BIN1

BIN1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1MUZ, 1MV0, 1MV3, 2FIC, 2RMY, 2RND, 5I22
Identifiers
Aliases	BIN1, AMPH2, AMPHL, SH3P9, bridging integrator 1, CNM2
External IDs	OMIM: 601248; MGI: 108092; HomoloGene: 113707; GeneCards: BIN1; OMA:BIN1 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	127,107,288 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	32,568,790 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; muscle of thigh; ; Skeletal muscle tissue of rectus abdominis; ; tibialis anterior muscle; ; glutes; ; quadriceps femoris muscle; ; vastus lateralis muscle; ; triceps brachii muscle; ; thoracic diaphragm; ; deltoid muscle;
	Top expressed in
	muscle of thigh; ; triceps brachii muscle; ; temporal muscle; ; extensor digitorum longus muscle; ; sternocleidomastoid muscle; ; plantaris muscle; ; medial head of gastrocnemius muscle; ; neural layer of retina; ; skeletal muscle tissue; ; digastric muscle;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	protein binding; RNA polymerase binding; identical protein binding; tau protein binding; actin filament binding; protease binding; phospholipid binding; clathrin binding; chaperone binding;
Cellular component	cytoplasm; membrane; I band; T-tubule; lipid tube; node of Ranvier; axon; Z discdkac; actin cytoskeleton; axon initial segment; nucleus; nuclear envelope; cytosol; endosome; cytoskeleton; plasma membrane; synaptic vesicle; sarcolemma; synapse;
Biological process	regulation of endocytosis; regulation of neuron differentiation; cell differentiation; endocytosis; positive regulation of astrocyte differentiation; multicellular organism development; muscle cell differentiation; positive regulation of apoptotic process; lipid tube assembly; cell population proliferation; viral process; nucleus localization; nucleus organization; membrane organization; cytoskeleton organization; endosome to lysosome transport; positive regulation of actin filament polymerization; T-tubule organization; regulation of heart rate by cardiac conduction; negative regulation of potassium ion transmembrane transport; negative regulation of amyloid-beta formation; negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process; negative regulation of ventricular cardiac muscle cell action potential; negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;
	Sources:Amigo / QuickGO
Orthologs
	274
	30948
	ENSG00000136717
	ENSMUSG00000024381
	O00499
	O08539
NM_004305; NM_139343; NM_139344; NM_139345; NM_139346;
	NM_139347; NM_139348; NM_139349; NM_139350; NM_139351; NM_001320632; NM_001320633; NM_001320634; NM_001320640; NM_001320641; NM_001320642
	NM_001083334; NM_009668; NM_001360876
NP_001307561; NP_001307562; NP_001307563; NP_001307569; NP_001307570;
	NP_001307571; NP_004296; NP_647593; NP_647594; NP_647595; NP_647596; NP_647597; NP_647598; NP_647599; NP_647600; NP_647601; NP_647601.1; NP_001307561.1
	NP_001076803; NP_033798; NP_001347805
	Wikidata
View/Edit Human	View/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]

Template:PBB Summary

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.^[8] An association has also been found between BIN1 mutations and Alzheimer's disease ^[8] and with cognitive decline. ^[9] Knockdown of BIN1 in 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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000136717 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024381 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^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.
^ ^a ^b Prokic, Ivana; Cowling, Belinda S.; Laporte, Jocelyn (May 2014). "Amphiphysin 2 (BIN1) in physiology and diseases". Journal of Molecular Medicine (Berlin, Germany). 92 (5): 453–463. doi:10.1007/s00109-014-1138-1. ISSN 1432-1440. PMID 24590001.
^ Vivot, A; Glymour, M M; Tzourio, C; Amouyel, P; Chêne, G; Dufouil, C (2015-06-02). "Association of Alzheimer's related genotypes with cognitive decline in multiple domains: results from the Three-City Dijon study". Molecular Psychiatry. 20 (10): 1173–1178. doi:10.1038/mp.2015.62. ISSN 1359-4184.
^ Hong, Ting-Ting; Smyth, James W.; Chu, Kevin Y.; Vogan, Jacob M.; Fong, Tina S.; Jensen, Brian C.; Fang, Kun; Halushka, Marc K.; Russell, Stuart D. (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.
^ Caldwell, Jessica L.; Smith, Charlotte E. R.; Taylor, Rebecca F.; Kitmitto, Ashraf; Eisner, David A.; Dibb, Katharine M.; Trafford, Andrew W. (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.
^ ^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). UNITED STATES: 18751–8. doi:10.1074/jbc.M001695200. ISSN 0021-9258. PMID 10764771. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)CS1 maint: unflagged free DOI (link)
^ 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. 116 (Pt 10). England: 1937–48. doi:10.1242/jcs.00403. ISSN 0021-9533. PMID 12668730. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)

External links

Human BIN1 genome location and BIN1 gene details page in the UCSC Genome Browser.

Template:PBB Controls

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000136717 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid8725406-5] 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.

[pmid8782822-6] 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.

[pmid17676042-7] 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.

[:0-8] Prokic, Ivana; Cowling, Belinda S.; Laporte, Jocelyn (May 2014). "Amphiphysin 2 (BIN1) in physiology and diseases". Journal of Molecular Medicine (Berlin, Germany). 92 (5): 453–463. doi:10.1007/s00109-014-1138-1. ISSN 1432-1440. PMID 24590001.

[9] Vivot, A; Glymour, M M; Tzourio, C; Amouyel, P; Chêne, G; Dufouil, C (2015-06-02). "Association of Alzheimer's related genotypes with cognitive decline in multiple domains: results from the Three-City Dijon study". Molecular Psychiatry. 20 (10): 1173–1178. doi:10.1038/mp.2015.62. ISSN 1359-4184.

[10] Hong, Ting-Ting; Smyth, James W.; Chu, Kevin Y.; Vogan, Jacob M.; Fong, Tina S.; Jensen, Brian C.; Fang, Kun; Halushka, Marc K.; Russell, Stuart D. (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, Jessica L.; Smith, Charlotte E. R.; Taylor, Rebecca F.; Kitmitto, Ashraf; Eisner, David A.; Dibb, Katharine M.; Trafford, Andrew W. (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.

[pmid10764771-12] 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). UNITED STATES: 18751–8. doi:10.1074/jbc.M001695200. ISSN 0021-9258. PMID 10764771. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)CS1 maint: unflagged free DOI (link)

[pmid12668730-13] 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. 116 (Pt 10). England: 1937–48. doi:10.1242/jcs.00403. ISSN 0021-9533. PMID 12668730. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]

[12]

[13]

Clinical significance

Interactions

References

Further reading

External links