Homo sapiens Gene: BIN1
Summary
InnateDB Gene IDBG-68691.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BIN1
Gene Name bridging integrator 1
Synonyms AMPH2; AMPHL; SH3P9
Species Homo sapiens
Ensembl Gene ENSG00000136717
Encoded Proteins
bridging integrator 1
bridging integrator 1
bridging integrator 1
bridging integrator 1
bridging integrator 1
bridging integrator 1
bridging integrator 1
bridging integrator 1
bridging integrator 1
bridging integrator 1
bridging integrator 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:127048027-127107355
Strand Reverse strand
Band q14.3
Transcripts
ENST00000316724 ENSP00000316779
ENST00000357970 ENSP00000350654
ENST00000346226 ENSP00000315411
ENST00000351659 ENSP00000315388
ENST00000259238 ENSP00000259238
ENST00000352848 ENSP00000315284
ENST00000376113 ENSP00000365281
ENST00000348750 ENSP00000259237
ENST00000393041 ENSP00000376761
ENST00000393040 ENSP00000376760
ENST00000409400 ENSP00000386797
ENST00000462958
ENST00000466111
ENST00000484253
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:0032403 protein complex binding
GO:0042802 identical protein binding
GO:0046982 protein heterodimerization activity
GO:0048156 tau protein binding
GO:0051020 GTPase binding
Biological Process
GO:0006897 endocytosis
GO:0008283 cell proliferation
GO:0016032 viral process
GO:0042692 muscle cell differentiation
GO:0043065 positive regulation of apoptotic process
GO:0043547 positive regulation of GTPase activity
GO:0045664 regulation of neuron differentiation
GO:0045807 positive regulation of endocytosis
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:0008021 synaptic vesicle
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:0043196 varicosity
GO:0043679 axon terminus
GO:0044300 cerebellar mossy fiber
GO:0060987 lipid tube
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
p73 transcription factor network
Arf6 trafficking events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.193163
RefSeq NM_004305 NM_139343 NM_139344 NM_139345 NM_139346 NM_139347 NM_139348 NM_139349 NM_139350 NM_139351 XM_005263647 XM_005263648
HUGO
OMIM
CCDS CCDS2137 CCDS2138 CCDS2139 CCDS2140 CCDS2141 CCDS2142 CCDS2143 CCDS42743 CCDS42744 CCDS46403
HPRD 03150
IMGT
EMBL
GenPept
RNA Seq Atlas