InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BIN1

Summary

InnateDB Protein

IDBP-68705.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BIN1

Protein Name

bridging integrator 1

Synonyms

AMPH2; AMPHL; SH3P9;

Species

Homo sapiens

Ensembl Protein

ENSP00000365281

InnateDB Gene

IDBG-68691 (BIN1)

Protein Structure

UniProt Annotation

Function

May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation.

Subcellular Localization

Isoform BIN1: Nucleus.Isoform IIA: Cytoplasm.

Disease Associations

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. {ECO:0000269PubMed:17676042}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:10903846}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 51 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	51 [view]
Protein-Protein	49 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0042802	identical protein binding
GO:0048156	tau protein binding

Biological Process

GO:0006897	endocytosis
GO:0008283	cell proliferation
GO:0016032	viral process
GO:0043065	positive regulation of apoptotic process
GO:0045664	regulation of neuron differentiation
GO:0048711	positive regulation of astrocyte differentiation
GO:0060988	lipid tube assembly
GO:0071156	regulation of cell cycle arrest

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0015629	actin cytoskeleton
GO:0030018	Z disc
GO:0030315	T-tubule
GO:0030424	axon
GO:0031674	I band
GO:0033268	node of Ranvier
GO:0043194	axon initial segment
GO:0060987	lipid tube