PAPLN (Papilin, Proteoglycan Like Sulfated Glycoprotein)
Gene encoding an extracellular matrix glycoprotein involved in development and potential cancer progression
Gene Information Card
| Symbol | PAPLN |
|---|---|
| Full Name | Papilin, Proteoglycan Like Sulfated Glycoprotein |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.2 |
| NCBI Gene ID | 89932 ncbi.nlm.nih.gov/gene/89932 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9BWT3 |
| OMIM ID | 610182 |
| HGNC ID | 24985 |
| Aliases | PAPL, papilin, DKFZp686K23120 |
Description
PAPLN encodes papilin, a secreted extracellular matrix glycoprotein belonging to the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of proteoglycans. Papilin is characterized by multiple domains including a Kunitz-type protease inhibitor domain, thrombospondin type 1 repeats, and a C-terminal domain. It is involved in extracellular matrix organization, cell adhesion, and developmental processes. Expression is observed in various tissues, with roles in cancer progression and fibrosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect extracellular matrix remodeling and tumor microenvironment | COSMIC, literature |
| Fibrotic diseases | Potential role in extracellular matrix deposition and tissue fibrosis | Literature |
| Developmental disorders | Knockout studies in model organisms suggest involvement in morphogenesis | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Brain | 1.8 | Not detected |
| Breast | 4.7 | Low |
| Colon | 3.1 | Low |
| Heart | 2.5 | Not detected |
| Kidney | 6.8 | Medium |
| Liver | 2.0 | Not detected |
| Lung | 8.9 | Medium |
| Ovary | 12.3 | Medium |
| Pancreas | 1.5 | Not detected |
| Prostate | 7.4 | Medium |
| Skin | 9.1 | Medium |
| Testis | 15.6 | High |
| Thyroid | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.3 | Cervical cancer cell line |
| HepG2 | 2.1 | Hepatocellular carcinoma |
| A549 | 8.7 | Lung adenocarcinoma |
| MCF7 | 4.5 | Breast adenocarcinoma |
| PC3 | 6.2 | Prostate carcinoma |
| K562 | 1.8 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop, likely loss of function |
| c.567G>A (p.Gly189Arg) | Missense | <0.01% | Unknown significance |
| c.890_891insA (p.Gln297fs) | Frameshift | <0.01% | Loss of function |
| c.2345A>G (p.Asn782Ser) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants (e.g., p.Arg412*, p.Gln297fs) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No evidence for dominant-negative effects in current databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• ADAMTS-mediated cleavage of proteoglycans (Reactome: R-HSA-2467813)
Protein Summary
Papilin is a 1,207-amino acid secreted glycoprotein with a molecular weight of approximately 135 kDa. It contains a signal peptide, a Kunitz-type protease inhibitor domain, multiple thrombospondin type 1 repeats, and a C-terminal domain. Papilin is involved in extracellular matrix assembly and remodeling, and may modulate protease activity. Expression is highest in testis, ovary, lung, and skin. Altered expression has been observed in various cancers, suggesting a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAPLN Knockout HEK293 Cell Line | EDJ-KQ10538 | Human | 89932 | Details Get a Quote |
| PAPLN Knockout HCT 116 Cell Line | EDJ-KQ37972 | Human | 89932 | Details Get a Quote |
| PAPLN Knockout HeLa Cell Line | EDJ-KQ37973 | Human | 89932 | Details Get a Quote |
| PAPLN Knockout A-549 Cell Line | EDJ-KQ36675 | Human | 89932 | Details Get a Quote |
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