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    BIN1 bridging integrator 1 [ Homo sapiens (human) ]

    Gene ID: 274, updated on 17-Jun-2024

    Summary

    Official Symbol
    BIN1provided by HGNC
    Official Full Name
    bridging integrator 1provided by HGNC
    Primary source
    HGNC:HGNC:1052
    See related
    Ensembl:ENSG00000136717 MIM:601248; AllianceGenome:HGNC:1052
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BIN1 in Genome Data Viewer
    Location:
    2q14.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (127048023..127107154, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (127482408..127541545, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (127805599..127864730, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:127782155-127782754 Neighboring gene uncharacterized LOC105373604 Neighboring gene RNA, U7 small nuclear 182 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127810732-127811490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127811491-127812249 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:127819607-127820223 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:127822028-127823227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127824976-127825607 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:127825608-127826238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:127844150-127845127 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:127849722-127849889 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:127852973-127853644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127853738-127854508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127861306-127861858 Neighboring gene Sharpr-MPRA regulatory region 2128 Neighboring gene uncharacterized LOC105373605 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127893553-127894054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127894055-127894554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127914864-127915364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127915365-127915865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127922719-127923312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127923313-127923906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127928522-127929073 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:127940541-127941097 Neighboring gene NIFK pseudogene 9 Neighboring gene Sharpr-MPRA regulatory region 1591 Neighboring gene cytochrome P450 family 27 subfamily C member 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:127966173-127966722

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Myopathy, centronuclear, 2
    MedGen: C0410204 OMIM: 255200 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
    EBI GWAS Catalog
    Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide association study of Alzheimer's disease with psychotic symptoms.
    EBI GWAS Catalog
    Genome-wide association study of Alzheimer's disease.
    EBI GWAS Catalog
    GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
    EBI GWAS Catalog
    Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog
    The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC10367, DKFZp547F068

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables aspartic-type endopeptidase inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables clathrin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-folding chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tau protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables tau protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tau protein binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T-tubule organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in T-tubule organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytoskeleton organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lipid tube assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of amyloid-beta formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of potassium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of ventricular cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nucleus localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleus organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of actin filament polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of astrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell cycle process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of heart rate by cardiac conduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synaptic vesicle endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in I band ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of RNA polymerase II transcription repressor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in T-tubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in axon initial segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in axon terminus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cerebellar mossy fiber IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extrinsic component of synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of lipid tube IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in node of Ranvier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in varicosity IEA
    Inferred from Electronic Annotation
    more info
     
    located_in vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    myc box-dependent-interacting protein 1
    Names
    amphiphysin 2
    amphiphysin II
    amphiphysin-like protein
    box dependant MYC interacting protein 1
    box-dependent myc-interacting protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5135..64257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_873

    mRNA and Protein(s)

    1. NM_001320632.2NP_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
      Consensus CDS
      CCDS82508.1
      UniProtKB/TrEMBL
      Q9BTH3
      Related
      ENSP00000365281.2, ENST00000376113.6
      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_001320633.2NP_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
      UniProtKB/TrEMBL
      B7Z2Z2
      Conserved Domains (3) 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
      pfam16072
      Location:275351
      DUF4813; Domain of unknown function (DUF4813)
    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_001320640.2NP_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, DR761993
      UniProtKB/TrEMBL
      B7Z2Z2
      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_001320641.2NP_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
      UniProtKB/TrEMBL
      Q8WWH9
      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/TrEMBL
      Q8WWH9
      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_004305.4NP_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/TrEMBL
      Q9BTH3
      Related
      ENSP00000315284.4, ENST00000352848.8
      Conserved Domains (3) 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
      PHA03247
      Location:249379
      PHA03247; large tegument protein UL36; Provisional
    8. NM_139343.3NP_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
      O00297, O00499, O00545, O43867, O60552, O60553, O60554, O60555, O75514, O75515, O75516, O75517, O75518, Q659B7, Q92944, Q99688
      UniProtKB/TrEMBL
      Q8WWH9
      Related
      ENSP00000316779.5, ENST00000316724.10
      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_139344.3NP_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/TrEMBL
      B7Z2Z2
      Related
      ENSP00000350654.3, ENST00000357970.7
      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_139345.3NP_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/TrEMBL
      B7Z2Z2
      Related
      ENSP00000315388.3, ENST00000351659.7
      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_139346.3NP_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/TrEMBL
      Q9BTH3
      Related
      ENSP00000259238.4, ENST00000259238.8
      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_139347.3NP_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/TrEMBL
      Q8WWH9
      Related
      ENSP00000315411.3, ENST00000346226.7
      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_139348.3NP_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/TrEMBL
      Q9BTH3
      Related
      ENSP00000376760.3, ENST00000393040.7
      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_139349.3NP_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/TrEMBL
      Q9BTH3
      Related
      ENSP00000376761.3, ENST00000393041.7
      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_139350.3NP_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/TrEMBL
      Q9BTH3
      Related
      ENSP00000386797.1, ENST00000409400.1
      Conserved Domains (3) 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
      pfam16072
      Location:244320
      DUF4813; Domain of unknown function (DUF4813)
    16. NM_139351.3NP_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/TrEMBL
      Q9BTH3
      Related
      ENSP00000259237.5, ENST00000348750.8
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      127048023..127107154 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      127482408..127541545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)