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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 01 Jul 2015.

Bridging integrator 1

Bin1, amphiphysin II, amphiphysin 2
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] (from NCBI)
Top mentioned proteins: Amphiphysin, Clusterin, apolipoprotein E, Dynamin I, HAD
Papers using Bin1 antibodies
Colocalization of fluorescent markers in confocal microscope images of plant cells.
Supplier
Chien Kenneth R., In PLoS Biology, 2007
... Human BIN1 (Isotype 8) cDNA was obtained from Origene.
Papers on Bin1
Rare coding mutations identified by sequencing of Alzheimer's disease GWAS loci.
New
Mayeux et al., New York City, United States. In Ann Neurol, 23 Jul 2015
METHODS: We conducted targeted sequencing of ABCA7, BIN1, CD2AP, CLU, CR1, EPHA1, MS4A4A/MS4A6A and PICALM in three independent LOAD cohorts: 176 patients from 124 Caribbean Hispanics families, 120 patients and 33 unaffected individuals from the 129 NIA-LOAD Family Study; and 263 unrelated Canadian individuals of European ancestry (210 sporadic patients and 53 controls).
Association of Alzheimer's related genotypes with cognitive decline in multiple domains: results from the Three-City Dijon study.
New
Dufouil et al., Bordeaux, France. In Mol Psychiatry, 02 Jul 2015
We evaluated the associations of polymorphisms in APOE, CR1, BIN1, CLU, PICALM, ABCA7, MS4A6A, CD33, MS4A4E and CD2AP with level and change in 5 neuropsychological tests, assuming a dominant effect model.
A genetic relationship between nitrogen use efficiency and seedling root traits in maize as revealed by QTL analysis.
New
Yuan et al., Beijing, China. In J Exp Bot, 30 Jun 2015
Five important QTLs clusters at the chromosomal regions bin1.04,
Alzheimer's loci: epigenetic associations and interaction with genetic factors.
New
De Jager et al., Chicago, United States. In Ann Clin Transl Neurol, 30 Jun 2015
RESULTS: Six genes regions (17 CpGs) showed evidence of CpG associations with NP, independent of genetic variation - BIN1 (5), CLU (5), MS4A6A (3), ABCA7 (2), CD2AP (1), and APOE (1).
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
New
D'Amico et al., Roma, Italy. In J Neurol, 10 Jun 2015
All selected patients were screened for the four 'canonical' genes related to CNMs: MTM1, DNM2, RYR1 and BIN1.
Cardiac BIN1 folds T-tubule membrane, controlling ion flux and limiting arrhythmia.
New
Impact
Shaw et al., Los Angeles, United States. In Nat Med, Jun 2014
Bridging integrator 1 (BIN1) is a T-tubule protein associated with calcium channel trafficking that is downregulated in failing hearts.
Amphiphysin 2 (BIN1) in physiology and diseases.
Review
New
Laporte et al., Illkirch-Graffenstaden, France. In J Mol Med (berl), May 2014
Amphiphysin 2, also named bridging integrator-1 (BIN1) or SH3P9, has been recently implicated in rare and common diseases affecting different tissues and physiological functions.
Genetics of Alzheimer's disease.
Review
Seshadri et al., Boston, United States. In Adv Genet, 2013
These loci are in or near-novel AD genes including BIN1, CR1, CLU, phosphatidylinositol-binding clathrin assembly protein (PICALM), CD33, EPHA1, MS4A4/MS4A6, ABCA7, CD2AP, SORL1, HLA-DRB5/DRB1, PTK2B, SLC24A4-RIN3, INPP5D, MEF2C, NME8, ZCWPW1, CELF1, FERMT2, CASS4, and TRIP4 and each has small effects on risk of AD (relative risks of 1.1-1.3).
Late-Onset Alzheimer's Disease Genes and the Potentially Implicated Pathways.
Review
Kamboh et al., Pittsburgh, United States. In Curr Genet Med Rep, 2013
In addition to APOE, recent large genome-wide association studies have identified variation in over 20 loci that contribute to disease risk: CR1, BIN1, INPP5D, MEF2C, TREM2, CD2AP, HLA-DRB1/HLA-DRB5, EPHA1, NME8, ZCWPW1, CLU, PTK2B, PICALM, SORL1, CELF1, MS4A4/MS4A6E, SLC24A4/RIN3,FERMT2, CD33, ABCA7, CASS4.
Pathogenic mechanisms in centronuclear myopathies.
Review
Gautel et al., London, United Kingdom. In Front Aging Neurosci, 2013
The most common forms of congenital myopathies with central nuclei have been attributed to X-linked recessive mutations in the MTM1 gene encoding myotubularin ("X-linked myotubular myopathy"), autosomal-dominant mutations in the DNM2 gene encoding dynamin-2 and the BIN1 gene encoding amphiphysin-2 (also named bridging integrator-1, BIN1, or SH3P9), and autosomal-recessive mutations in BIN1, the RYR1 gene encoding the skeletal muscle ryanodine receptor, and the TTN gene encoding titin.
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
Impact
Alzheimer Disease Genetics Consortium et al., New York City, United States. In Jama, 2013
Several loci previously associated with Alzheimer disease but not reaching significance in genome-wide analyses were replicated in gene-based analyses accounting for linkage disequilibrium between markers and correcting for number of tests performed per gene (CR1, BIN1, EPHA1, CD33; 0.0005 < empirical P < .001).
Bin1 attenuation suppresses experimental colitis by enforcing intestinal barrier function.
GeneRIF
Prendergast et al., United States. In Dig Dis Sci, 2012
Bin1 is a genetic modifier of colitis that controls the paracellular pathway of transcellular ion transport regulated by cellular tight junctions.
Epigenetic inactivation of the tumor suppressor BIN1 drives proliferation of SNF5-deficient tumors.
GeneRIF
Roberts et al., Boston, United States. In Cell Cycle, 2012
The re-expression of BIN1 specifically compromises the proliferation of SNF5-deficient rhabdoid tumors cell lines.
Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory.
GeneRIF
National Institute on Aging Late-Onset Alzheimer's Disease Genetics Study et al., New York City, United States. In Neurology, 2012
The SNP genotype pattern at the BIN1 gene is associated with episodic memory.
Characterization of bridging integrator 1 (BIN1) as a potential tumor suppressor and prognostic marker in hepatocellular carcinoma.
GeneRIF
Xia et al., Guangzhou, China. In Mol Med, 2011
BIN1 expression is significantly decreased in surgically excised hepatocellular carcinoma patient specimens as well as in HCC cell lines and decreased BIN1 expression correlates with the degree of differentiation of HCC and predicts poor prognosis.
The genetics of Alzheimer's disease.
Review
Barber, Fort Worth, United States. In Scientifica (cairo), 2011
Examples that have been confirmed by multiple studies include ABCA7, APOE, BIN1, CD2AP, CD33, CLU, CR1, EPHA1, MS4A4A/MS4A4E/MS4A6E, PICALM, and SORL1.
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
Impact
GeneRIF
Charlet-Berguerand et al., Illkirch-Graffenstaden, France. In Nat Med, 2011
alternative splicing associated with T tubule alterations and muscle weakness in myotonic dystrophy
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
Impact
Schellenberg et al., Miami, United States. In Nat Genet, 2011
We also replicated previous associations at CR1 (rs6701713; P(M) = 4.6 × 10(-10), P(J) = 5.2 × 10(-11)), CLU (rs1532278; P(M) = 8.3 × 10(-8), P(J) = 1.9 × 10(-8)), BIN1 (rs7561528; P(M) = 4.0 × 10(-14), P(J) = 5.2 × 10(-14)) and PICALM (rs561655; P(M) = 7.0 × 10(-11), P(J) = 1.0 × 10(-10)), but not at EXOC3L2, to late-onset Alzheimer's disease susceptibility.
Disrupted membrane structure and intracellular Ca²⁺ signaling in adult skeletal muscle with acute knockdown of Bin1.
GeneRIF
Ma et al., United States. In Plos One, 2010
Study showing the importance of Bin1 in the maintenance of intact t-tubule structure and ([Ca(2)]i) homeostasis in adult skeletal muscle could provide insight on the potential role of Bin1 in skeletal muscle contractility and pathology of myopathy.
Genome-wide analysis of genetic loci associated with Alzheimer disease.
Impact
EADI1 Consortium et al., Boston, United States. In Jama, 2010
RESULTS: Two loci were identified to have genome-wide significance for the first time: rs744373 near BIN1 (odds ratio [OR],1.13;
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