PCOLCE
Procollagen C-Endopeptidase Enhancer
Gene Information Card
| Symbol | PCOLCE |
|---|---|
| Full Name | Procollagen C-Endopeptidase Enhancer |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 5118 ncbi.nlm.nih.gov/gene/5118 |
| Ensembl ID | ENSG00000106333 |
| UniProt ID | Q15113 |
| OMIM ID | 600270 |
| HGNC ID | 8738 |
| Aliases | PCPE, PCPE1, PCOLCE1 |
Description
PCOLCE encodes a glycoprotein that binds to the C-terminal propeptide of type I procollagen and enhances the activity of bone morphogenetic protein 1 (BMP1) in cleaving the propeptide, a critical step in collagen fibril assembly and extracellular matrix maturation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteogenesis Imperfecta | Loss-of-function mutations impair procollagen processing, leading to brittle bones | PMID: 24668845; ClinVar |
| Fibrosis (liver, lung) | Overexpression of PCOLCE enhances collagen deposition in fibrotic tissues | PMID: 21566064; NCBI Gene |
| Ehlers-Danlos Syndrome | Defective collagen maturation due to PCOLCE variants | ClinVar; OMIM #600270 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Lung | 9.8 | Medium |
| Skin | 8.2 | Medium |
| Heart | 6.1 | Low |
| Skeletal Muscle | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| A549 | 11.7 | Lung adenocarcinoma cell line |
| BJ Fibroblasts | 9.5 | Normal skin fibroblasts |
| MCF7 | 3.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; associated with osteogenesis imperfecta |
| c.497G>A (p.Gly166Asp) | Missense | 0.001% | Impaired BMP1 binding |
| c.1024_1025del (p.Leu342fs) | Frameshift | <0.001% | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations reduce or abolish enhancer activity, leading to defective collagen processing.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Missense variants that disrupt binding to procollagen may exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Collagen biosynthesis and modifying enzymes (Reactome: R-HSA-1650814)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• BMP1-mediated procollagen processing (KEGG: hsa04512)
Protein Summary
PCOLCE (Procollagen C-Endopeptidase Enhancer) is a 55 kDa secreted glycoprotein that binds to the C-propeptide of type I procollagen and enhances its cleavage by BMP1. It contains a netrin-like domain and two CUB domains, which mediate protein-protein interactions. PCOLCE is essential for proper collagen fibril assembly and is implicated in fibrotic diseases and osteogenesis imperfecta.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCOLCE2 Knockout HEK293 Cell Line | EDJ-KQ2655 | Human | 26577 | Details Get a Quote |
| PCOLCE Knockout HEK293 Cell Line | EDJ-KQ5423 | Human | 5118 | Details Get a Quote |
| PCOLCE2 Knockout A-549 Cell Line | EDJ-KQ23434 | Human | 26577 | Details Get a Quote |
| PCOLCE2 Knockout HCT 116 Cell Line | EDJ-KQ23435 | Human | 26577 | Details Get a Quote |
| PCOLCE2 Knockout HeLa Cell Line | EDJ-KQ23436 | Human | 26577 | Details Get a Quote |
| PCOLCE Knockout A-549 Cell Line | EDJ-KQ28591 | Human | 5118 | Details Get a Quote |
| PCOLCE Knockout HCT 116 Cell Line | EDJ-KQ28592 | Human | 5118 | Details Get a Quote |
| PCOLCE Knockout HeLa Cell Line | EDJ-KQ28593 | Human | 5118 | Details Get a Quote |
