• Gene id: 274

Gene Summary

• Gene Symbol: BIN1   Gene   UCSC   Ensembl
• Aliases: AMPH2, AMPHL, CNM2, SH3P9
• Gene name: bridging integrator 1
• Alternate names: myc box-dependent-interacting protein 1, amphiphysin II, amphiphysin-like protein, box dependant MYC interacting protein 1, box-dependent myc-interacting protein 1,
• Gene location: 2q14.3 (127107153: 127048022)     Exons: 22     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 612435

Protein Summary

• Protein general information: O00499  
  • Name: Myc box dependent interacting protein 1 (Amphiphysin II) (Amphiphysin like protein) (Box dependent myc interacting protein 1) (Bridging integrator 1)
  • Length: 593  
  • Mass: 64699
  • Tissue specificity: Ubiquitous. Highest expression in the brain and muscle (PubMed
• Sequence:

  MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTRLQKDLRTYLASVKAM
  HEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVDQALLTMDTYLGQFPDIKSRIAKRGRKLVDY
  DSARHHYESLQTAKKKDEAKIAKPVSLLEKAAPQWCQGKLQAHLVAQTNLLRNQAEEELIKAQKVFEEMNVDLQE
  ELPSLWNSRVGFYVNTFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPP
  DGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQLRKGPPVPPPPKHTPSKEVKQEQILSLFEDTFVPEISVTTP
  SQFEAPGPFSEQASLLDLDFDPLPPVTSPVKAPTPSGQSIPWDLWEPTESPAGSLPSGEPSAAEGTFAVSWPSQT
  AEPGPAQPAEASEVAGGTQPAAGAQEPGETAASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKV
  QAQHDYTATDTDELQLKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP

• Structural information:
  • Protein Domains: (29..27-)
    (/note="BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00361-)
    (520..59-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR003005  IPR035471  IPR003023  IPR004148   IPR036028  IPR001452  
  • Prosite: PS51021 PS50002
  • CDD: cd12139
  • PDB: 1MUZ 1MV0 1MV3 2FIC 2RMY 2RND 5I22
  • PDBsum: 1MUZ 1MV0 1MV3 2FIC 2RMY 2RND 5I22
  • DIP: 41480
  • STRING: ENSP00000316779
• Other Databases: GeneCards:  BIN1  Malacards:  BIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0005856	cytoskeleton	IDA	colocalizes with
GO:0005737	cytoplasm	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0002020	protease binding	IPI	molecular function
GO:0048156	tau protein binding	NAS	molecular function
GO:0048156	tau protein binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0007010	cytoskeleton organization	TAS	biological process
GO:0008333	endosome to lysosome transport	IMP	biological process
GO:0019828	aspartic-type endopeptidase inhibitor activity	IMP	molecular function
GO:1902960	negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IMP	biological process
GO:1904878	negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	biological process
GO:0030276	clathrin binding	TAS	molecular function
GO:1901380	negative regulation of potassium ion transmembrane transport	ISS	biological process
GO:0006897	endocytosis	TAS	biological process
GO:0006897	endocytosis	TAS	biological process
GO:1903946	negative regulation of ventricular cardiac muscle cell action potential	ISS	biological process
GO:0030315	T-tubule	ISS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:1902430	negative regulation of amyloid-beta formation	IMP	biological process
GO:0033292	T-tubule organization	ISS	biological process
GO:0030838	positive regulation of actin filament polymerization	ISS	biological process
GO:0086091	regulation of heart rate by cardiac conduction	ISS	biological process
GO:0005543	phospholipid binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0048156	tau protein binding	IBA	molecular function
GO:0033292	T-tubule organization	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030100	regulation of endocytosis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0070063	RNA polymerase binding	IPI	molecular function
GO:0070063	RNA polymerase binding	IPI	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006997	nucleus organization	IMP	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0033292	T-tubule organization	IEA	biological process
GO:0048156	tau protein binding	IEA	molecular function
GO:0051647	nucleus localization	IEA	biological process
GO:1902960	negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IEA	biological process
GO:1903946	negative regulation of ventricular cardiac muscle cell action potential	IEA	biological process
GO:1904878	negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0019828	aspartic-type endopeptidase inhibitor activity	IEA	molecular function
GO:0030838	positive regulation of actin filament polymerization	IEA	biological process
GO:0042692	muscle cell differentiation	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0086091	regulation of heart rate by cardiac conduction	IEA	biological process
GO:1901380	negative regulation of potassium ion transmembrane transport	IEA	biological process
GO:1902430	negative regulation of amyloid-beta formation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0048156	tau protein binding	IPI	molecular function
GO:0030424	axon	IDA	cellular component
GO:0030315	T-tubule	ISS	cellular component
GO:0031674	I band	ISS	cellular component
GO:0033268	node of Ranvier	ISS	cellular component
GO:0060987	lipid tube	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0030018	Z disc	ISS	cellular component
GO:0043194	axon initial segment	ISS	cellular component
GO:0071156	regulation of cell cycle arrest	IDA	biological process
GO:0045664	regulation of neuron differentiation	IMP	biological process
GO:0048711	positive regulation of astrocyte differentiation	IMP	biological process
GO:0060988	lipid tube assembly	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04666	Fc gamma R-mediated phagocytosis

Diseases

Associated diseases	References
Centronuclear myopathy	KEGG:H00700
Centronuclear myopathy	KEGG:H00700
prostate adenocarcinoma	PMID:12532338
Breast carcinoma	PMID:10652430
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq