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    APBB3 amyloid beta (A4) precursor protein-binding, family B, member 3 [ Homo sapiens ]

    Gene ID: 10307, updated on 4-Feb-2012

    Summary

    Official Symbol
    APBB3provided by HGNC
    Official Full Name
    amyloid beta (A4) precursor protein-binding, family B, member 3provided by HGNC
    Primary source
    HGNC:20708
    See related
    Ensembl:ENSG00000113108; HPRD:04089; MIM:602711; Vega:OTTHUMG00000129504
    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
    SRA; FE65L2
    Summary
    The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    5q31
    Sequence :
    Chromosome: 5; NC_000005.9 (139937853..139944189, complement)
    See APBB3 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene ANKHD1-EIF4EBP3 readthrough Neighboring gene eukaryotic translation initiation factor 4E binding protein 3 Neighboring gene uncharacterized LOC100505798 Neighboring gene steroid receptor RNA activator 1 Neighboring gene solute carrier family 35, member A4 Neighboring gene HAUS augmin-like complex, subunit 1 pseudogene

    Genomic regions, transcripts, and products

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O95704 Q06481 APLP2    HPRD  PubMed  
    O95704 P05067 APP    HPRD  PubMed  
    O95704 P20338 RAB4A    HPRD  PubMed  
    BioGRID:115593 BioGRID:106830 APLP1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115593 BioGRID:106831 APLP2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115593 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 

    General gene information

    Markers

    Homology

    Clone Names

    • MGC87674, MGC150555

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    intracellular signal transduction NAS
    Non-traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular NAS
    Non-traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    amyloid beta A4 precursor protein-binding family B member 3
    Names
    amyloid beta A4 precursor protein-binding family B member 3
    FE65-like protein 2
    protein Fe65-like 2
    amyloid precursor interacting protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

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

    mRNA and Protein(s)

    1. NM_006051.3NP_006042.3  amyloid beta A4 precursor protein-binding family B member 3 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (d).
      Source sequence(s)
      AB209839, AF224711, BC013158, BF448559
      Consensus CDS
      CCDS4227.1
      UniProtKB/Swiss-Prot
      O95704
      UniProtKB/TrEMBL
      Q59EH2
      UniProtKB/TrEMBL
      Q96DX9
      Related
      ENSP00000346378, OTTHUMP00000159887, ENST00000354402, OTTHUMT00000251676
      Conserved Domains (2) summary
      cd00201
      Location:3261
      Blast Score: 98
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cl00273
      Location:116261
      Blast Score: 424
      PH-like; Pleckstrin homology-like domain
    2. NM_133172.2NP_573418.2  amyloid beta A4 precursor protein-binding family B member 3 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks a 6 nt miniexon in the coding region but maintains the same reading frame as transcript variant 4. As a result, variant 3 encodes isoform c which lacks 2 internal aa as compared to isoform d encoded by transcript variant 4.
      Source sequence(s)
      AB209839, AF224708, BC013158, BF448559
      Consensus CDS
      CCDS4228.1
      UniProtKB/Swiss-Prot
      O95704
      UniProtKB/TrEMBL
      Q59EH2
      UniProtKB/TrEMBL
      Q96DX9
      Related
      ENSP00000349177, OTTHUMP00000159886, ENST00000356738, OTTHUMT00000251675
      Conserved Domains (2) summary
      cd00201
      Location:3261
      Blast Score: 98
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cl00273
      Location:116259
      Blast Score: 427
      PH-like; Pleckstrin homology-like domain
    3. NM_133173.2NP_573419.2  amyloid beta A4 precursor protein-binding family B member 3 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a 21 nt miniexon in the coding region but maintains the same reading frame as transcript variant 4. As a result, variant 2 encodes isoform b which lacks 7 internal aa as compared to the longest isoform (d) encoded by transcript variant 4.
      Source sequence(s)
      AB209839, BC013158, BF448559
      Consensus CDS
      CCDS4229.1
      UniProtKB/Swiss-Prot
      O95704
      UniProtKB/TrEMBL
      Q59EH2
      UniProtKB/TrEMBL
      Q96DX9
      Related
      ENSP00000350171, OTTHUMP00000159888, ENST00000357560, OTTHUMT00000251677
      Conserved Domains (2) summary
      cd00201
      Location:3261
      Blast Score: 98
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cl00273
      Location:116254
      Blast Score: 431
      PH-like; Pleckstrin homology-like domain
    4. NM_133174.2NP_573420.2  amyloid beta A4 precursor protein-binding family B member 3 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks tandem 6 nt and 21 nt miniexons in the coding region but maintains the same reading frame as transcript variant 4. As a result, variant 1 encodes isoform a which lacks 9 internal aa as compared to isoform d encoded by transcript variant 4.
      Source sequence(s)
      AB209839, AF224710, BC013158, BF448559
      Consensus CDS
      CCDS47279.1
      UniProtKB/Swiss-Prot
      O95704
      UniProtKB/TrEMBL
      Q59EH2
      UniProtKB/TrEMBL
      Q96DX9
      Related
      ENSP00000402591, OTTHUMP00000223852, ENST00000412920, OTTHUMT00000373245
      Conserved Domains (2) summary
      cd00201
      Location:3261
      Blast Score: 98
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cl00273
      Location:116252
      Blast Score: 445
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p5 Primary Assembly

      Range
      139937853..139944189, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      135083190..135089524, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

     

    1. NM_133175.1: Suppressed sequence

      Description
      NM_133175.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    2. NM_133176.1: Suppressed sequence

      Description
      NM_133176.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

      Supplemental Content

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