APBB1: Amyloid Beta Precursor Protein Binding Family B Member 1
A key adaptor protein in neuronal signaling and Alzheimer's disease pathology
Gene Information Card
| Symbol | APBB1 |
|---|---|
| Full Name | Amyloid Beta Precursor Protein Binding Family B Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 322 ncbi.nlm.nih.gov/gene/322 |
| Ensembl ID | ENSG00000166313 |
| UniProt ID | O00213 |
| OMIM ID | 602709 |
| HGNC ID | 581 |
| Aliases | FE65, MGC:9072, RIR |
Description
APBB1 (Amyloid Beta Precursor Protein Binding Family B Member 1) encodes a member of the Fe65 protein family, which functions as an adaptor protein. It interacts with the intracellular domain of amyloid-beta precursor protein (APP) and plays a role in transcriptional regulation, cell signaling, and neuronal development. APBB1 is implicated in Alzheimer's disease through its involvement in APP processing and beta-amyloid generation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | APBB1 binds to APP intracellular domain (AICD), modulating APP processing and Aβ production; altered expression may contribute to amyloid plaque formation. | PMID: 10465789; NCBI GeneRIF |
| Intellectual disability | Rare variants in APBB1 have been associated with neurodevelopmental phenotypes, possibly via disrupted neuronal signaling. | ClinVar; PMID: 25439727 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 6.1 | Low |
| Heart | 4.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuroblastoma; high expression relevant to neuronal studies |
| HEK293 | 9.8 | Embryonic kidney; moderate expression |
| HeLa | 7.4 | Cervical carcinoma; moderate expression |
| HepG2 | 3.2 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown; reported in neurodevelopmental disorder |
| c.1567G>A (p.Gly523Ser) | Missense | <0.01% | Unknown; ClinVar uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in APBB1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in APBB1.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in APBB1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • transcription coactivator activity |
| • amyloid-beta binding | • nucleus |
| • cytoplasm | • cell junction |
| • neuron projection |
Pathways
• APP processing (Reactome: R-HSA-977225)
• Notch signaling (Reactome: R-HSA-157118)
• Transcriptional regulation by APBB1 (KEGG: hsa05010)
Protein Summary
APBB1 (FE65) is a 710-amino acid adaptor protein containing a WW domain and two phosphotyrosine-binding (PTB) domains. It shuttles between the nucleus and cytoplasm, interacting with APP, transcription factors, and cytoskeletal components. FE65 modulates APP processing, gene transcription, and cell motility, with critical roles in neuronal development and Alzheimer's disease pathogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APBB1IP Knockout HEK293 Cell Line | EDJ-KQ1326 | Human | 54518 | Details Get a Quote |
| APBB1 Knockout HEK293 Cell Line | EDJ-KQ4064 | Human | 322 | Details Get a Quote |
| APBB1IP Knockout A-549 Cell Line | EDJ-KQ20765 | Human | 54518 | Details Get a Quote |
| APBB1 Knockout A-549 Cell Line | EDJ-KQ26431 | Human | 322 | Details Get a Quote |
| APBB1 Knockout HCT 116 Cell Line | EDJ-KQ26432 | Human | 322 | Details Get a Quote |
| APBB1 Knockout HeLa Cell Line | EDJ-KQ26433 | Human | 322 | Details Get a Quote |
| APBB1IP Knockout HeLa Cell Line | EDJ-KQ56429 | Human | 54518 | Details Get a Quote |
| APBB1IP Knockout HCT 116 Cell Line | EDJ-KQ73366 | Human | 54518 | Details Get a Quote |
