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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 dynamin, 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 several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
BIN1 (Bridging Integrator 1) is a Protein Coding gene. Diseases associated with BIN1 include Myopathy, Centronuclear, 2 and Myopathy, Centronuclear, 1. Among its related pathways are Neuroscience and Fc gamma R-mediated phagocytosis. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is AMPH.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IPI | 27179792 |
GO:0005515 | protein binding | IPI | 10903846 |
GO:0005543 | phospholipid binding | IBA | 21873635 |
GO:0019828 | aspartic-type endopeptidase inhibitor activity | IMP | 27179792 |
GO:0030276 | clathrin binding | TAS | 25051234 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 25051234 |
GO:0005635 | nuclear envelope | IEA | -- |
GO:0005737 | cytoplasm | IDA | 25051234 |
GO:0005768 | endosome | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | Delta508-CFTR traffic / ER-to-Golgi in CF |
Transport Clathrin-coated vesicle cycle
.32
|
wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
.31
|
3 | Neuroscience | ||
4 | Endocytosis | ||
5 | Fc gamma R-mediated phagocytosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006897 | endocytosis | TAS | 23399914 |
GO:0006997 | nucleus organization | IMP | 26506308 |
GO:0007010 | cytoskeleton organization | TAS | 23399914 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0008333 | endosome to lysosome transport | IMP | 27179792 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | · | 20c | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP16: |
ExUns: | 21a | · | 21b | ^ | 22a | · | 22b |
---|---|---|---|---|---|---|---|
SP1: | - | ||||||
SP2: | - | ||||||
SP3: | - | ||||||
SP4: | - | ||||||
SP5: | - | ||||||
SP6: | - | ||||||
SP7: | - | ||||||
SP8: | - | ||||||
SP9: | - | ||||||
SP10: | - | ||||||
SP11: | - | ||||||
SP12: | |||||||
SP13: | |||||||
SP14: | - | ||||||
SP15: | - | ||||||
SP16: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BIN1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BIN1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BIN1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bin1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Bin1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BIN1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | BIN1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BIN1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bin1 30 |
|
||
MGC76187 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | bin1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC563561 30 |
|
||
bin1 31 |
|
OneToMany | |||
BIN1 (1 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Amph 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | F58G6.1 32 |
|
|
|
amph-1 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3172 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
641194 | Uncertain Significance: Autosomal recessive centronuclear myopathy | 127,070,809(-) | C/A | MISSENSE_VARIANT | |
641518 | Uncertain Significance: Autosomal recessive centronuclear myopathy | 127,053,997(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
648328 | Uncertain Significance: Autosomal recessive centronuclear myopathy | 127,053,939(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
648561 | Uncertain Significance: Autosomal recessive centronuclear myopathy | 127,050,833(-) | C/T | MISSENSE_VARIANT | |
655134 | Uncertain Significance: Autosomal recessive centronuclear myopathy | 127,068,983(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4064n100 | CNV | gain | 25217958 |
dgv4065n100 | CNV | gain | 25217958 |
dgv4066n100 | CNV | gain | 25217958 |
esv2720727 | CNV | deletion | 23290073 |
esv2759090 | CNV | gain | 17122850 |
nsv1001064 | CNV | loss | 25217958 |
nsv1005149 | CNV | gain | 25217958 |
nsv10142 | CNV | gain | 18304495 |
nsv2911 | CNV | insertion | 18451855 |
nsv516759 | CNV | loss | 19592680 |
nsv583032 | CNV | loss | 21841781 |
nsv583033 | CNV | loss | 21841781 |
nsv583034 | CNV | loss | 21841781 |
nsv583035 | CNV | loss | 21841781 |
nsv954812 | CNV | deletion | 24416366 |
nsv999422 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, centronuclear, 2 |
|
|
myopathy, centronuclear, 1 |
|
|
centronuclear myopathy |
|
|
myopathy |
|
|
myopathy, centronuclear, x-linked |
|
|