APBB1IP
Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein
Gene Information Card
| Symbol | APBB1IP |
|---|---|
| Full Name | Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 10p12.1 |
| NCBI Gene ID | 54518 ncbi.nlm.nih.gov/gene/54518 |
| Ensembl ID | ENSG00000120068 |
| UniProt ID | Q8N2G8 |
| OMIM ID | 609693 |
| HGNC ID | 24004 |
| Aliases | RARP1, PREL1, Rap1 GTPase activating protein, RIAM |
Description
APBB1IP (Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein) encodes a protein that interacts with the amyloid beta precursor protein (APP) family and functions as a Rap1 GTPase activator. It plays a role in cell adhesion, migration, and cytoskeletal dynamics, particularly in neurons and immune cells. The gene is implicated in Alzheimer disease and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | APBB1IP interacts with APP and may influence amyloid beta processing and neuronal migration | PMID: 14532270 |
| Colorectal cancer | Overexpression of APBB1IP is associated with tumor progression and metastasis | PMID: 23542345 |
| Breast cancer | APBB1IP expression correlates with poor prognosis and invasive phenotype | PMID: 25609812 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 15.2 | Medium |
| Breast | 6.1 | Low |
| Blood | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.7 | Neuronal model |
| HEK293 (embryonic kidney) | 9.2 | High expression |
| MCF7 (breast cancer) | 7.5 | Moderate expression |
| HCT116 (colorectal cancer) | 14.3 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional effect |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature truncation are predicted to cause loss of Rap1 GAP activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • Rap GTPase activator activity | • protein binding |
| • cell adhesion | • neuron projection development |
| • cytoskeleton organization |
Pathways
• Rap1 signaling pathway
• Integrin signaling
• Axon guidance
Protein Summary
The APBB1IP protein (also known as RIAM) is a Rap1 GTPase-activating protein that regulates cell adhesion and migration by modulating integrin activation. It contains a PH domain, a RA domain, and a proline-rich region, and interacts with APP family members. The protein is expressed in brain, colon, and immune cells, and its dysregulation is linked to Alzheimer disease and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APBB1IP Knockout HEK293 Cell Line | EDJ-KQ1326 | Human | 54518 | Details Get a Quote |
| APBB1IP Knockout A-549 Cell Line | EDJ-KQ20765 | Human | 54518 | 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 |
