APBB1 Back

amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)

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NCBI Description of APBB1

The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Community Annotation of APBB1 Add / Edit APBB1: Annotations

No community annotations yet for APBB1.
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

APBB1 is highly significantly mutated in
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APBB1 is significantly mutated in
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APBB1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for APBB1