APBA1

APBA1
Identifiers
Aliases	APBA1, D9S411E, LIN10, MINT1, X11, X11A, X11ALPHA, amyloid beta precursor protein binding family A member 1
External IDs	OMIM: 602414; MGI: 1860297; GeneCards: APBA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1AQC, 1U37, 1U38, 1U39, 1U3B, 1X11, 1X45, 1Y7N
Gene location (Human) Chr. Chromosome 9 (human) Band 9q21.12 Start 69,427,532 bp End 69,672,371 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19|19 B Start 23,736,251 bp End 23,926,960 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in superior frontal gyrus prefrontal cortex right frontal lobe temporal lobe amygdala anterior cingulate cortex dorsolateral prefrontal cortex hypothalamus Brodmann area 9 nucleus accumbens Top expressed in habenula ventral tegmental area visual cortex primary visual cortex dentate gyrus of hippocampal formation granule cell pontine nuclei inferior colliculi central gray substance of midbrain medial dorsal nucleus subiculum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function amyloid-beta binding protein binding Cellular component cytoplasm cytosol membrane synaptic vesicle perinuclear region of cytoplasm nucleus neuron projection Golgi apparatus presynaptic active zone membrane Schaffer collateral - CA1 synapse glutamatergic synapse plasma membrane dendritic spine synapse Biological process locomotory behavior multicellular organism growth axo-dendritic transport in utero embryonic development nervous system development glutamate secretion cell adhesion regulation of gene expression protein transport intracellular protein transport gamma-aminobutyric acid secretion neurotransmitter secretion chemical synaptic transmission protein-containing complex assembly regulation of synaptic vesicle exocytosis Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 320 319924 Ensembl ENSG00000107282 ENSG00000276497 ENSMUSG00000024897 UniProt Q02410 B2RUJ5 RefSeq (mRNA) NM_001163 NM_177034 RefSeq (protein) NP_001154 NP_796008 Location (UCSC) Chr 9: 69.43 – 69.67 Mb Chr 19: 23.74 – 23.93 Mb PubMed search
Wikidata
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Amyloid beta A4 precursor protein-binding family A member 1 is a protein that in humans is encoded by the APBA1 gene.

Function

The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adaptor protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilises 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.

Interactions

APBA1 has been shown to interact with KCNJ12, CCS, CASK and Amyloid precursor protein.