Search
APP gene
Motifs from cloned rat promoter region (ref 2). Nucleotide & amino acid numbering with APP-770 as reference. The gene appears to be a constitutively expressed "housekeeping gene", but modulated by conditions of oxidative stress as well (i.e. regulation by redox-modulated transcription factors AP1, Sp1 & NF-kappa B). Clusters of mutations in the APP-gene give give to familial Alzheimer's disease type 1.
Laboratory:
- APP gene mutation
Related
amyloid precursor protein (APP) or A4/beta amyloid precursor protein
APP knockout mouse
familial Alzheimer's disease type 1 (FAD1), APP associated
transgenic mouse model HuAPPsw
General
housekeeping gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: amyloid precursor protein
LOCUS: human chromosome-21 Q21.3-22.05
SIZE: entity length = 50 KB
MOTIF: HOX 1.3 site
SITE: 5'ENHANCER-REGION
EkB site (3)
SITE: 5'ENHANCER-REGION
HOX 1.3 site
SITE: 5'ENHANCER-REGION
EkB site
SITE: 5'ENHANCER-REGION
SP1-binding site
SITE: -760
FOR-BINDING-OF: transcription factor Sp1
AP1 site
NAME: AP1 site
SITE: -350
heat shock element
SITE: -310
FOR-BINDING-OF: heat shock factor
CpG island {promoter region} (6)
AP4 site
AP1 site
NAME: AP1 site
SITE: -40
transcriptional start site
intron (18)
exon (19)
transcriptional termination site (2)
COPIES/HAPLOID-GENOME: 1
Database Correlations
OMIM 104760
MORBIDMAP 104760
References
- Lahiri DK, Robakis NK.
The promoter activity of the gene encoding Alzheimer
beta-amyloid precursor protein (APP) is regulated by
two blocks of upstream sequences.
Brain Res Mol Brain Res. 1991 Feb;9(3):253-7.
PMID: 1851527
- Salbaum et al EMBO J 7:2807 1988
- Kang J, Muller-Hill B.
Differential splicing of Alzheimer's disease amyloid A4
precursor RNA in rat tissues: PreA4(695) mRNA is
predominantly produced in rat and human brain.
Biochem Biophys Res Commun. 1990 Feb 14;166(3):1192-200.
PMID: 1689572
- Yoshikai S, Sasaki H, Doh-ura K, Furuya H, Sakaki Y.
Genomic organization of the human amyloid beta-protein
precursor gene.
Gene. 1990 Mar 15;87(2):257-63.
Erratum in: Gene. 1991 Jun 30;102(2):291-2.
PMID: 2110105
- Quitschke WW, Goldgaber D.
The amyloid beta-protein precursor promoter. A region
essential for transcriptional activity contains a nuclear
factor binding domain.
J Biol Chem. 1992 Aug 25;267(24):17362-8.
PMID: 1380960
- Selkoe DJ.
Alzheimer's disease: genes, proteins, and therapy.
Physiol Rev. 2001 Apr;81(2):741-66. Review.
PMID: 11274343