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Protein-coding gene in the species Homo sapiens

APBA1

APBA1
All data from the card 18
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
PDB
Ortholog search: PDBe RCSB
Chr.
Chromosome 9 (human)
Band
9q21.12
End
69,672,371 bp
Chr.
Chromosome 19 (mouse)
Band
19|19 B
End
23,926,960 bp
BioGPS
More reference expression data
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
320
Ensembl
ENSG00000107282ENSG00000276497
UniProt
Q02410
RefSeq (mRNA)
NM_001163
RefSeq (protein)
NP_001154
Location (UCSC)
Chr 9: 69.43 – 69.67 Mb

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.

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Text from Wikipedia, CC BY-SA 4.0 · Source article