LAMP1 Gene: Lysosomal-Associated Membrane Protein 1
A key glycoprotein in lysosomal membrane integrity, autophagy, and cellular defense, with emerging roles in cancer and neurodegeneration.
Gene Information Card
| Symbol | LAMP1 |
|---|---|
| Full Name | Lysosomal Associated Membrane Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 3916 ncbi.nlm.nih.gov/gene/3916 |
| Ensembl ID | ENSG00000185896 |
| UniProt ID | P11279 |
| OMIM ID | 153330 |
| HGNC ID | HGNC:6507 |
| Aliases | CD107a, LAMPA, LGP120 |
Description
The LAMP1 gene encodes lysosomal-associated membrane protein 1, a heavily glycosylated type I transmembrane protein predominantly localized to the lysosomal membrane. It constitutes a major component of the lysosomal glycocalyx, providing a protective barrier against lysosomal hydrolases and maintaining lysosomal membrane integrity. LAMP1 is widely used as a canonical marker for lysosomes and is involved in autophagy, phagocytosis, and cholesterol trafficking. It also plays a role in cell adhesion and migration, and its expression is upregulated in various cancers and lysosomal storage disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lysosomal Storage Diseases (e.g., Danon disease, Gaucher disease) | LAMP1 expression is often upregulated as a compensatory mechanism to stabilize lysosomal membranes and enhance lysosomal biogenesis in response to storage material accumulation. | Elevated LAMP1 protein levels observed in patient tissues and cellular models; used as a diagnostic marker for lysosomal mass. |
| Cancer (e.g., colorectal, pancreatic, melanoma) | LAMP1 promotes tumor cell invasion and metastasis by facilitating lysosomal exocytosis, which releases cathepsins and matrix metalloproteinases to degrade the extracellular matrix. It also supports cancer cell migration via interaction with galectin-3. | High LAMP1 expression correlates with poor prognosis and metastatic potential in multiple cancer types; functional studies show reduced invasion upon LAMP1 knockdown. |
| Neurodegenerative diseases (e.g., Alzheimer's, Parkinson's) | LAMP1-positive lysosomes accumulate in dystrophic neurites and around amyloid plaques, indicating impaired autophagic flux and lysosomal dysfunction contributing to neurodegeneration. | Immunohistochemical studies show increased LAMP1 staining in affected brain regions; genetic models of autophagy deficiency exhibit LAMP1 accumulation. |
| Infectious diseases (e.g., Ebola, SARS-CoV-2) | LAMP1 is exploited by viruses for cell entry and egress. Viral glycoproteins interact with LAMP1 to facilitate fusion or budding from lysosomal compartments. | Studies demonstrate LAMP1 co-localization with viral particles; LAMP1 knockdown reduces viral infectivity in cell culture. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 43.2 | High |
| Spleen | 38.5 | High |
| Bone marrow | 35.1 | High |
| Lung | 28.7 | Medium |
| Liver | 25.4 | Medium |
| Brain | 12.3 | Low |
| Muscle | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 45.6 | Strong lysosomal staining; used as positive control for LAMP1. |
| HepG2 (liver cancer) | 38.2 | High expression; associated with secretory lysosomes. |
| A549 (lung cancer) | 30.1 | Moderate expression; involved in autophagy regulation. |
| Jurkat (T-cell leukemia) | 52.3 | High surface expression upon activation; marker for degranulation. |
| SH-SY5Y (neuroblastoma) | 15.4 | Low basal expression; inducible under stress conditions. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1150G>A (p.Gly384Arg) | Missense | Rare (<0.01%) | Predicted to affect protein stability; not clearly pathogenic. |
| c.789_790insA (frameshift) | Insertion | Very rare | Predicted to cause loss of function; no clinical phenotype reported. |
| c.−32C>T (5' UTR) | Regulatory | 0.5% (population) | May alter translation efficiency; no known disease association. |
| c.1533C>T (p.Ser511=) | Synonymous | 1.2% (population) | No effect on protein sequence; benign polymorphism. |
Mutation functional classification
Loss of Function (LOF)
Complete loss of LAMP1 is not observed in humans, likely due to embryonic lethality. Partial loss-of-function mutations may impair lysosomal membrane stability, leading to increased lysosomal permeability and cell death, but no pathogenic germline mutations have been confirmed.
Gain of Function (GOF)
No gain-of-function mutations have been reported. Overexpression of wild-type LAMP1 in cancers is considered a functional gain at the expression level, promoting metastasis.
Dominant Negative (DN)
No dominant-negative mutations have been described. LAMP1 functions as a monomer; a mutant allele would not interfere with the wild-type protein's function.
View complete mutation data：
Gene Ontology (GO)
| • lysosomal membrane | • integral component of membrane |
| • protein binding | • carbohydrate binding |
| • autophagy | • lysosome organization |
| • cell adhesion | • immune response |
| • response to stress | • cholesterol homeostasis |
Pathways
• Lysosome (KEGG hsa04142)
• Autophagy - animal (KEGG hsa04140)
• Fc gamma R-mediated phagocytosis (KEGG hsa04666)
• Endocytosis (KEGG hsa04144)
• Antigen processing and presentation (KEGG hsa04612)
Protein Summary
LAMP1 is a 417-amino acid type I transmembrane protein with a large, heavily N-glycosylated luminal domain (approximately 350 amino acids) and a short C-terminal cytoplasmic tail containing a YXXI motif for lysosomal targeting. The protein is synthesized in the ER and trafficked through the Golgi to endosomes and lysosomes. Its extensive glycosylation (up to 20 N-linked glycans) forms a protective 'sugar coat' on the inner lysosomal membrane, shielding it from degradation by acid hydrolases. LAMP1 is also present on the plasma membrane of activated immune cells (e.g., cytotoxic T lymphocytes) where it marks degranulation. It interacts with galectins, facilitating cell adhesion and migration. In cancer, LAMP1 promotes invasion by driving lysosomal exocytosis of proteases. It is a widely used marker for lysosomal mass and autophagy flux assessment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMP1 Knockout HEK293 Cell Line | EDJ-KQ3710 | Human | 3916 | Details Get a Quote |
| LAMP1 Knockout A-549 Cell Line | EDJ-KQ25740 | Human | 3916 | Details Get a Quote |
| LAMP1 Knockout HCT 116 Cell Line | EDJ-KQ25741 | Human | 3916 | Details Get a Quote |
| LAMP1 Knockout HeLa Cell Line | EDJ-KQ25742 | Human | 3916 | Details Get a Quote |
| LAMP1-mGFP Overexpression THP-1 Stable Cell Line | EDC01712 | Human | / | Details Get a Quote |
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