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Aliases for BIN1 Gene

Aliases for BIN1 Gene

  • Bridging Integrator 1 2 3 4
  • Amphiphysin II 2 3 4
  • AMPHL 3 4 6
  • Box-Dependent Myc-Interacting Protein 1 3 4
  • Amphiphysin-Like Protein 3 4
  • Box Dependant MYC Interacting Protein 1 3
  • Myc Box-Dependent-Interacting Protein 1 3
  • AMPH2 3
  • SH3P9 3

External Ids for BIN1 Gene

Previous Symbols for BIN1 Gene

  • AMPHL

Summaries for BIN1 Gene

Entrez Gene Summary for BIN1 Gene

  • 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 ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Sep 2011]

GeneCards Summary for BIN1 Gene

BIN1 (Bridging Integrator 1) is a Protein Coding gene. Diseases associated with BIN1 include myopathy, centronuclear, autosomal recessive and intracranial abscess. Among its related pathways are Arf6 trafficking events and Delta508-CFTR traffic / ER-to-Golgi in CF. GO annotations related to this gene include protein heterodimerization activity and GTPase binding. An important paralog of this gene is AMPH.

UniProtKB/Swiss-Prot for BIN1 Gene

  • May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation

Gene Wiki entry for BIN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BIN1 Gene

Genomics for BIN1 Gene

Genomic Location for BIN1 Gene

Start:
127,048,023 bp from pter
End:
127,107,355 bp from pter
Size:
59,333 bases
Orientation:
Minus strand

Genomic View for BIN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BIN1 Gene

Regulatory Elements for BIN1 Gene

Transcription factor binding sites by QIAGEN in the BIN1 gene promoter:

Proteins for BIN1 Gene

  • Protein details for BIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00499-BIN1_HUMAN
    Recommended name:
    Myc box-dependent-interacting protein 1
    Protein Accession:
    O00499
    Secondary Accessions:
    • O00297
    • O00545
    • O43867
    • O60552
    • O60553
    • O60554
    • O60555
    • O75514
    • O75515
    • O75516
    • O75517
    • O75518
    • Q659B7
    • Q92944
    • Q99688

    Protein attributes for BIN1 Gene

    Size:
    593 amino acids
    Molecular mass:
    64699 Da
    Quaternary structure:
    • Heterodimer with AMPH. Binds SH3GLB1 (By similarity). Interacts (via SH3 domain) with SYNJ1. Interacts (via SH3 domain) with DNM1. Isoform IIA interacts with CLTC. Isoform IIB does not interact with CLTC. Isoform IIC1 does not interact with CLTC. Isoform IIC2 does not interact with CLTC. Interacts with AP2A2. Interacts with AP2B1. Interacts with MYC (via N-terminal transactivation domain); the interaction requires the integrity of the conserved MYC box regions 1 and 2. Interacts with BIN2. Interacts (SH3 domain) with HCV NS5A.
    SequenceCaution:
    • Sequence=AAC23441.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BIN1 Gene

    Alternative splice isoforms for BIN1 Gene

neXtProt entry for BIN1 Gene

Proteomics data for BIN1 Gene at MOPED

Post-translational modifications for BIN1 Gene

No data available for DME Specific Peptides for BIN1 Gene

Domains for BIN1 Gene

Suggested Antigen Peptide Sequences for BIN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00499

UniProtKB/Swiss-Prot:

BIN1_HUMAN
Domain:
  • Contains 1 BAR domain.:
    • O00499
  • Contains 1 SH3 domain.:
    • O00499
genes like me logo Genes that share domains with BIN1: view

No data available for Gene Families for BIN1 Gene

Function for BIN1 Gene

Molecular function for BIN1 Gene

UniProtKB/Swiss-Prot Function: May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation

Gene Ontology (GO) - Molecular Function for BIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10903846
GO:0032403 protein complex binding IEA --
GO:0042802 identical protein binding IPI 23917616
GO:0046982 protein heterodimerization activity IEA --
GO:0048156 tau protein binding IPI 23399914
genes like me logo Genes that share ontologies with BIN1: view
genes like me logo Genes that share phenotypes with BIN1: view

Animal Models for BIN1 Gene

MGI Knock Outs for BIN1:

miRNA for BIN1 Gene

miRTarBase miRNAs that target BIN1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for BIN1 Gene

Localization for BIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BIN1 Gene

Isoform BIN1: Nucleus.
Isoform IIA: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BIN1 Gene COMPARTMENTS Subcellular localization image for BIN1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 3
plasma membrane 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
GO:0008021 synaptic vesicle IEA --
GO:0015629 actin cytoskeleton TAS 9182667
GO:0016020 membrane IDA 16530520
genes like me logo Genes that share ontologies with BIN1: view

Pathways for BIN1 Gene

genes like me logo Genes that share pathways with BIN1: view

Pathways by source for BIN1 Gene

Gene Ontology (GO) - Biological Process for BIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0008283 cell proliferation TAS 8782822
GO:0016032 viral process IEA --
GO:0042692 muscle cell differentiation IEA --
GO:0043065 positive regulation of apoptotic process IMP 10412034
genes like me logo Genes that share ontologies with BIN1: view

Compounds for BIN1 Gene

(1) Novoseek inferred chemical compound relationships for BIN1 Gene

Compound -log(P) Hits PubMed IDs
estrogen 0 3
genes like me logo Genes that share compounds with BIN1: view

Transcripts for BIN1 Gene

Unigene Clusters for BIN1 Gene

Bridging integrator 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BIN1 Gene

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:

Relevant External Links for BIN1 Gene

GeneLoc Exon Structure for
BIN1
ECgene alternative splicing isoforms for
BIN1

Expression for BIN1 Gene

mRNA expression in normal human tissues for BIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BIN1 Gene

This gene is overexpressed in Muscle - Skeletal (15.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BIN1 Gene

SOURCE GeneReport for Unigene cluster for BIN1 Gene Hs.193163

mRNA Expression by UniProt/SwissProt for BIN1 Gene

O00499-BIN1_HUMAN
Tissue specificity: Ubiquitous. Highest expression in the brain and muscle. Isoform IIA is expressed only in the brain where it is concentrated in axon initial segments and nodes of Ranvier. Isoform BIN1 is widely expressed with highest expression in skeletal muscle.
genes like me logo Genes that share expressions with BIN1: view

Orthologs for BIN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BIN1 35
  • 99.66 (n)
  • 100 (a)
BIN1 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BIN1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BIN1 35
  • 92.66 (n)
  • 96.63 (a)
BIN1 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bin1 35
  • 90.61 (n)
  • 95.9 (a)
Bin1 16
Bin1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BIN1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 42 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Bin1 35
  • 90.73 (n)
  • 95.56 (a)
chicken
(Gallus gallus)
Aves BIN1 35
  • 74.68 (n)
  • 80.8 (a)
BIN1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BIN1 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia bin1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bin1 35
  • 72.12 (n)
  • 75.36 (a)
MGC76187 35
zebrafish
(Danio rerio)
Actinopterygii bin1 36
  • 60 (a)
OneToMany
BIN1 (1 of 2) 36
  • 53 (a)
OneToMany
LOC563561 35
  • 61.14 (n)
  • 56.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta Amph 36
  • 25 (a)
OneToMany
Amph 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea amph-1 36
  • 27 (a)
OneToMany
F58G6.1 37
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3172 36
  • 25 (a)
OneToMany
Species with no ortholog for BIN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BIN1 Gene

ENSEMBL:
Gene Tree for BIN1 (if available)
TreeFam:
Gene Tree for BIN1 (if available)

Paralogs for BIN1 Gene

Paralogs for BIN1 Gene

Selected SIMAP similar genes for BIN1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with BIN1: view

Variants for BIN1 Gene

Sequence variations from dbSNP and Humsavar for BIN1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs730294 -- 127,105,762(-) CCTTC(C/T)CCTGC intron-variant
rs730306 -- 127,049,029(-) CAAGT(C/G)GAAGT intron-variant
rs730471 -- 127,105,127(+) AGCCC(A/T)TGCCT intron-variant
rs731818 -- 127,067,050(-) tccgt(C/T)cccct intron-variant
rs734115 -- 127,100,370(+) GACAC(C/T)CCTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BIN1 Gene

Variant ID Type Subtype PubMed ID
nsv516759 CNV Loss 19592680
dgv4297n71 CNV Loss 21882294
nsv2911 CNV Insertion 18451855
dgv1245e1 CNV Complex 17122850
esv2720727 CNV Deletion 23290073
nsv10142 CNV Gain 18304495

Relevant External Links for BIN1 Gene

HapMap Linkage Disequilibrium report
BIN1
Human Gene Mutation Database (HGMD)
BIN1
Locus Specific Mutation Databases (LSDB)
BIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BIN1 Gene

Disorders for BIN1 Gene

(1) OMIM Diseases for BIN1 Gene (601248)

UniProtKB/Swiss-Prot

BIN1_HUMAN
  • Myopathy, centronuclear, 2 (CNM2) [MIM:255200]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. {ECO:0000269 PubMed:17676042}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for BIN1 Gene

(9) Novoseek inferred disease relationships for BIN1 Gene

Disease -log(P) Hits PubMed IDs
tumors 31.2 47
neoplastic transformation 29.6 1
prostate cancer 21.4 7
astrocytoma 19.1 6
breast cancer 13.5 13

Relevant External Links for BIN1

Genetic Association Database (GAD)
BIN1
Human Genome Epidemiology (HuGE) Navigator
BIN1
genes like me logo Genes that share disorders with BIN1: view

Publications for BIN1 Gene

  1. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. (PMID: 17676042) Nicot A.-S. … Laporte J. (Nat. Genet. 2007) 2 3 4 23
  2. The SH3 binding motif of HCV NS5A protein interacts with Bin1 and is important for apoptosis and infectivity. (PMID: 16530520) Nanda S.K. … Liang T.J. (Gastroenterology 2006) 3 4 23
  3. BIN1 is a novel Myc-interacting protein with features of a tumour suppressor. (PMID: 8782822) Sakamuro D. … Prendergast G.C. (Nat. Genet. 1996) 2 3 4
  4. Identification and characterization of a nerve terminal-enriched amphiphysin isoform. (PMID: 9195986) Ramjaun A.R. … McPherson P.S. (J. Biol. Chem. 1997) 3 4 23
  5. cDNA cloning of a novel amphiphysin isoform and tissue-specific expression of its multiple splice variants. (PMID: 9223448) Tsutsui K. … Tokunaga A. (Biochem. Biophys. Res. Commun. 1997) 3 4 23

Products for BIN1 Gene

  • Addgene plasmids for BIN1

Sources for BIN1 Gene

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