PGLYRP3 Gene - Peptidoglycan Recognition Protein 3
A key innate immunity gene encoding a peptidoglycan recognition protein involved in bacterial sensing and host defense.
Gene Information Card
| Symbol | PGLYRP3 |
|---|---|
| Full Name | Peptidoglycan Recognition Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 114771 ncbi.nlm.nih.gov/gene/114771 |
| Ensembl ID | ENSG00000163221 |
| UniProt ID | Q96LB8 |
| OMIM ID | 608197 |
| HGNC ID | 30015 |
| Aliases | PGRP3, PGLYRPL, PGRP-L, PGRP-1a |
Description
PGLYRP3 encodes a member of the peptidoglycan recognition protein (PGRP) family, which are pattern recognition receptors that bind bacterial peptidoglycan and play a role in innate immunity. The protein is secreted and can directly kill bacteria. It is expressed in various tissues, particularly in the skin, oral mucosa, and gastrointestinal tract, where it contributes to host defense against microbial pathogens.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease (IBD) | Altered PGLYRP3 expression may disrupt bacterial sensing and clearance, contributing to chronic intestinal inflammation. | Association studies (PMID: 17952073) |
| Psoriasis | Reduced PGLYRP3 expression in skin may impair antimicrobial defense, promoting microbial-driven inflammation. | Gene expression studies (PMID: 21151178) |
| Bacterial infections | Loss-of-function variants may increase susceptibility to bacterial infections due to impaired peptidoglycan recognition. | Functional studies (UniProt) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.3 | Medium |
| Oral mucosa | 15.2 | High |
| Stomach | 6.1 | Low |
| Small intestine | 4.8 | Low |
| Colon | 3.2 | Low |
| Bone marrow | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 18.4 | High expression |
| A549 (lung epithelial) | 2.1 | Low expression |
| HeLa (cervical) | 0.8 | Not detected |
| THP-1 (monocytes) | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.0002 (gnomAD) | Unknown functional effect |
| c.544G>A (p.Gly182Arg) | Missense | 0.0001 (gnomAD) | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | 0.00005 (gnomAD) | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss variant (p.Met1Val) likely abolishes protein translation.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Innate immune system (Reactome: R-HSA-168249)
• Peptidoglycan recognition (Reactome: R-HSA-6798743)
Protein Summary
PGLYRP3 is a secreted peptidoglycan recognition protein that binds bacterial cell wall peptidoglycan, triggering antibacterial responses. It is composed of a signal peptide and a PGRP domain. The protein can directly kill bacteria and modulate immune responses. It is expressed in epithelial tissues, especially skin and oral mucosa, and is implicated in inflammatory diseases and host defense.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGLYRP3 Knockout HEK293 Cell Line | EDJ-KQ7455 | Human | 114771 | Details Get a Quote |
| PGLYRP3 Knockout HeLa Cell Line | EDJ-KQ57925 | Human | 114771 | Details Get a Quote |
| PGLYRP3 Knockout A-549 Cell Line | EDJ-KQ66416 | Human | 114771 | Details Get a Quote |
| PGLYRP3 Knockout HCT 116 Cell Line | EDJ-KQ74842 | Human | 114771 | Details Get a Quote |
