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    APBA1 amyloid beta precursor protein binding family A member 1 [ Homo sapiens (human) ]

    Gene ID: 320, updated on 15-Apr-2019

    Summary

    Official Symbol
    APBA1provided by HGNC
    Official Full Name
    amyloid beta precursor protein binding family A member 1provided by HGNC
    Primary source
    HGNC:HGNC:578
    See related
    Ensembl:ENSG00000107282 MIM:602414
    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
    X11; X11A; LIN10; MINT1; D9S411E; X11ALPHA
    Summary
    The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 13.2), spleen (RPKM 2.4) and 17 other tissues See more
    Orthologs

    Genomic context

    See APBA1 in Genome Data Viewer
    Location:
    9q21.12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (69427532..69673012, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (72042448..72287275, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene BRAF-activated non-protein coding RNA Neighboring gene family with sequence similarity 189 member A2 Neighboring gene uncharacterized LOC105376074 Neighboring gene 9q21.12 proximal LINE-mediated recombination region Neighboring gene 9q21.12 distal LINE-mediated recombination region Neighboring gene protein prenyltransferase alpha subunit repeat containing 1 Neighboring gene uncharacterized LOC105376076

    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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Dopamine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Dopamine Neurotransmitter Release Cycle, organism-specific biosystemDopamine neurotransmitter cycle occurs in dopaminergic neurons. Dopamine is synthesized and loaded into the clathrin sculpted monoamine transport vesicles. The vesicles are docked, primed and fused w...
    • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
      Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
    • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
      Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    amyloid-beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    axo-dendritic transport TAS
    Traceable Author Statement
    more info
    PubMed 
    cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    gamma-aminobutyric acid secretion IEA
    Inferred from Electronic Annotation
    more info
     
    glutamate secretion IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    neurotransmitter secretion TAS
    Traceable Author Statement
    more info
     
    protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synaptic vesicle exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    presynaptic active zone membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    amyloid-beta A4 precursor protein-binding family A member 1
    Names
    adapter protein X11alpha
    adaptor protein X11alpha
    amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)
    mint-1
    neuron-specific X11 protein
    neuronal munc18-1-interacting protein 1
    phosphotyrosine-binding/-interacting domain (PTB)-bearing 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_001163.4NP_001154.2  amyloid-beta A4 precursor protein-binding family A member 1

      See identical proteins and their annotated locations for NP_001154.2

      Status: REVIEWED

      Source sequence(s)
      AF047347, AL162412, AL355140, AL713639, BF435835, BQ269294, DA179202, DA313538
      Consensus CDS
      CCDS6630.1
      UniProtKB/Swiss-Prot
      Q02410
      Related
      ENSP00000265381.3, ENST00000265381.7
      Conserved Domains (3) summary
      cd00992
      Location:745818
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:452623
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:656739
      PDZ; PDZ domain (Also known as DHR or GLGF)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

      Range
      69427532..69673012 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518617.2XP_011516919.1  amyloid-beta A4 precursor protein-binding family A member 1 isoform X1

      See identical proteins and their annotated locations for XP_011516919.1

      UniProtKB/Swiss-Prot
      Q02410
      Conserved Domains (3) summary
      cd00992
      Location:745818
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:452623
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:656739
      PDZ; PDZ domain (Also known as DHR or GLGF)
    2. XM_005251968.3XP_005252025.1  amyloid-beta A4 precursor protein-binding family A member 1 isoform X2

      UniProtKB/Swiss-Prot
      Q02410
      Conserved Domains (3) summary
      cd00992
      Location:734807
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:452612
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:645728
      PDZ; PDZ domain (Also known as DHR or GLGF)
    3. XM_017014670.1XP_016870159.1  amyloid-beta A4 precursor protein-binding family A member 1 isoform X1

      UniProtKB/Swiss-Prot
      Q02410
      Conserved Domains (3) summary
      cd00992
      Location:745818
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:452623
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:656739
      PDZ; PDZ domain (Also known as DHR or GLGF)

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NW_003315929.1 Reference GRCh38.p12 ALT_REF_LOCI_1

      Range
      21986..70597 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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