Mus musculus Protein: Apbb1
Summary
InnateDB Protein IDBP-204736.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Apbb1
Protein Name amyloid beta (A4) precursor protein-binding, family B, member 1
Synonyms Fe65; Rir;
Species Mus musculus
Ensembl Protein ENSMUSP00000079932
InnateDB Gene IDBG-204734 (Apbb1)
Protein Structure
UniProt Annotation
Function 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). {ECO:0000269PubMed:17121854}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:17121854}. Cytoplasm {ECO:0000269PubMed:17121854}. Nucleus {ECO:0000269PubMed:17121854}. Cell projection, growth cone {ECO:0000250}. Nucleus speckle {ECO:0000250}. Note=Colocalizes with TSHZ3 in the nucleus and in axonal growth cone. Colocalizes with NEK6 at the nuclear speckles (By similarity). In normal conditions, it mainly localizes to the cytoplasm, while a small fraction is tethered to the cell membrane via its interaction with APP. Following exposure to DNA damaging agents, it is released from cell membrane and translocates to the nucleus. Nuclear translocation is under the regulation of APP. Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By similarity). {ECO:0000250}.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 27 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 27 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001540 beta-amyloid binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0035035 histone acetyltransferase binding
GO:0042393 histone binding
GO:0070064 proline-rich region binding
Biological Process
GO:0001764 neuron migration
GO:0006302 double-strand break repair
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
GO:0006974 cellular response to DNA damage stimulus
GO:0007050 cell cycle arrest
GO:0007411 axon guidance
GO:0008542 visual learning
GO:0030048 actin filament-based movement
GO:0030198 extracellular matrix organization
GO:0030308 negative regulation of cell growth
GO:0043065 positive regulation of apoptotic process
GO:0043967 histone H4 acetylation
GO:0045665 negative regulation of neuron differentiation
GO:0045739 positive regulation of DNA repair
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050760 negative regulation of thymidylate synthase biosynthetic process
GO:0050821 protein stabilization
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016607 nuclear speck
GO:0030027 lamellipodium
GO:0030426 growth cone
GO:0045202 synapse
Protein Structure and Domains
PDB ID MGI:107765
InterPro IPR001202 WW domain
IPR006020 PTB/PI domain
IPR013625 Tensin phosphotyrosine-binding domain
PFAM PF00397
PF00640
PF14719
PF08416
PRINTS
PIRSF
SMART SM00456
SM00462
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9QXJ1
PhosphoSite PhosphoSite-Q9QXJ1
TrEMBL
UniProt Splice Variant
Entrez Gene 11785
UniGene Mm.38469
RefSeq
MGI ID
MGI Symbol Apbb1
OMIM
CCDS
HPRD
IMGT
EMBL AC125227 AF206720 AK030748 AK083830 AK164140 L77865
GenPept AAB51603 AAF20141 BAC27116 BAC39033 BAE37645