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    BIN1 bridging integrator 1 [ Homo sapiens (human) ]

    Gene ID: 274, updated on 9-Jun-2013
    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
    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]
    Location :
    2q14
    Sequence :
    Chromosome: 2; NC_000002.11 (127805599..127864903, 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

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Genome-wide scan for copy number variation association with age at onset of Alzheimer's disease. Szigeti K, et al. J Alzheimers Dis, 2013. PMID 23202439.
    2. A high-throughput approach for measuring temporal changes in the interactome. Kristensen AR, et al. Nat Methods, 2012 Sep. PMID 22863883.
    3. Genome-wide association study of Alzheimer's disease. Kamboh MI, et al. Transl Psychiatry, 2012 May 15. PMID 22832961.
    4. Viral immune modulators perturb the human molecular network by common and unique strategies. Pichlmair A, et al. Nature, 2012 Jul 26. PMID 22810585.
    5. Epigenetic inactivation of the tumor suppressor BIN1 drives proliferation of SNF5-deficient tumors. McKenna ES, et al. Cell Cycle, 2012 May 15. PMID 22544318.

    See all (112) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

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

    1. We identified rare small events overlapping CR1 and BIN1 in Alzheimer's disease and normal controls with opposite copy number variation dosage.
      Title: Genome-wide scan for copy number variation association with age at onset of Alzheimer's disease.
    2. The re-expression of BIN1 specifically compromises the proliferation of SNF5-deficient rhabdoid tumors cell lines.
      Title: Epigenetic inactivation of the tumor suppressor BIN1 drives proliferation of SNF5-deficient tumors.
    3. BIN1 expression is significantly decreased in surgically excised hepatocellular carcinoma patient specimens as well as in HCC cell lines and decreased BIN1 expression correlates with the degree of differentiation of HCC and predicts poor prognosis.
      Title: Characterization of bridging integrator 1 (BIN1) as a potential tumor suppressor and prognostic marker in hepatocellular carcinoma.
    4. The SNP genotype pattern at the BIN1 gene is associated with episodic memory.
      Title: Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all (53)

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

    Review eQTL and phenotype association data in this region using PheGenI

    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:106670 AP2A2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106771 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106771 BioGRID:106771 BIN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106771 BioGRID:119528 BIN2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106771 BioGRID:107128 BMX    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106771 BioGRID:112163 CLIP1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:106771 BioGRID:107623 CLTC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106771 BioGRID:107903 CUX1    BioGRID  PubMed Two-hybrid 
    BioGRID:106771 BioGRID:108309 ELAVL1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:106771 BioGRID:1205534 HCVgp1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106771 BioGRID:115780 HYOU1    BioGRID  PubMed Affinity Capture-MS 
    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:110324 MBNL1    BioGRID  PubMed Protein-RNA 
    BioGRID:106771 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex; Two-hybrid 
    BioGRID:106771 BioGRID:111170 PDE4D    BioGRID  PubMed Affinity Capture-MS 
    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:115440 RBM12    BioGRID  PubMed Affinity Capture-MS 
    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:112537 SOS1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106771 BioGRID:112538 SOS2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106771 BioGRID:112719 SYN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106771 BioGRID:116923 SYNM    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 

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC10367, DKFZp547F068

    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 complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    endocytosis 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
    		  
    virus-host interaction 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
    		  
    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
    		  
    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

    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
      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
      cd12139
      Location:382 – 453
      Blast Score: 380
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

    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 (3) summary
      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
      cd12139
      Location:521 – 592
      Blast Score: 381
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

    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 (3) summary
      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
      cd12139
      Location:478 – 549
      Blast Score: 382
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

    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 (3) summary
      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
      cd12139
      Location:434 – 505
      Blast Score: 382
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

    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
      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
      cd12139
      Location:425 – 496
      Blast Score: 380
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

    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 (3) summary
      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
      cd12139
      Location:446 – 517
      Blast Score: 382
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

    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
      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
      cd12139
      Location:410 – 481
      Blast Score: 380
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

    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 (3) summary
      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
      cd12139
      Location:403 – 474
      Blast Score: 382
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

    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 (3) summary
      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
      cd12139
      Location:367 – 438
      Blast Score: 380
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

    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
      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
      cd12139
      Location:337 – 408
      Blast Score: 380
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p10 Primary Assembly

      Range
      127805599..127864903, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      120113344..120172651, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018913.1 Alternate CHM1_1.0

      Range
      127304780..127364080, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01040216.1 (60624..119931) None
    genomic AC012508.10 AAY24328.1
    genomic AMYH01011017.1 (268608..327908) None
    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

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
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    Research Materials
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      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

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