GULP1: GULP PTB Domain Containing Engulfment Adaptor 1
A key adaptor protein in apoptotic cell clearance and lipid metabolism
Gene Information Card
| Symbol | GULP1 |
|---|---|
| Full Name | GULP PTB Domain Containing Engulfment Adaptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q32.3 |
| NCBI Gene ID | 51485 ncbi.nlm.nih.gov/gene/51485 |
| Ensembl ID | ENSG00000144366 |
| UniProt ID | Q9UBP9 |
| OMIM ID | 608165 |
| HGNC ID | 17765 |
| Aliases | CED-6, GULP, CED6, GULP1A, GULP1B |
Description
GULP1 encodes an adaptor protein containing a phosphotyrosine-binding (PTB) domain that functions in the engulfment of apoptotic cells. It interacts with the cytoplasmic tail of the LDL receptor-related protein 1 (LRP1) and is involved in lipid metabolism and clearance of cellular debris. GULP1 is also implicated in Alzheimer disease and obesity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer Disease | Impaired clearance of apoptotic neurons and amyloid-beta; reduced GULP1 expression may contribute to neurodegeneration. | PMID: 17984056 |
| Obesity | GULP1 deficiency in mice leads to increased adiposity and insulin resistance; human GWAS link variants to body mass index. | PMID: 24762113 |
| Atherosclerosis | Defective efferocytosis in macrophages due to GULP1 loss promotes plaque necrosis. | PMID: 19228691 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Adipose tissue | 6.2 | Medium |
| Liver | 4.1 | Low |
| Lung | 3.8 | Low |
| Spleen | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 9.1 | Neuronal cell line |
| HepG2 | 5.3 | Hepatocellular carcinoma |
| THP-1 | 7.8 | Monocyte/macrophage |
| MCF7 | 2.0 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107C>T (p.Pro36Leu) | Missense | 0.01% (gnomAD) | Reduced binding to LRP1; potential loss of function |
| c.454G>A (p.Gly152Arg) | Missense | 0.005% | Unknown functional effect |
| c.789+1G>A | Splice donor | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants in PTB domain (e.g., p.Pro36Leu) impair LRP1 interaction and engulfment activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic cell clearance | • phosphotyrosine binding |
| • receptor-mediated endocytosis | • lipid transport |
| • phagocytosis |
Pathways
• Efferocytosis (Phagocytosis of apoptotic cells)
• LRP1-mediated signaling
Protein Summary
GULP1 is a 304-amino acid adaptor protein with a single PTB domain. It localizes to the plasma membrane and endosomes, where it bridges engulfment receptors (e.g., LRP1) to the cytoskeleton and signaling machinery. It is essential for efficient clearance of apoptotic cells and modulates lipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GULP1 Knockout HEK293 Cell Line | EDJ-KQ11104 | Human | 51454 | Details Get a Quote |
| GULP1 Knockout A-549 Cell Line | EDJ-KQ39063 | Human | 51454 | Details Get a Quote |
| GULP1 Knockout HeLa Cell Line | EDJ-KQ39065 | Human | 51454 | Details Get a Quote |
| GULP1 Knockout HCT 116 Cell Line | EDJ-KQ37755 | Human | 51454 | Details Get a Quote |
