APLP1 (Amyloid Beta Precursor Like Protein 1)
A member of the amyloid precursor protein family implicated in synaptic function and Alzheimer's disease-related pathways
Gene Information Card
| Symbol | APLP1 |
|---|---|
| Full Name | Amyloid Beta Precursor Like Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 334 ncbi.nlm.nih.gov/gene/334 |
| Ensembl ID | ENSG00000105290 |
| UniProt ID | P51693 |
| OMIM ID | 104775 |
| HGNC ID | 597 |
| Aliases | APLP, amyloid beta (A4) precursor-like protein 1 |
Description
APLP1 (Amyloid Beta Precursor Like Protein 1) is a member of the amyloid precursor protein (APP) family, which includes APP and APLP2. It encodes a type I transmembrane glycoprotein that is cleaved by secretases similar to APP. APLP1 is involved in synaptic adhesion, neurite outgrowth, and cell signaling. It is highly expressed in the brain and has been implicated in Alzheimer's disease pathology, though it does not generate amyloid-beta peptides. APLP1 knockout mice exhibit synaptic deficits and behavioral abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | APLP1 may modulate APP processing and synaptic function; altered expression observed in AD brains | NCBI Gene, OMIM |
| Intellectual disability | Rare variants in APLP1 have been associated with neurodevelopmental phenotypes | ClinVar |
| Cancer (breast, lung) | APLP1 overexpression or aberrant splicing reported in some tumors; potential role in cell adhesion and migration | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 32.5 | High |
| Brain (hippocampus) | 28.1 | High |
| Brain (cerebellum) | 15.3 | Medium |
| Testis | 8.2 | Low |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.2 | High expression |
| HEK293 (embryonic kidney) | 12.8 | Moderate expression |
| HeLa (cervical carcinoma) | 6.5 | Low expression |
| MCF7 (breast cancer) | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Unknown functional effect; reported in neurodevelopmental disorder |
| c.454C>T (p.Arg152Cys) | Missense | <0.01% | Potential loss of function; associated with intellectual disability |
| c.789_790insA (p.Gln264Thrfs*12) | Frameshift | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or nonsense-mediated decay are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for APLP1.
Dominant Negative (DN)
Missense mutations that disrupt protein-protein interactions or trafficking may act in a dominant-negative manner, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Alzheimer's disease - presenilin pathway (Reactome: R-HSA-977225)
• APP processing (Reactome: R-HSA-5663202)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
APLP1 is a 651-amino acid type I transmembrane protein with a large extracellular domain containing E1 and E2 domains, a Kunitz-type protease inhibitor domain, and a cytoplasmic tail with a YENPTY motif. It is cleaved by alpha-, beta-, and gamma-secretases, producing soluble N-terminal fragments and intracellular domains. APLP1 functions in synaptic adhesion and signaling, and its processing is linked to Alzheimer's disease mechanisms. The protein is predominantly expressed in the brain and is essential for normal synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APLP1 Knockout HEK293 Cell Line | EDJ-KQ3187 | Human | 333 | Details Get a Quote |
| APLP1 Knockout A-549 Cell Line | EDJ-KQ23242 | Human | 333 | Details Get a Quote |
| APLP1 Knockout HCT 116 Cell Line | EDJ-KQ24626 | Human | 333 | Details Get a Quote |
| APLP1 Knockout HeLa Cell Line | EDJ-KQ24627 | Human | 333 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
