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    BIN1 bridging integrator 1 [ Homo sapiens ]

    Gene ID: 274, updated on 11-May-2012
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    Summary

    Official Symbol
    BIN1provided by HGNC
    Official Full Name
    bridging integrator 1provided by HGNC
    Primary source
    HGNC:1052
    See related
    Ensembl:ENSG00000136717; HPRD:03150; MIM:601248; Vega:OTTHUMG00000131465
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AMPH2; AMPHL; SH3P9; MGC10367; DKFZp547F068
    Summary
    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]
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    Genomic context

    Location :
    2q14
    Sequence :
    Chromosome: 2; NC_000002.11 (127805607..127864864, complement)
    See BIN1 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene glycophorin C (Gerbich blood group) Neighboring gene uncharacterized LOC339760 Neighboring gene cytochrome P450, family 27, subfamily C, polypeptide 1 Neighboring gene WW domain binding protein 11 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Disrupted membrane structure and intracellular Ca²⁺ signaling in adult skeletal muscle with acute knockdown of Bin1. Tjondrokoesoemo A, et al. PLoS One, 2011. PMID 21984944.
    2. Identification of a novel effector domain of BIN1 for cancer suppression. Lundgaard GL, et al. J Cell Biochem, 2011 Oct. PMID 21678469.
    3. The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. Antúnez C, et al. Genome Med, 2011 May 31. PMID 21627779.
    4. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Fugier C, et al. Nat Med, 2011 Jun. PMID 21623381.
    5. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Naj AC, et al. Nat Genet, 2011 May. PMID 21460841.

    See all (100) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Results suggest that the coiled-coil BIN1 BAR peptide encodes a novel BIN1 MID domain, through which BIN1 acts as a MYC-independent cancer suppressor.
      Title: Identification of a novel effector domain of BIN1 for cancer suppression.
    2. variants in BIN1, CLU, CR1 or PICALM are associated with changes in the CSF levels of biomarkers
      Title: Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease.
    3. Study showing the importance of Bin1 in the maintenance of intact t-tubule structure and ([Ca(2)]i) homeostasis in adult skeletal muscle could provide insight on the potential role of Bin1 in skeletal muscle contractility and pathology of myopathy.
      Title: Disrupted membrane structure and intracellular Ca²⁺ signaling in adult skeletal muscle with acute knockdown of Bin1.
    4. Logistic regression analysis successfully replicates the association of BIN1 (rs744373) with late-onset Alzheimer's disease, with an odds ratio comparable to that previously reported.
      Title: Replication of BIN1 association with Alzheimer's disease and evaluation of genetic interactions.
    5. alternative splicing associated with T tubule alterations and muscle weakness in myotonic dystrophy
      Title: Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
    6. we confirmed that BIN1 is a genetic determinants of Alzheimer disease.
      Title: Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations.
    7. There was evidence of association for recently-reported late-onset Alzheimer's disease risk loci, including BIN1 and CLU and CUGBP2 with APOE.
      Title: Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.
    8. A model has been proposed in which increased abundance of c-MYC indirectly leads to decreased BIN1 expression, in turn leading to increased PARP activity and resistance to DNA-damaging agents.
      Title: MYC, PARP1, and chemoresistance: BIN there, done that?
    9. BIN1 polymorphisms were associated with late-onset Alzheimer disease in an independent cohort from the National Institute on Aging Late-Onset Alzheimer's Disease Family Study
      Title: Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals.
    10. This study proposed that aberrant BIN1 localization and defects in triad structure are part of a common pathogenetic mechanism shared between the three forms of centronuclear myopathies.
      Title: Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
    Submit: New GeneRIF Correction See all (49)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

    Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

    Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease.

    Myopathy, centronuclear, autosomal recessive

    The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_647598.1 CAB46677.1     BIND  PubMed NS5A interacts with Amph II2. 
    NP_647600.1 CAB46677.1     BIND  PubMed NS5A interacts with Amph II2 short. 
    O00499 P00519 ABL1    HPRD  PubMed  
    O00499 P49418 AMPH    HPRD  PubMed  
    O00499 O95782 AP2A1    HPRD  PubMed  
    O00499 O94973 AP2A2    HPRD  PubMed  
    O00499 O43150 ASAP2    HPRD  PubMed  
    O00499 Q99700 ATXN2    HPRD  PubMed  
    O00499 O00499 BIN1    HPRD  PubMed  
    O00499 P39880 CUX1    HPRD  PubMed  
    O00499 Q9Y2H0 DLGAP4    HPRD  PubMed  
    O00499 Q05193 DNM1    HPRD  PubMed  
    O00499 P50570 DNM2    HPRD  PubMed  
    O00499 P09467 FBP1    HPRD  PubMed  
    O00499 P56199 ITGA1    HPRD  PubMed  
    O00499 P26006 ITGA3    HPRD  PubMed  
    O00499 P23229 ITGA6    HPRD  PubMed  
    O00499 Q8IVH8 MAP4K3    HPRD  PubMed  
    O00499 P01106 MYC    HPRD  PubMed  
    O00499 O14939 PLD2    HPRD  PubMed  
    O00499 Q05397 PTK2    HPRD  PubMed  
    O00499 P62834 RAP1A    HPRD  PubMed  
    O00499 Q8WYP3 RIN2    HPRD  PubMed  
    O00499 Q8TB24 RIN3    HPRD  PubMed  
    O00499 Q99962 SH3GL2    HPRD  PubMed  
    O00499 Q9Y371 SH3GLB1    HPRD  PubMed  
    O00499 O95219 SNX4    HPRD  PubMed  
    O00499 Q07889 SOS1    HPRD  PubMed  
    O00499 P17600 SYN1    HPRD  PubMed  
    O00499 O43426 SYNJ1    HPRD  PubMed  
    O00499 O15350 TP73    HPRD  PubMed  
    O00499 Q13426 XRCC4    HPRD  PubMed  
    BioGRID:106771 BioGRID:106770 AMPH    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106771 BioGRID:106771 BIN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106771 BioGRID:107903 CUX1    BioGRID  PubMed Two-hybrid 
    BioGRID:106771 BioGRID:109879 ITGA1    BioGRID  PubMed Two-hybrid 
    BioGRID:106771 BioGRID:109882 ITGA3    BioGRID  PubMed Two-hybrid 
    BioGRID:106771 BioGRID:109864 ITGA6    BioGRID  PubMed Two-hybrid 
    BioGRID:106771 BioGRID:110694 MYC    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106771 BioGRID:111353 PLD1    BioGRID  PubMed Phenotypic Suppression; Reconstituted Complex 
    BioGRID:106771 BioGRID:111354 PLD2    BioGRID  PubMed Phenotypic Suppression; Reconstituted Complex 
    BioGRID:106771 BioGRID:111719 PTK2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106771 BioGRID:111923 RFX3    BioGRID  PubMed Two-hybrid 
    BioGRID:106771 BioGRID:122974 RIN3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106771 BioGRID:112353 SH3GL2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106771 BioGRID:119289 SH3GLB1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106771 BioGRID:114262 SNX4    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:106771 BioGRID:112719 SYN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106771 BioGRID:115485 TNK2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106771 BioGRID:113353 XRCC5    BioGRID  PubMed Co-purification 
    BioGRID:106771 BioGRID:108822 XRCC6    BioGRID  PubMed Co-purification 
    BioGRID:106771 BioGRID:204608 Xrcc5    BioGRID  PubMed Co-purification 
    BioGRID:106771 BioGRID:199785 Xrcc6    BioGRID  PubMed Co-purification 
    BioGRID:106771 BioGRID:122933 ZBTB3    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    interspecies interaction between organisms IEA
    Inferred from Electronic Annotation
    more info
    		  
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
    		  
    muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    axon terminus IEA
    Inferred from Electronic Annotation
    more info
    		  
    cerebellar mossy fiber IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    varicosity IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    myc box-dependent-interacting protein 1
    Names
    myc box-dependent-interacting protein 1
    amphiphysin II
    amphiphysin-like protein
    box dependant MYC interacting protein 1
    box-dependent myc-interacting protein 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012042.1 RefSeqGene

      Range
      4962..64266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004305.3 → NP_004296.1  myc box-dependent-interacting protein 1 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks five in-frame exons and has an additional in-frame exon in the coding region, compared to variant 1. Isoform 8 is shorter than isoform 1. It is expressed in muscle and localizes to the nucleus.
      Source sequence(s)
      AF070576, BM711160, CF594020, U68485
      Consensus CDS
      CCDS2137.1
      UniProtKB/Swiss-Prot
      O00499
      Related
      ENSP00000315284, OTTHUMP00000162185, ENST00000352848, OTTHUMT00000254306
      Conserved Domains (3) summary
      cd00174
      Location:385 – 452
      Blast Score: 133
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      smart00721
      Location:17 – 238
      Blast Score: 459
      BAR; BAR domain
      cd07611
      Location:31 – 241
      Blast Score: 920
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

    2. NM_139343.2 → NP_647593.1  myc box-dependent-interacting protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform, which is cytoplasmic. Isoform 1, also called IIa and S11R3-a, binds dynamin, synaptojanin, and clathrin. This isoform is expressed exclusively in the brain and is concentrated in nerve terminals.
      Source sequence(s)
      AF004015, AF070576, BM711160, CF594020, U87558
      Consensus CDS
      CCDS2138.1
      UniProtKB/Swiss-Prot
      O00499
      Related
      ENSP00000316779, OTTHUMP00000162177, ENST00000316724, OTTHUMT00000254298
      Conserved Domains (4) summary
      cd00174
      Location:524 – 591
      Blast Score: 134
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      smart00721
      Location:17 – 269
      Blast Score: 509
      BAR; BAR domain
      cd07611
      Location:31 – 272
      Blast Score: 997
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      PRK07764
      Location:260 – 477
      Blast Score: 101
      PRK07764; DNA polymerase III subunits gamma and tau; Validated

    3. NM_139344.2 → NP_647594.1  myc box-dependent-interacting protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. Isoform 2, also called IId and S1/R3-6, is shorter than isoform 1 and binds dynamin, synaptojanin, and clathrin.
      Source sequence(s)
      AC012508, AF043901, AF070576, BM711160, CF594020
      Consensus CDS
      CCDS2139.1
      UniProtKB/Swiss-Prot
      O00499
      Related
      ENSP00000350654, OTTHUMP00000162178, ENST00000357970, OTTHUMT00000254299
      Conserved Domains (4) summary
      cd00174
      Location:481 – 548
      Blast Score: 134
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      smart00721
      Location:17 – 269
      Blast Score: 512
      BAR; BAR domain
      cd07611
      Location:31 – 272
      Blast Score: 1000
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      PRK07764
      Location:260 – 448
      Blast Score: 125
      PRK07764; DNA polymerase III subunits gamma and tau; Validated

    4. NM_139345.2 → NP_647595.1  myc box-dependent-interacting protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks three in-frame exons in the coding region, compared to variant 1. Isoform 3, also called IIc1, is shorter than isoform 1 and binds dynamin and synaptojanin.
      Source sequence(s)
      AC012508, AF043899, AF070576, BM711160, CF594020
      Consensus CDS
      CCDS2140.1
      UniProtKB/Swiss-Prot
      O00499
      Related
      ENSP00000315388, OTTHUMP00000162184, ENST00000351659, OTTHUMT00000254305
      Conserved Domains (4) summary
      cd00174
      Location:437 – 504
      Blast Score: 134
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      smart00721
      Location:17 – 269
      Blast Score: 502
      BAR; BAR domain
      cd07611
      Location:31 – 272
      Blast Score: 991
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      PRK07764
      Location:270 – 390
      Blast Score: 118
      PRK07764; DNA polymerase III subunits gamma and tau; Validated

    5. NM_139346.2 → NP_647596.1  myc box-dependent-interacting protein 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks four in-frame exons and has an additional in-frame exon in the coding region, compared to variant 1. Isoform 4 is shorter than isoform 1.
      Source sequence(s)
      AF068918, AF070576, BM711160, CF594020
      Consensus CDS
      CCDS2141.1
      UniProtKB/Swiss-Prot
      O00499
      Related
      ENSP00000259238, OTTHUMP00000162181, ENST00000259238, OTTHUMT00000254302
      Conserved Domains (3) summary
      cd00174
      Location:428 – 495
      Blast Score: 133
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      smart00721
      Location:17 – 238
      Blast Score: 456
      BAR; BAR domain
      cd07611
      Location:31 – 241
      Blast Score: 917
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

    6. NM_139347.2 → NP_647597.1  myc box-dependent-interacting protein 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three in-frame exons in the coding region, compared to variant 1. Isoform 5, also called IIb, is shorter than isoform 1 and binds dynamin, synaptojanin, and endophilin.
      Source sequence(s)
      AC012508, AF043898, AF070576, BM711160, CF594020
      Consensus CDS
      CCDS2142.1
      UniProtKB/Swiss-Prot
      O00499
      Related
      ENSP00000315411, OTTHUMP00000162182, ENST00000346226, OTTHUMT00000254303
      Conserved Domains (4) summary
      cd00174
      Location:449 – 516
      Blast Score: 134
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      smart00721
      Location:17 – 238
      Blast Score: 467
      BAR; BAR domain
      cd07611
      Location:31 – 241
      Blast Score: 928
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      PRK07764
      Location:229 – 416
      Blast Score: 97
      PRK07764; DNA polymerase III subunits gamma and tau; Validated

    7. NM_139348.2 → NP_647598.1  myc box-dependent-interacting protein 1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks four in-frame exons in the coding region, compared to variant 1. Isoform 6, also called subtype 2, is shorter than isoform 1.
      Source sequence(s)
      AF068917, AF070576, BM711160, CF594020
      Consensus CDS
      CCDS42744.1
      UniProtKB/Swiss-Prot
      O00499
      Related
      ENSP00000376760, OTTHUMP00000162179, ENST00000393040, OTTHUMT00000254300
      Conserved Domains (3) summary
      cd00174
      Location:413 – 480
      Blast Score: 133
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      smart00721
      Location:17 – 238
      Blast Score: 456
      BAR; BAR domain
      cd07611
      Location:31 – 241
      Blast Score: 917
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

    8. NM_139349.2 → NP_647599.1  myc box-dependent-interacting protein 1 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks three in-frame exons in the coding region, compared to variant 1. Isoform 7, also called IIc2 and S1/R3-c, is shorter than isoform 1 and binds dynamin and synaptojanin.
      Source sequence(s)
      AC012508, AF043900, AF070576, BM711160, CF594020
      Consensus CDS
      CCDS42743.1
      UniProtKB/Swiss-Prot
      O00499
      Related
      ENSP00000376761, OTTHUMP00000162183, ENST00000393041, OTTHUMT00000254304
      Conserved Domains (4) summary
      cd00174
      Location:406 – 473
      Blast Score: 133
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      smart00721
      Location:17 – 238
      Blast Score: 471
      BAR; BAR domain
      cd07611
      Location:31 – 241
      Blast Score: 932
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      PRK07764
      Location:239 – 359
      Blast Score: 118
      PRK07764; DNA polymerase III subunits gamma and tau; Validated

    9. NM_139350.2 → NP_647600.1  myc box-dependent-interacting protein 1 isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks five in-frame exons in the coding region, compared to variant 1. Isoform 9, also called BIN1-10, is shorter than isoform 1 and is ubiquitously expressed.
      Source sequence(s)
      AF068914, AF070576, BC004101, BM711160, CF594020
      Consensus CDS
      CCDS46403.1
      UniProtKB/Swiss-Prot
      O00499
      UniProtKB/TrEMBL
      Q9BTH3
      Related
      ENSP00000386797, OTTHUMP00000203785, ENST00000409400, OTTHUMT00000330943
      Conserved Domains (4) summary
      cd00174
      Location:370 – 437
      Blast Score: 133
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      smart00721
      Location:17 – 238
      Blast Score: 459
      BAR; BAR domain
      cd07611
      Location:31 – 241
      Blast Score: 919
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      PRK07764
      Location:229 – 325
      Blast Score: 88
      PRK07764; DNA polymerase III subunits gamma and tau; Validated

    10. NM_139351.2 → NP_647601.1  myc box-dependent-interacting protein 1 isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks six in-frame exons in the coding region, compared to variant 1. Isoform 10, also called BIN1-10-13, is shorter than isoform 1 and is ubiquitously expressed.
      Source sequence(s)
      AF068915, AF070576, BM711160, CF594020
      Consensus CDS
      CCDS2143.1
      UniProtKB/Swiss-Prot
      O00499
      Related
      ENSP00000259237, OTTHUMP00000162180, ENST00000348750, OTTHUMT00000254301
      Conserved Domains (3) summary
      cd00174
      Location:340 – 407
      Blast Score: 133
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      smart00721
      Location:17 – 238
      Blast Score: 455
      BAR; BAR domain
      cd07611
      Location:31 – 241
      Blast Score: 915
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      127805607..127864864, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      120113352..120172612, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC012508.10 AAY24328.1
    genomic CH471103.1 EAW95286.1
      EAW95287.1
      EAW95288.1
      EAW95289.1
      EAW95290.1
      EAW95291.1
      EAW95292.1
      EAW95293.1
      EAW95294.1
      EAW95295.1
      EAW95296.1
      EAW95297.1
      EAW95298.1
      EAW95299.1
      EAW95300.1
      EAW95301.1
      EAW95302.1
      EAW95303.1
      EAW95304.1
      EAW95305.1
      EAW95306.1
      EAW95307.1
    genomic U83999.1 AAC23440.1
    genomic U84004.1 AAC23440.1
      AAC23441.1
    mRNA AF001383.1 AAB61363.1
    mRNA AF004015.1 AAC51345.1
    mRNA AF043898.1 AAC39710.1
    mRNA AF043899.1 AAC39711.1
    mRNA AF043900.1 AAC39712.1
    mRNA AF043901.1 AAC39713.1
    mRNA AF068914.1 AAC24126.1
    mRNA AF068915.1 AAC24127.1
    mRNA AF068916.1 AAC24128.1
    mRNA AF068917.1 AAC23750.1
    mRNA AF068918.1 AAC23751.1
    mRNA AF070576.1 AAC28646.1
    mRNA AK127325.1 None
    mRNA AK295300.1 BAH12028.1
    mRNA AK301153.1 BAH13418.1
    mRNA AL713697.1 CAD28496.1
    mRNA BC004101.2 AAH04101.1
    mRNA BM711160.1 None
    mRNA BT006865.1 AAP35511.1
    mRNA CF594020.1 None
    mRNA U68485.1 AAC17461.1
    mRNA U87558.1 AAB63263.1
    other-genetic AM392950.1 CAL37828.1
    other-genetic EU831833.1 ACE86592.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00499.1 GenPept UniProtKB/Swiss-Prot:O00499
    Q8WWH9 GenPept UniProtKB/TrEMBL:Q8WWH9
    Q9BTH3 GenPept UniProtKB/TrEMBL:Q9BTH3
    Help top of page

    Additional Links

    Additional Links

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