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

    Gene ID: 10307, updated on 23-Nov-2021

    Summary

    Official Symbol
    APBB3provided by HGNC
    Official Full Name
    amyloid beta precursor protein binding family B member 3provided by HGNC
    Primary source
    HGNC:HGNC:20708
    See related
    Ensembl:ENSG00000113108 MIM:602711
    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]
    Expression
    Ubiquitous expression in testis (RPKM 17.3), adrenal (RPKM 13.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See APBB3 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (140558268..140564598, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (139937853..139944183, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ANKHD1-EIF4EBP3 readthrough Neighboring gene eukaryotic translation initiation factor 4E binding protein 3 Neighboring gene steroid receptor RNA activator 1 Neighboring gene uncharacterized LOC112267855 Neighboring gene microRNA 6831 Neighboring gene solute carrier family 35 member A4 Neighboring gene HAUS augmin like complex subunit 1 pseudogene 1

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC87674, MGC150555

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amyloid-beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables low-density lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_006051.4NP_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, Q96DX9
      Related
      ENSP00000346378.5, ENST00000354402.9
      Conserved Domains (3) summary
      smart00456
      Location:3061
      WW; Domain with 2 conserved Trp (W) residues
      cd01271
      Location:290420
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:116261
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    2. NM_133172.3NP_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, Q96DX9
      Related
      ENSP00000349177.2, ENST00000356738.6
      Conserved Domains (3) summary
      smart00456
      Location:3061
      WW; Domain with 2 conserved Trp (W) residues
      cd01271
      Location:288418
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:116259
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    3. NM_133173.3NP_573419.2  amyloid-beta A4 precursor protein-binding family B member 3 isoform b

      See identical proteins and their annotated locations for NP_573419.2

      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, Q96DX9
      Related
      ENSP00000350171.4, ENST00000357560.9
      Conserved Domains (3) summary
      smart00456
      Location:3061
      WW; Domain with 2 conserved Trp (W) residues
      cd01271
      Location:283413
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:116254
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain
    4. NM_133174.3NP_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, Q96DX9
      Related
      ENSP00000402591.3, ENST00000412920.7
      Conserved Domains (3) summary
      smart00456
      Location:3061
      WW; Domain with 2 conserved Trp (W) residues
      cd01271
      Location:281411
      PTB2_Fe65; Fe65 C-terminal Phosphotyrosine-binding (PTB) domain
      cd01272
      Location:116252
      PTB1_Fe65; Fe65 N-terminal Phosphotyrosine-binding (PTB) domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      140558268..140564598 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.
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