BIN1

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BIN1
Protein BIN1 PDB 1bb9.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases BIN1, AMPH2, AMPHL, SH3P9, bridging integrator 1
External IDs MGI: 108092 HomoloGene: 113707 GeneCards: BIN1
Genetically Related Diseases
Alzheimer's disease[1]
RNA expression pattern
PBB GE BIN1 202931 x at fs.png

PBB GE BIN1 210201 x at fs.png

PBB GE BIN1 210202 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001083334
NM_009668

RefSeq (protein)

NP_033798.1
NP_001076803
NP_033798

Location (UCSC) Chr 2: 127.05 – 127.11 Mb Chr 18: 32.38 – 32.44 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Myc box-dependent-interacting protein 1 is a protein that in humans is encoded by the BIN1 gene.[4][5][6]

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 dynanim, 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.[7]

Interactions[edit]

BIN1 has been shown to interact with Phospholipase D1,[8] SNX4[9] and PLD2.[8]

References[edit]

  1. ^ "Diseases that are genetically associated with BIN1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ Negorev D, Riethman H, Wechsler-Reya R, Sakamuro D, Prendergast GC, Simon D (January 1997). "The Bin1 gene localizes to human chromosome 2q14 by PCR analysis of somatic cell hybrids and fluorescence in situ hybridization". Genomics. 33 (2): 329–31. doi:10.1006/geno.1996.0205. PMID 8725406. 
  5. ^ Sakamuro D, Elliott KJ, Wechsler-Reya R, Prendergast GC (October 1996). "BIN1 is a novel MYC-interacting protein with features of a tumour suppressor". Nat Genet. 14 (1): 69–77. doi:10.1038/ng0996-69. PMID 8782822. 
  6. ^ Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J (August 2007). "Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy". Nat Genet. 39 (9): 1134–9. doi:10.1038/ng2086. PMID 17676042. 
  7. ^ "Entrez Gene: BIN1 bridging integrator 1". 
  8. ^ a b Lee, C; Kim S R; Chung J K; Frohman M A; Kilimann M W; Rhee S G (June 2000). "Inhibition of phospholipase D by amphiphysins". J. Biol. Chem. UNITED STATES. 275 (25): 18751–8. doi:10.1074/jbc.M001695200. ISSN 0021-9258. PMID 10764771. 
  9. ^ Leprince, Corinne; Le Scolan Erwan; Meunier Brigitte; Fraisier Vincent; Brandon Nathalie; De Gunzburg Jean; Camonis Jacques (May 2003). "Sorting nexin 4 and amphiphysin 2, a new partnership between endocytosis and intracellular trafficking". J. Cell. Sci. England. 116 (Pt 10): 1937–48. doi:10.1242/jcs.00403. ISSN 0021-9533. PMID 12668730. 

External links[edit]

Further reading[edit]