6): About this table GO ID Qualified GO term Evidence PubMed IDs GO:0005515 protein binding IPI 10903846 GO:0032403 protein complex binding IEA -- GO:0042802 identical protein binding IPI -- GO:0046982 protein heterodimerization activity IEA -- GO:0048156 tau protein binding IPI -- [IMAGE] Find genes that share ontologies with BIN1 About GenesLikeMe Phenotypes: 3 GenomeRNAi human phenotypes for BIN1: Enable proliferation in B-Raf Increased S DNA content Increased cell death in breast

Similarity:

Contains 1 BAR domain

Contains 1 SH3 domain [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR001452	SH3_domain	SH3	Domain
	IPR003005	Amphiphysin	Amphiphysin	Family
	IPR003023	Amphiphysin_2	Amphiphysin, isoform 2	Family
	IPR004148	BAR_dom	BAR	Domain
Blocks	IPB001452	SH3 domain signature	SH3 domain signature
	IPB003005	Amphiphysin signature	Amphiphysin signature
	IPB003023	Amphiphysin isoform 2 signature	Amphiphysin isoform 2 signature

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	cell proliferation	TAS	GOA	8782822
	lipid tube assembly	IMP	GOA	19004523
	positive regulation of apoptotic process	IMP	GOA	10412034
	positive regulation of astrocyte differentiation	IMP	GOA	10412034
	regulation of cell cycle arrest	IDA	GOA	10412034
	regulation of neuron differentiation	IMP	GOA	10412034
Cellular Component	actin cytoskeleton	TAS	GOA	9182667
Cellular Component	lipid tube	IMP	GOA	19004523
Molecular Function	protein binding	IPI	GOA	10903846

Disorder & Mutation
Source	Disease
SWISS-PROT	Myopathy, centronuclear, 2 (CNM2) [MIM:255200]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Note=The disease is caused by mutations affecting the gene represented in this entry

BIN1 cross reference