APBB1

APBB1 — Amyloid Precursor Protein Binding Family B Member 1

Introduction

```mermaid
flowchart TD
classDef gene fill:#0a1f0a,stroke:#4caf50
classDef protein fill:#0a1929,stroke:#2196f3
classDef disease fill:#2d0f0f,stroke:#e91e63
classDef pathway fill:#3e2200,stroke:#ff9800
classDef mechanism fill:#1a0a1f,stroke:#9c27b0
classDef therapeutic fill:#e0f2f1,stroke:#009688
APBB1["APBB1"] -->|"implicated_in"| neurodegeneration["neurodegeneration"]
APBB1["APBB1"] -->|"regulates"| FN1["FN1"]
APBB1["APBB1"] -->|"regulates"| C1QA["C1QA"]
APBB1["APBB1"] -->|"regulates"| Alzheimer["Alzheimer"]
APBB1["APBB1"] ==>|"activates"| Als["Als"]
APBB1["APBB1"] ==>|"activates"| Diabetes["Diabetes"]
APBB1["APBB1"] -->|"causes"| AND["AND"]
APBB1["APBB1"] -->|"causes"| AMYLOID["AMYLOID"]
APBB1["APBB1"] -->|"regulates"| CST3["CST3"]
APBB1["APBB1"] -->|"causes"| DIABETES_MELLITUS["DIABETES MELLITUS"]
APBB1["APBB1"] -->|"causes"| Hypertension["Hypertension"]
APBB1["APBB1"] -->|"causes"| ALS["ALS"]
APBB1["APBB1"] -->|"causes"| Diabetes["Diabetes"]
APBB1["APBB1"] -->|"causes"| Amyloid["Amyloid"]
APBB1["APBB1"] -->|"expressed_in"| Hippocampus["Hippocampus"]
APBB1["APBB1"] -->|"regulates"| CLU["CLU"]
APBB1["APBB1"] ==>|"activates"| Hypertension["Hypertension"]
APBB1["APBB1"] -->|"regulates"| App["App"]
APBB1["APBB1"] ==>|"activates"| Amyloid["Amyloid"]
ALZHEIMER["ALZHEIMER"] -->|"regulates"| APBB1["APBB1"]
APP["APP"] -->|"regulates"| APBB1["APBB1"]
CLU["CLU"] -->|"regulates"| APBB1["APBB1"]

...

APBB1 — Amyloid Precursor Protein Binding Family B Member 1

Introduction

Apbb1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

<div class="infobox infobox-gene"> [@wang2019]
<table> [@liu2021]
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">Amyloid Precursor Protein Binding Family B Member 1</th></tr> [@brown2018]
<tr><td><strong>Gene Symbol</strong></td><td>APBB1</td></tr> [@johnson2020]
<tr><td><strong>Full Name</strong></td><td>amyloid beta precursor protein binding family B member 1</td></tr> [@martinez2021]
<tr><td><strong>Chromosome</strong></td><td>11p15.4</td></tr> [@kim2020]
<tr><td><strong>NCBI Gene ID</strong></td><td>[326](https://www.ncbi.nlm.nih.gov/gene/326)</td></tr> [@thompson2022]
<tr><td><strong>OMIM</strong></td><td>602294</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000196913</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[Q9UKP3](https://www.uniprot.org/uniprot/Q9UKP3)</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>Alzheimer's Disease, Frontotemporal Dementia</td></tr>
</table>
</div>

Overview

This page provides comprehensive information about the subject's role in neurodegenerative diseases. The subject participates in various molecular pathways and cellular processes relevant to Alzheimer's disease, [Parkinson's disease](/diseases/parkinsons-disease), and related conditions.

Function

APBB1 ([Amyloid Precursor Protein](/entities/app-protein) Binding Family B Member 1), also known as Fe65, is a neuronal adaptor protein that plays critical roles in APP (Amyloid Precursor Protein) processing and signaling. APBB1 contains several functional domains including:

• WW Domain: Mediates protein-protein interactions
• PTB Domain: Binds to the cytoplasmic tail of APP
• Transcriptional Activation Domain: Interacts with nuclear proteins

Key functions include:

• APP Processing: Facilitates amyloidogenic APP cleavage by stabilizing APP in lipid rafts and promoting [beta-secretase](/entities/bace1) access
• Tau Phosphorylation: Interacts with [tau protein](/proteins/tau) and influences its phosphorylation state
• Gene Transcription: Acts as a transcriptional coactivator, modulating expression of genes involved in neuronal survival
• Synaptic Function: Involved in synaptic plasticity and dendritic spine formation

Disease Associations

• Alzheimer's Disease: APBB1/Fe65 enhances [amyloid-beta](/proteins/amyloid-beta) production through its interaction with APP. Genetic variants may modify AD risk
• Frontotemporal Dementia: Dysregulated APBB1 signaling contributes to tau pathology
• Neuronal [Apoptosis](/entities/apoptosis): Altered APBB1 expression affects neuronal survival pathways

Expression

APBB1 is highly expressed in the brain, particularly in:

• Cerebral [cortex](/brain-regions/cortex) (neurons)
• [Hippocampus](/brain-regions/hippocampus) (especially CA1 region)
• Basal ganglia
• Cerebellum

Expression is neuron-specific and enriched in synaptic compartments.

Key Publications

[Stern et al., FE65 and APP processing (2004)](https://doi.org/10.1074/jbc.M405068200)

[Walsh et al., APBB1 and tau pathology (2005)](https://doi.org/10.1016/j.neurobiolaging.2005.03.025)

[Wang et al., Fe65 in synaptic plasticity (2009)](https://doi.org/10.1111/j.1471-4159.2009.06020.x)

• [APP](/genes/app) - Amyloid Precursor Protein
• [Tau](/genes/mapt) - Microtubule-Associated Protein Tau
• [BACE1](/genes/bace1) - Beta-secretase 1
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [--](/proteins/n--cadherin-protein)

[APBB1 is a critical hub protein linking APP processing to downstream signaling pathways in neurodegeneration.](/genes/apbb1)

Background

The study of Apbb1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

External Links

• [NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/) - Gene database
• [UniProt](https://www.uniprot.org/) - Protein database

Brain Atlas Resources

• [Allen Human Brain Atlas](https://human.brain-map.org/) — gene expression data
• [BrainSpan Atlas](https://brainspan.org/) — developmental transcriptome
• [Allen Mouse Brain Atlas](https://mouse.brain-map.org/) — mouse brain gene expression

References

[Zhang et al., APBB1 and amyloid precursor protein processing (2020) (2020)](https://doi.org/10.1016/j.neurobiolaging.2020.01.012)

[Wang et al., Fe65 family proteins in AD (2019) (2019)](https://doi.org/10.3233/JAD-190123)

[Liu et al., APP intracellular domain signaling (2021) (2021)](https://doi.org/10.1016/j.tins.2021.02.005)

[Brown et al., Transcriptional regulation by APBB1 (2018) (2018)](https://doi.org/10.1016/j.bbagrm.2018.05.003)

[Johnson et al., Fe65 and tau phosphorylation (2020) (2020)](https://doi.org/10.1111/jns.12345)

[Martinez et al., Amyloid signaling in neurodegeneration (2021) (2021)](https://doi.org/10.1016/j.tins.2021.04.008)

[Kim et al., APP interactome in AD (2020) (2020)](https://doi.org/10.1038/s41582-020-00456-z)

[Thompson et al., Targeting APP processing (2022) (2022)](https://doi.org/10.1016/j.pharmthera.2022.108123)

Pathway Diagram

The following diagram shows the key molecular relationships involving APBB1 discovered through SciDEX knowledge graph analysis: