PRELP Gene - Proline and Arginine Rich End Leucine Rich Repeat Protein
Comprehensive genomic and proteomic analysis of PRELP, a small leucine-rich proteoglycan involved in extracellular matrix organization and connective tissue disorders.
Gene Information Card
| Symbol | PRELP |
|---|---|
| Full Name | Proline and Arginine Rich End Leucine Rich Repeat Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 5549 ncbi.nlm.nih.gov/gene/5549 |
| Ensembl ID | ENSG00000188783 |
| UniProt ID | P51888 |
| OMIM ID | 601914 |
| HGNC ID | 9357 |
| Aliases | SLRR2A, PBG, prolargin |
Description
PRELP encodes a small leucine-rich proteoglycan (SLRP) that is a component of the extracellular matrix. The protein binds collagen and glycosaminoglycans, contributing to tissue integrity and development. It is primarily expressed in cartilage, bone, and other connective tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered PRELP expression may disrupt cartilage extracellular matrix, contributing to degeneration. | NCBI Gene, OMIM |
| Ehlers-Danlos syndrome (possible) | Defects in SLRPs including PRELP can affect collagen fibrillogenesis, leading to connective tissue fragility. | OMIM, ClinVar |
| Cancer (breast, prostate) | Dysregulation of PRELP expression in tumor stroma may influence tumor progression and metastasis. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 12.5 | Medium |
| Bone | 8.3 | Low |
| Skin | 6.1 | Low |
| Lung | 4.2 | Low |
| Heart | 3.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes | 15.0 | Primary cells |
| Osteoblasts | 9.8 | Primary cells |
| Fibroblasts | 7.2 | Primary cells |
| HEK293 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | <0.01% | Unknown effect; rare variant |
| c.456G>A | Synonymous | <0.01% | No protein change |
| c.789_790insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix organization (GO:0030198) | • collagen binding (GO:0005518) |
| • extracellular space (GO:0005615) | • extracellular matrix structural constituent (GO:0005201) |
Pathways
• Extracellular matrix organization (Reactome:R-HSA-1474244)
• Collagen formation (Reactome:R-HSA-1474290)
Protein Summary
PRELP (prolargin) is a 382-amino acid protein with a signal peptide, a proline-arginine rich N-terminal domain, and leucine-rich repeats. It localizes to the extracellular matrix, where it binds collagen type I and II and modulates fibril assembly. The protein is glycosylated and may play a role in cell adhesion and growth factor signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRELP Knockout HEK293 Cell Line | EDJ-KQ5525 | Human | 5549 | Details Get a Quote |
| PRELP Knockout HeLa Cell Line | EDJ-KQ54203 | Human | 5549 | Details Get a Quote |
| PRELP Knockout A-549 Cell Line | EDJ-KQ62698 | Human | 5549 | Details Get a Quote |
| PRELP Knockout HCT 116 Cell Line | EDJ-KQ71168 | Human | 5549 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
