Molecular Target Synopsis
Domains and Structures
Drugs and Clinical Candidates
Ligand Efficiency Plot
Family Cladogram
Interaction Network
Gene Expression
Gene Copy Number Variation
Germline Genetics

APBB1 (O00213) - Overview - Molecular Target Synopsis


APBB1, Amyloid-beta A4 precursor protein-binding family B member 1
UniProt O00213

Also Known as APBB1_HUMAN, APBB1, FE65, RIR

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. 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). Component of a complex, at least composed of APBB1, RASD1/DEXRAS1 and APP. Interacts (via PID domain 2) with APP (with the intracellular domain of the amyloid-beta precursor protein). Interacts (via PID domain 2) with RASD1/DEXRAS1; impairs the transcription activation activity. Interacts (via PID domain 1) with KAT5/TIP60. Interacts (via the WW domain) with the proline-rich region of APBB1IP. Interacts with TSHZ1 and TSHZ2 (By similarity). Interacts (via the WW domain) with histone H2AX (when phosphorylated on 'Tyr-142') and the proline-rich region of ENAH. Interacts with MAPK8. Interacts (via PID domain 1) with TSHZ3 (via homeobox domain). Interacts with SET. Found in a trimeric complex with HDAC1 and TSHZ3; the interaction between HDAC1 and APBB1 is mediated by TSHZ3. Interacts (via WWW domain) with NEK6. Interacts (via WWW domain) with ABL1. Interacts with RNF157 (PubMed:25342469).

Inspect Structure
See all 3D Structures for APBB1

Isoforms / Transcripts (Protein Coding)

Sub-cellular localization

UniProt: APBB1 is active in the following subcellular-locations: cell membrane, cell projection, cytoplasm, growth cone, nucleus, nucleus speckle.
GO terms: APBB1 is active in the following subcellular-locations: cytoplasm, dendritic spine, growth cone, growth cone filopodium, growth cone lamellipodium, lamellipodium, main axon, neuronal cell body, nuclear speck, nucleoplasm, nucleus, perinuclear region of cytoplasm, plasma membrane, postsynaptic membrane, presynaptic membrane, protein-containing complex, synapse.

GO terms

Gene Copy Number Variation

In COSMIC - Cell Lines Project APBB1 has gain in 0 cell-lines, loss in 2 cell-lines and no signal in 1003 cell-lines. (see details)

Gene Expression

In NCI60, the highest expressing cell lines are: SNB_75, SK_MEL_28, EKVX

In Array Express (RNA-seq of 675 commonly used human cancer cell lines), the highest expressing cell lines are: NCI-H209, A-673, SK-N-DZ

In Array Express (RNA-seq of long poly adenylated RNA and long non poly adenylated RNA from ENCODE cell lines), the highest expressing cell lines are: SK-N-SH, NHLF, HUVEC

(see details)

3D Structures

For APBB1 there are:
11 structures (31 chains) solved
0 are solved in complex with at least one small molecule ligand

(see details)
Molecular Target 3D Synopsis