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    BIN1 bridging integrator 1 [ Homo sapiens (human) ]

    Gene ID: 274, updated on 22-May-2018
    Official Symbol
    BIN1provided by HGNC
    Official Full Name
    bridging integrator 1provided by HGNC
    Primary source
    HGNC:HGNC:1052
    See related
    Ensembl:ENSG00000136717 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
    CNM2; 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 several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in brain (RPKM 31.3), kidney (RPKM 18.5) and 22 other tissues See more
    Orthologs
    See BIN1 in Genome Data Viewer
    Location:
    2q14.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (127048023..127107327, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (127805599..127864903, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373604 Neighboring gene RNA, U7 small nuclear 182 pseudogene Neighboring gene uncharacterized LOC105373605 Neighboring gene nucleolar protein interacting with the FHA domain of MKI67 pseudogene 9

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Autosomal recessive centronuclear myopathy
    MedGen: C0410204 OMIM: 255200 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
    NHGRI GWA Catalog
    Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide association study of Alzheimer's disease with psychotic symptoms.
    NHGRI GWA Catalog
    Genome-wide association study of Alzheimer's disease.
    NHGRI GWA Catalog
    GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
    NHGRI GWA Catalog
    Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease.
    NHGRI GWA Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    NHGRI GWA Catalog
    The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
    NHGRI GWA Catalog
    • Arf6 trafficking events, organism-specific biosystem (from Pathway Interaction Database)
      Arf6 trafficking events, organism-specific biosystem
      Arf6 trafficking events
    • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
      Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
    • Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
      Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC10367, DKFZp547F068

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    clathrin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    tau protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoskeleton organization TAS
    Traceable Author Statement
    more info
    PubMed 
    endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipid tube assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane organization TAS
    Traceable Author Statement
    more info
     
    muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of amyloid-beta formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleus localization IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of astrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell cycle arrest IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    I band ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    T-tubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon initial segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    lipid tube IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    node of Ranvier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    myc box-dependent-interacting protein 1
    Names
    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_001320632.1NP_001307561.1  myc box-dependent-interacting protein 1 isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) lacks six alternate in-frame exons and contains another alternate in-frame exon compared to variant 1. The resulting isoform (13) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AF068916, AL713697, BC004101, BM711160, DA133745
      Consensus CDS
      CCDS82508.1
      UniProtKB/Swiss-Prot
      O00499
      UniProtKB/TrEMBL
      A0A024RAG9, Q9BTH3
      Related
      ENSP00000365281.2, OTTHUMP00000203786, ENST00000376113.6, OTTHUMT00000330944
      Conserved Domains (2) summary
      cd07611
      Location:31241
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:352423
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    2. NM_001320633.1NP_001307562.1  myc box-dependent-interacting protein 1 isoform 14

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) lacks four alternate in-frame exons compared to variant 1. The resulting isoform (14) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC012508, AK295300, AL713697, BC004101, BM711160, DA133745
      UniProtKB/Swiss-Prot
      O00499
      UniProtKB/TrEMBL
      B7Z2Z2, Q9BTH3
      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:398469
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    3. NM_001320634.1NP_001307563.1  myc box-dependent-interacting protein 1 isoform 16

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16) differs in the 5' UTR and coding sequence and lacks six alternate in-frame exons compared to variant 1. The resulting isoform (16) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC012508, AK301153, BC004101, BM711160
      UniProtKB/TrEMBL
      B7Z6Y2, Q9BTH3
      Conserved Domains (2) summary
      cd07611
      Location:7217
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:313384
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    4. NM_001320640.1NP_001307569.1  myc box-dependent-interacting protein 1 isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (11) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL537027, AL713697, BC004101, BM711160, DA133745, DR761993
      UniProtKB/Swiss-Prot
      O00499
      UniProtKB/TrEMBL
      Q9BTH3
      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:441512
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    5. NM_001320641.1NP_001307570.1  myc box-dependent-interacting protein 1 isoform 12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (12) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC012508, AL713697, AW411140, BC004101, BE047931, BM711160, BM742027, BM805510, DA133745
      UniProtKB/Swiss-Prot
      O00499
      UniProtKB/TrEMBL
      Q9BTH3
      Conserved Domains (2) summary
      cd07611
      Location:31241
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:490561
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    6. NM_001320642.1NP_001307571.1  myc box-dependent-interacting protein 1 isoform 15

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (15) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC012508, AL713697, BM711160
      UniProtKB/Swiss-Prot
      O00499
      Conserved Domains (2) summary
      cd07611
      Location:4245
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:494565
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    7. NM_004305.3NP_004296.1  myc box-dependent-interacting protein 1 isoform 8

      See identical proteins and their annotated locations for NP_004296.1

      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
      UniProtKB/TrEMBL
      A0A024RAE9
      Related
      ENSP00000315284.4, OTTHUMP00000162185, ENST00000352848.7, OTTHUMT00000254306
      Conserved Domains (2) summary
      cd07611
      Location:31241
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:382453
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    8. NM_139343.2NP_647593.1  myc box-dependent-interacting protein 1 isoform 1

      See identical proteins and their annotated locations for NP_647593.1

      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
      UniProtKB/TrEMBL
      A0A024RAF1
      Related
      ENSP00000316779.5, OTTHUMP00000162177, ENST00000316724.9, OTTHUMT00000254298
      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:521592
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    9. NM_139344.2NP_647594.1  myc box-dependent-interacting protein 1 isoform 2

      See identical proteins and their annotated locations for NP_647594.1

      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
      UniProtKB/TrEMBL
      A0A024RAF6
      Related
      ENSP00000350654.3, OTTHUMP00000162178, ENST00000357970.7, OTTHUMT00000254299
      Conserved Domains (3) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:478549
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
      pfam15262
      Location:284395
      DUF4592; Domain of unknown function (DUF4592)
    10. NM_139345.2NP_647595.1  myc box-dependent-interacting protein 1 isoform 3

      See identical proteins and their annotated locations for NP_647595.1

      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
      UniProtKB/TrEMBL
      A0A024RAJ3
      Related
      ENSP00000315388.3, OTTHUMP00000162184, ENST00000351659.7, OTTHUMT00000254305
      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:434505
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    11. NM_139346.2NP_647596.1  myc box-dependent-interacting protein 1 isoform 4

      See identical proteins and their annotated locations for NP_647596.1

      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
      UniProtKB/TrEMBL
      A0A024RAJ2
      Related
      ENSP00000259238.4, OTTHUMP00000162181, ENST00000259238.8, OTTHUMT00000254302
      Conserved Domains (2) summary
      cd07611
      Location:31241
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:425496
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    12. NM_139347.2NP_647597.1  myc box-dependent-interacting protein 1 isoform 5

      See identical proteins and their annotated locations for NP_647597.1

      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
      UniProtKB/TrEMBL
      A0A024RAF0
      Related
      ENSP00000315411.3, OTTHUMP00000162182, ENST00000346226.7, OTTHUMT00000254303
      Conserved Domains (2) summary
      cd07611
      Location:31241
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:446517
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    13. NM_139348.2NP_647598.1  myc box-dependent-interacting protein 1 isoform 6

      See identical proteins and their annotated locations for NP_647598.1

      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
      UniProtKB/TrEMBL
      A0A024RAI5
      Related
      ENSP00000376760.3, OTTHUMP00000162179, ENST00000393040.7, OTTHUMT00000254300
      Conserved Domains (2) summary
      cd07611
      Location:31241
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:410481
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    14. NM_139349.2NP_647599.1  myc box-dependent-interacting protein 1 isoform 7

      See identical proteins and their annotated locations for NP_647599.1

      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
      UniProtKB/TrEMBL
      A0A024RAI4
      Related
      ENSP00000376761.3, OTTHUMP00000162183, ENST00000393041.7, OTTHUMT00000254304
      Conserved Domains (2) summary
      cd07611
      Location:31241
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:403474
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    15. NM_139350.2NP_647600.1  myc box-dependent-interacting protein 1 isoform 9

      See identical proteins and their annotated locations for NP_647600.1

      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
      A0A024RAG8, Q9BTH3
      Related
      ENSP00000386797.1, OTTHUMP00000203785, ENST00000409400.1, OTTHUMT00000330943
      Conserved Domains (2) summary
      cd07611
      Location:31241
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:367438
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    16. NM_139351.2NP_647601.1  myc box-dependent-interacting protein 1 isoform 10

      See identical proteins and their annotated locations for NP_647601.1

      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
      UniProtKB/TrEMBL
      A0A024RAI6
      Related
      ENSP00000259237.5, OTTHUMP00000162180, ENST00000348750.8, OTTHUMT00000254301
      Conserved Domains (2) summary
      cd07611
      Location:31241
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:337408
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      127048023..127107327 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003822.2XP_016859311.1  myc box-dependent-interacting protein 1 isoform X16

    2. XM_017003820.2XP_016859309.1  myc box-dependent-interacting protein 1 isoform X11

    3. XM_005263643.4XP_005263700.1  myc box-dependent-interacting protein 1 isoform X4

      Conserved Domains (2) summary
      cd07611
      Location:31241
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:505576
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    4. XM_017003828.2XP_016859317.1  myc box-dependent-interacting protein 1 isoform X23

    5. XM_006712434.4XP_006712497.1  myc box-dependent-interacting protein 1 isoform X18

      See identical proteins and their annotated locations for XP_006712497.1

      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:368439
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    6. XM_017003821.2XP_016859310.1  myc box-dependent-interacting protein 1 isoform X14

      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:411482
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    7. XM_017003827.2XP_016859316.1  myc box-dependent-interacting protein 1 isoform X22

    8. XM_006712433.4XP_006712496.1  myc box-dependent-interacting protein 1 isoform X15

      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:383454
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    9. XM_006712432.4XP_006712495.1  myc box-dependent-interacting protein 1 isoform X13

      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:413484
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    10. XM_006712429.4XP_006712492.1  myc box-dependent-interacting protein 1 isoform X10

      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:449520
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    11. XM_006712431.4XP_006712494.1  myc box-dependent-interacting protein 1 isoform X12

      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:426497
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    12. XM_006712428.4XP_006712491.1  myc box-dependent-interacting protein 1 isoform X9

      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:456527
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    13. XM_006712426.4XP_006712489.1  myc box-dependent-interacting protein 1 isoform X6

      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:492563
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    14. XM_006712425.4XP_006712488.1  myc box-dependent-interacting protein 1 isoform X5

      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:492563
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    15. XM_005263642.4XP_005263699.1  myc box-dependent-interacting protein 1 isoform X1

      Conserved Domains (2) summary
      cd07611
      Location:31272
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:536607
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    16. XM_011510975.3XP_011509277.1  myc box-dependent-interacting protein 1 isoform X3

      Conserved Domains (2) summary
      cd07611
      Location:4245
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:509580
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    17. XM_017003825.1XP_016859314.1  myc box-dependent-interacting protein 1 isoform X20

    18. XM_017003819.1XP_016859308.1  myc box-dependent-interacting protein 1 isoform X2

    19. XM_017003826.1XP_016859315.1  myc box-dependent-interacting protein 1 isoform X21

      Conserved Domains (2) summary
      cd07611
      Location:7217
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:343414
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    20. XM_017003823.1XP_016859312.1  myc box-dependent-interacting protein 1 isoform X17

    21. XM_017003824.1XP_016859313.1  myc box-dependent-interacting protein 1 isoform X19

    22. XM_006712427.2XP_006712490.1  myc box-dependent-interacting protein 1 isoform X8

      Conserved Domains (2) summary
      cd07611
      Location:7217
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:466537
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
    23. XM_005263645.2XP_005263702.1  myc box-dependent-interacting protein 1 isoform X7

      Conserved Domains (2) summary
      cd07611
      Location:7217
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12139
      Location:481552
      SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
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