Homo sapiens Protein: BIN1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-68697.7 | ||||||||||||||||||||||
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 | ENSP00000315411 | ||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001452
SH3 domain IPR003005 Amphiphysin IPR003023 Amphiphysin, isoform 2 IPR004148 BAR domain IPR011511 Variant SH3 domain |
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PFAM |
PF00018
PF14604 PF03114 PF07653 |
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PRINTS |
PR00452
PR01251 PR01253 |
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PIRSF | |||||||||||||||||||||||
SMART |
SM00326
SM00721 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O00499 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O00499 | ||||||||||||||||||||||
TrEMBL | A0A024RAF0 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 274 | ||||||||||||||||||||||
UniGene | Hs.193163 | ||||||||||||||||||||||
RefSeq | NP_647597 | ||||||||||||||||||||||
HUGO | HGNC:1052 | ||||||||||||||||||||||
OMIM | 601248 | ||||||||||||||||||||||
CCDS | CCDS2142 | ||||||||||||||||||||||
HPRD | 03150 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC012508 AF001383 AF004015 AF043898 AF043899 AF043900 AF043901 AF068914 AF068915 AF068916 AF068917 AF068918 AF070576 AL713697 CH471103 U68485 U83999 U84001 U84002 U84003 U84004 U87558 | ||||||||||||||||||||||
GenPept | AAB61363 AAB63263 AAC17461 AAC23440 AAC23441 AAC23750 AAC23751 AAC24126 AAC24127 AAC24128 AAC28646 AAC39710 AAC39711 AAC39712 AAC39713 AAC51345 AAY24328 CAD28496 EAW95288 EAW95298 EAW95302 | ||||||||||||||||||||||