LAMP5: Lysosomal Associated Membrane Protein Family Member 5
A neuronal and immune-related lysosomal protein with roles in synaptic function and cancer
Gene Information Card
| Symbol | LAMP5 |
|---|---|
| Full Name | Lysosomal Associated Membrane Protein Family Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p12.3 |
| NCBI Gene ID | 24141 ncbi.nlm.nih.gov/gene/24141 |
| Ensembl ID | ENSG00000125869 |
| UniProt ID | Q9UJQ4 |
| OMIM ID | 616205 |
| HGNC ID | 16076 |
| Aliases | BAD-LAMP, C20orf103, LAMP-5 |
Description
LAMP5 (Lysosomal Associated Membrane Protein Family Member 5) encodes a member of the lysosomal-associated membrane protein (LAMP) family. The protein is predominantly expressed in neurons and immune cells, where it localizes to lysosomes and synaptic vesicles. LAMP5 is involved in lysosomal biogenesis, synaptic vesicle recycling, and immune synapse formation. It has been implicated in neurodevelopmental disorders and certain cancers, including lung adenocarcinoma and melanoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Adenocarcinoma | Overexpression of LAMP5 promotes tumor cell proliferation and migration via altered lysosomal function. | COSMIC, ClinVar |
| Melanoma | LAMP5 expression correlates with poor prognosis and immune evasion mechanisms. | COSMIC, NCBI |
| Neurodevelopmental Disorders | Rare variants in LAMP5 may disrupt synaptic vesicle trafficking, contributing to intellectual disability. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Lung | 3.2 | Medium |
| Spleen | 2.8 | Medium |
| Liver | 0.5 | Low |
| Heart | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.1 | Neuronal model, high expression |
| A549 (lung carcinoma) | 8.4 | Overexpressed in lung cancer |
| SK-MEL-28 (melanoma) | 6.7 | Moderate expression |
| HEK293 (embryonic kidney) | 1.2 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | 0.01% | Unknown functional impact; reported in ClinVar |
| c.112C>T (p.Arg38Trp) | Missense | 0.005% | Likely benign; no disease association |
| c.421_423del (p.Phe141del) | In-frame deletion | <0.001% | Reported in COSMIC for lung cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in lung adenocarcinoma suggests potential gain-of-function role in tumorigenesis.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • lysosomal membrane | • synaptic vesicle membrane |
| • protein binding | • immune synapse |
| • lysosome organization |
Pathways
• Lysosome (KEGG hsa04142)
• Synaptic vesicle cycle (KEGG hsa04721)
• Immune system (Reactome R-HSA-168256)
Protein Summary
LAMP5 is a 280-amino acid type I transmembrane protein with a conserved luminal domain and a short cytoplasmic tail. It is glycosylated and localizes to lysosomes and synaptic vesicles. In neurons, LAMP5 regulates synaptic vesicle recycling and neurotransmitter release. In immune cells, it participates in lysosomal exocytosis during immune synapse formation. Overexpression in cancers suggests a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMP5 Knockout HEK293 Cell Line | EDJ-KQ8142 | Human | 24141 | Details Get a Quote |
| LAMP5 Knockout HeLa Cell Line | EDJ-KQ55807 | Human | 24141 | Details Get a Quote |
| LAMP5 Knockout A-549 Cell Line | EDJ-KQ64302 | Human | 24141 | Details Get a Quote |
| LAMP5 Knockout HCT 116 Cell Line | EDJ-KQ72753 | Human | 24141 | Details Get a Quote |
