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BIN1

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BIN1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesBIN1, AMPH2, AMPHL, SH3P9, bridging integrator 1, CNM2
External IDsOMIM: 601248; MGI: 108092; HomoloGene: 113707; GeneCards: BIN1; OMA:BIN1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

274

30948

Ensembl

ENSG00000136717

ENSMUSG00000024381

UniProt

O00499

O08539

RefSeq (mRNA)

NM_001083334
NM_009668
NM_001360876

RefSeq (protein)

NP_001076803
NP_033798
NP_001347805

Location (UCSC)Chr 2: 127.05 – 127.11 MbChr 18: 32.51 – 32.57 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myc box-dependent-interacting protein 1, also known as Bridging Integrator-1 and Amphiphysin-2 is a protein that in humans is encoded by the BIN1 gene.[5][6][7]

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.[8]

Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process.[8]

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.[8]

Clinical significance

In humans, mutations in BIN1 have been associated with skeletal myopathies including centronuclear myopathy causing muscle weakness[7] and myotonic dystrophy causing progressive muscle wasting, myotonia, cataracts, and heart conduction defects.[9] An association has also been found between BIN1 mutations and Alzheimer's disease.[9] Knockdown of BIN1 produces a cardiomyopathy phenotype in zebrafish,[10] and in sheep BIN1 may be responsible for the loss of T-tubules seen in heart failure.[11]

Interactions

BIN1 has been shown to interact with Phospholipase D1,[12] SNX4[13] and PLD2.[12]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136717 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024381 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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. S2CID 21484402.
  7. ^ a b 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. S2CID 16861439.
  8. ^ a b c "Entrez Gene: BIN1 bridging integrator 1".
  9. ^ a b Prokic I, Cowling BS, Laporte J (May 2014). "Amphiphysin 2 (BIN1) in physiology and diseases". Journal of Molecular Medicine. 92 (5): 453–463. doi:10.1007/s00109-014-1138-1. ISSN 1432-1440. PMID 24590001. S2CID 14038898.
  10. ^ Hong TT, Smyth JW, Chu KY, Vogan JM, Fong TS, Jensen BC, Fang K, Halushka MK, Russell SD (May 2012). "BIN1 is reduced and Cav1.2 trafficking is impaired in human failing cardiomyocytes". Heart Rhythm. 9 (5): 812–820. doi:10.1016/j.hrthm.2011.11.055. ISSN 1556-3871. PMC 3306544. PMID 22138472.
  11. ^ Caldwell JL, Smith CE, Taylor RF, Kitmitto A, Eisner DA, Dibb KM, Trafford AW (2014-12-05). "Dependence of cardiac transverse tubules on the BAR domain protein amphiphysin II (BIN-1)". Circulation Research. 115 (12): 986–996. doi:10.1161/CIRCRESAHA.116.303448. ISSN 1524-4571. PMC 4274343. PMID 25332206.
  12. ^ 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. 275 (25): 18751–8. doi:10.1074/jbc.M001695200. ISSN 0021-9258. PMID 10764771.
  13. ^ Leprince C, 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. 116 (Pt 10): 1937–48. doi:10.1242/jcs.00403. ISSN 0021-9533. PMID 12668730.

Further reading

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