BIN1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Bridging integrator 1
Protein BIN1 PDB 1bb9.png
PDB rendering based on 1bb9.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols BIN1 ; AMPH2; AMPHL; SH3P9
External IDs OMIM601248 MGI108092 HomoloGene113707 GeneCards: BIN1 Gene
RNA expression pattern
PBB GE BIN1 210202 s at tn.png
PBB GE BIN1 202931 x at tn.png
PBB GE BIN1 210201 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 274 30948
Ensembl ENSG00000136717 ENSMUSG00000024381
UniProt O00499 O08539
RefSeq (mRNA) NM_004305 NM_001083334
RefSeq (protein) NP_004296 NP_001076803
Location (UCSC) Chr 2:
127.81 – 127.86 Mb
Chr 18:
32.38 – 32.44 Mb
PubMed search [1] [2]

Myc box-dependent-interacting protein 1 is a protein that in humans is encoded by the BIN1 gene.[1][2][3]

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.[4]

Interactions[edit]

BIN1 has been shown to interact with Phospholipase D1,[5] SNX4[6] and PLD2.[5]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ "Entrez Gene: BIN1 bridging integrator 1". 
  5. ^ 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. 
  6. ^ 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. 

Further reading[edit]