LAP3 (Leucine Aminopeptidase 3)
A cytosolic aminopeptidase involved in protein processing, antigen presentation, and oxidative stress response.
Gene Information Card
| Symbol | LAP3 |
|---|---|
| Full Name | Leucine Aminopeptidase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p15.32 |
| NCBI Gene ID | 51056 ncbi.nlm.nih.gov/gene/51056 |
| Ensembl ID | ENSG00000102547 |
| UniProt ID | P28838 |
| OMIM ID | 170250 |
| HGNC ID | 6486 |
| Aliases | LAP, PEPS, LAPEP, MGC104176 |
Description
LAP3 (Leucine Aminopeptidase 3) encodes a cytosolic aminopeptidase that catalyzes the removal of N-terminal leucine and other amino acids from peptides. It plays a role in protein turnover, antigen processing for MHC class I presentation, and protection against oxidative stress. The enzyme is a homodimer and requires zinc for activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of LAP3 promotes tumor cell proliferation and invasion; involved in metabolic reprogramming. | COSMIC; PubMed studies |
| Oxidative stress-related disorders | LAP3 upregulation protects cells from oxidative damage by degrading oxidized proteins. | UniProt; PubMed |
| Autoimmune conditions | Altered LAP3 activity may affect antigen presentation and immune response. | OMIM; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 28.5 | High |
| Liver | 22.3 | High |
| Small intestine | 18.7 | High |
| Lung | 12.1 | Medium |
| Heart | 8.4 | Medium |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.0 | High expression in embryonic kidney cells |
| HepG2 | 20.5 | High in liver carcinoma cells |
| A549 | 15.3 | Moderate in lung carcinoma cells |
| MCF7 | 10.2 | Moderate in breast cancer cells |
| K562 | 5.1 | Low in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.118G>A (p.Gly40Arg) | Missense | <0.01% | Reduced enzymatic activity; potential impact on antigen processing |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.1022A>G (p.Asn341Ser) | Missense | <0.01% | No known disease association |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Gly40Arg) may reduce catalytic activity.
Gain of Function (GOF)
Not documented in literature or curated databases.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Protein digestion and absorption (KEGG hsa04974)
• Aminopeptidase pathway (Reactome R-HSA-1236974)
Protein Summary
LAP3 is a 519-amino-acid cytosolic zinc-dependent aminopeptidase that forms a homodimer. It preferentially cleaves N-terminal leucine residues but also acts on other amino acids. The enzyme is involved in protein maturation, turnover, and antigen processing. It is upregulated in several cancers and under oxidative stress conditions, suggesting roles in tumor progression and cellular defense.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAP3 Knockout HEK293 Cell Line | EDJ-KQ3937 | Human | 51056 | Details Get a Quote |
| LAP3 Knockout HCT 116 Cell Line | EDJ-KQ26178 | Human | 51056 | Details Get a Quote |
| LAP3 Knockout HeLa Cell Line | EDJ-KQ26179 | Human | 51056 | Details Get a Quote |
| LAP3 Knockout A-549 Cell Line | EDJ-KQ24832 | Human | 51056 | Details Get a Quote |
