Homo sapiens Protein: APBB1 | |||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||
InnateDB Protein | IDBP-28789.7 | ||||||||||||||||||||||||
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 (Fe65) | ||||||||||||||||||||||||
Synonyms | FE65; MGC:9072; RIR; | ||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||
Ensembl Protein | ENSP00000311912 | ||||||||||||||||||||||||
InnateDB Gene | IDBG-28785 (APBB1) | ||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||
Function | 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 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:15031292, ECO:0000269PubMed:18468999, ECO:0000269PubMed:18922798, ECO:0000269PubMed:19234442, ECO:0000269PubMed:19343227}. | ||||||||||||||||||||||||
Subcellular Localization | Cell membrane. Cytoplasm. Nucleus. Cell projection, growth cone {ECO:0000250}. Nucleus speckle. Note=Colocalizes with TSHZ3 in axonal growth cone (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. Colocalizes with TSHZ3 in the nucleus. Colocalizes with NEK6 at the nuclear speckles. Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By similarity). {ECO:0000250}. | ||||||||||||||||||||||||
Disease Associations | |||||||||||||||||||||||||
Tissue Specificity | Highly expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease. {ECO:0000269PubMed:19343227}. | ||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 84 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||
InterPro |
IPR001202
WW domain IPR006020 PTB/PI domain |
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PFAM |
PF00397
PF00640 PF14719 |
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PRINTS | |||||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||||
SMART |
SM00456
SM00462 |
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TIGRFAMs | |||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||
SwissProt | O00213 | ||||||||||||||||||||||||
PhosphoSite | PhosphoSite-O00213 | ||||||||||||||||||||||||
TrEMBL | V9GYR7 | ||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | 322 | ||||||||||||||||||||||||
UniGene | Hs.372840 | ||||||||||||||||||||||||
RefSeq | NP_663722 | ||||||||||||||||||||||||
HUGO | HGNC:581 | ||||||||||||||||||||||||
OMIM | 602709 | ||||||||||||||||||||||||
CCDS | CCDS31410 | ||||||||||||||||||||||||
HPRD | 04087 | ||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | AC068733 AC084337 AF029234 AF047835 AK293550 AK293554 AK293643 AK295241 BC010854 BX538185 CH471064 EF103274 L77864 | ||||||||||||||||||||||||
GenPept | AAB93631 AAC79942 AAH10854 ABL07489 BAH11531 BAH11532 BAH11554 BAH12016 CAD98057 EAW68723 EAW68724 | ||||||||||||||||||||||||