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

Gene ID: 320, updated on 7-Dec-2018

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, ENST00000265381.6
    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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