Description: Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 4, mRNA. RefSeq Summary (NM_006051): The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr5:139,937,853-139,943,960 Size: 6,108 Total Exon Count: 10 Strand: - Coding Region Position: hg19 chr5:139,938,170-139,941,249 Size: 3,080 Coding Exon Count: 6
ID:APBB3_HUMAN DESCRIPTION: RecName: Full=Amyloid beta A4 precursor protein-binding family B member 3; AltName: Full=Protein Fe65-like 2; Short=Fe65L2; FUNCTION: May modulate the internalization of beta-amyloid precursor protein. SUBUNIT: Binds to the intracellular domain of the beta-amyloid precursor protein. Also binds to APP-like proteins. TISSUE SPECIFICITY: Expressed in various tissues. SIMILARITY: Contains 2 PID domains. SIMILARITY: Contains 1 WW domain.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): APBB3 CDC HuGE Published Literature: APBB3 Positive Disease Associations: Alzheimer's Disease Related Studies:
Alzheimer's Disease Tanahashi H et al. 2002, c954C-->T polymorphism in the Fe65L2 gene is associated with early-onset Alzheimer's disease., Annals of neurology. 2002 Nov;52(5):691-3.
[PubMed 12402277]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95704
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.