APBB1

Symbol: APBB1
Name: amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)
Alias: Fe65
Entrez gene ID: 322
Ensembl gene ID: ENSG00000166313
Species: Human (Taxid: 9606)

Functional description:
Amyloid Beta A4 Precursor Protein-Binding, Family B, Member 1; binds to the intracellular domain of the beta-amyloid precursor protein and may modulate the internalization of betaPP; Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on 'Tyr-142' (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro- apoptosis factors such as MAPK8/JNK1. Required for histone H4 acetylation at double-strand breaks (DSBs). Its ability to specifically bind modified histones and chromatin modifying enzymes such as KAT5/TIP60, probably explains its trancription activation activity. Function in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s). [UniProt]

Observation:

At least one copy of the minor allele of F65 was associated with decreased risk of sporadic dementia of the Alezheimer's type as suggest by a larde epidemiological study [9799084]. Fe65 protein binds to the intracellular domain of the beta-amyloid precursor protein and may modulate the internalization of betaPP. The deletion/substitution of the minor allele occurs with the intron that interrupts the two exons encoding the betaPP binding site. Linkage of the minor allele with resistance to DAT was confirmed in another study in populations over 75 years-of-age [11065130], while epidemiological studies that did not support the linage [11436125; 11099823; 11029529] lacked representation of individuals older than 75 years-old. Any protective effect that the minor allele of Fe65 might have is probably restricted to individuals older than 75 years.



Assays: Organismal Lifespan

Classification:
  • Longevity-Associated


  • References:
  • 9799084: The human FE65 gene: genomic structure and an intronic biallelic polymorphism associated with sporadic dementia of the Alzheimer type.
  • 11065130: A FE65 polymorphism associated with risk of developing sporadic late-onset alzheimer's disease but not with Abeta loading in brains.


  • Aging Relevance Analysis/Source:
  • GenAge
  • GenDR

  • Homologs
  • APBB1 (9606)
  • APBB1 (9598)
  • APBB1 (9913)
  • Apbb1 (10090)
  • Apbb1 (10116)



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