LAPTM5
Lysosomal Associated Transmembrane Protein 5
Gene Information Card
| Symbol | LAPTM5 |
|---|---|
| Full Name | Lysosomal Associated Transmembrane Protein 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p35.2 |
| NCBI Gene ID | 7805 ncbi.nlm.nih.gov/gene/7805 |
| Ensembl ID | ENSG00000162594 |
| UniProt ID | Q13571 |
| OMIM ID | 601979 |
| HGNC ID | 6510 |
| Aliases | CLAST6, LAPTM5 |
Description
LAPTM5 encodes a lysosomal-associated transmembrane protein that localizes to lysosomes and endosomes. It is involved in vesicular trafficking, immune cell signaling, and regulation of cell growth. The protein contains four transmembrane domains and is highly expressed in hematopoietic cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Overexpression may promote tumor growth via altered lysosomal function | COSMIC, NCBI Gene |
| Breast cancer | Dysregulation of LAPTM5 expression linked to poor prognosis | COSMIC, NCBI Gene |
| Immune system disorders | Altered expression in lymphocytes affects immune signaling | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 45.2 | High |
| Spleen | 38.7 | High |
| Bone marrow | 32.1 | High |
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 52.4 | High expression |
| HEK293 (embryonic kidney) | 15.6 | Moderate expression |
| MCF7 (breast cancer) | 22.1 | Moderate expression |
| A549 (lung cancer) | 18.9 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | missense | 0.02% | Unknown functional effect |
| c.341G>A (p.Arg114Gln) | missense | 0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • lysosome (GO:0005764) | • integral component of membrane (GO:0016021) |
| • intracellular protein transport (GO:0006886) | • autophagy (GO:0006914) |
| • intracellular membrane-bounded organelle (GO:0043231) |
Pathways
• Lysosome (Reactome: R-HSA-421837)
• Autophagy (Reactome: R-HSA-9612973)
Protein Summary
LAPTM5 is a 262-amino acid lysosomal transmembrane protein with four membrane-spanning domains. It functions in lysosomal/endosomal trafficking and is implicated in immune cell activation and cancer progression. The protein interacts with components of the endocytic pathway and may regulate autophagy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAPTM5 Knockout HEK293 Cell Line | EDJ-KQ1274 | Human | 7805 | Details Get a Quote |
| LAPTM5 Knockout HeLa Cell Line | EDJ-KQ18212 | Human | 7805 | Details Get a Quote |
| LAPTM5 Knockout A-549 Cell Line | EDJ-KQ63289 | Human | 7805 | Details Get a Quote |
| LAPTM5 Knockout HCT 116 Cell Line | EDJ-KQ71756 | Human | 7805 | Details Get a Quote |
