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    APPBP2 amyloid beta precursor protein binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 10513, updated on 8-May-2017
    Official Symbol
    APPBP2provided by HGNC
    Official Full Name
    amyloid beta precursor protein binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:622
    See related
    Ensembl:ENSG00000062725 MIM:605324; Vega:OTTHUMG00000180048
    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
    PAT1; APP-BP2; HS.84084
    Summary
    The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Orthologs
    Location:
    17q23.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (60443149..60526240, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58520520..58603580, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L12 pseudogene 38 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 42 Neighboring gene splicing factor 3B subunit 6 pseudogene Neighboring gene long intergenic non-protein coding RNA 1999 Neighboring gene ribosomal protein SA pseudogene 66 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1D Neighboring gene RNA, U6 small nuclear 623, pseudogene

    • 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?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0228

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    microtubule motor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    intracellular protein transport TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytoplasmic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule associated complex TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    amyloid protein-binding protein 2
    Names
    amyloid beta precursor protein (cytoplasmic tail) binding protein 2
    protein interacting with APP tail 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.

    mRNA and Protein(s)

    1. NM_001282476.1NP_001269405.1  amyloid protein-binding protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant (1). The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC037475, BP222365, D86981
      UniProtKB/Swiss-Prot
      Q92624
      Conserved Domains (3) summary
      sd00006
      Location:358386
      TPR; TPR repeat [structural motif]
      pfam13374
      Location:357395
      TPR_10; Tetratricopeptide repeat
      pfam13424
      Location:356433
      TPR_12; Tetratricopeptide repeat
    2. NM_006380.3NP_006371.2  amyloid protein-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_006371.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and the longer isoform (1).
      Source sequence(s)
      AC037475, BP222365, D86981
      Consensus CDS
      CCDS32699.1
      UniProtKB/Swiss-Prot
      Q92624
      UniProtKB/TrEMBL
      A0A024QZ47
      Related
      ENSP00000083182.3, OTTHUMP00000263199, ENST00000083182.7, OTTHUMT00000449465
      Conserved Domains (3) summary
      sd00006
      Location:429457
      TPR; TPR repeat [structural motif]
      pfam13374
      Location:428466
      TPR_10; Tetratricopeptide repeat
      pfam13424
      Location:427504
      TPR_12; Tetratricopeptide repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      60443149..60526240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524198.2XP_011522500.1  amyloid protein-binding protein 2 isoform X1

      Conserved Domains (3) summary
      sd00006
      Location:343371
      TPR; TPR repeat [structural motif]
      pfam13374
      Location:342380
      TPR_10; Tetratricopeptide repeat
      pfam13424
      Location:341418
      TPR_12; Tetratricopeptide repeat
    2. XM_011524199.2XP_011522501.1  amyloid protein-binding protein 2 isoform X2

      Conserved Domains (3) summary
      sd00006
      Location:237265
      TPR; TPR repeat [structural motif]
      pfam13374
      Location:236274
      TPR_10; Tetratricopeptide repeat
      pfam13424
      Location:235312
      TPR_12; Tetratricopeptide repeat

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      58584436..58667977 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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