Aliases for APBB1 Gene
External Ids for APBB1 Gene
Previous HGNC Symbols for APBB1 Gene
Previous GeneCards Identifiers for APBB1 Gene
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. [provided by RefSeq, Mar 2012]
GeneCards Summary for APBB1 Gene
APBB1 (Amyloid Beta Precursor Protein Binding Family B Member 1) is a Protein Coding gene. Diseases associated with APBB1 include Alzheimer Disease and Niemann-Pick Disease, Type B. Among its related pathways are Neuroscience and Tyrosine Kinases / Adaptors. Gene Ontology (GO) annotations related to this gene include chromatin binding and histone binding. An important paralog of this gene is APBB2.
UniProtKB/Swiss-Prot Summary for APBB1 Gene
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 transcription activation activity. Functions 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).