PIR (Pirin)
Pirin Gene - Function, Expression, and Disease Associations
Gene Information Card
| Symbol | PIR |
|---|---|
| Full Name | Pirin |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 8544 ncbi.nlm.nih.gov/gene/8544 |
| Ensembl ID | ENSG00000102144 |
| UniProt ID | O00625 |
| OMIM ID | 300231 |
| HGNC ID | 8982 |
| Aliases | PIR, pirin |
Description
PIR (Pirin) encodes a nuclear protein that belongs to the cupin superfamily. It functions as a transcriptional cofactor and may regulate NF-kappa-B and other transcription factors. Pirin is involved in cellular processes such as apoptosis, cell migration, and oxidative stress response. The gene is located on the X chromosome and is associated with several cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Pirin overexpression promotes cell migration and invasion via NF-κB activation | PMID: 23455478 |
| Breast cancer | Pirin upregulation correlates with poor prognosis and increased metastasis | PMID: 25636874 |
| Colorectal cancer | Pirin expression is elevated and associated with tumor progression | PMID: 27121312 |
| Inflammatory bowel disease | Pirin modulates NF-κB activity in intestinal epithelial cells | PMID: 19029981 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 14.2 | Medium |
| Liver | 9.8 | Low |
| Kidney | 12.5 | Medium |
| Breast | 11.0 | Medium |
| Skin | 15.1 | Medium |
| Colon | 13.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 16.3 | High expression |
| MCF7 (breast) | 12.1 | Medium expression |
| HepG2 (liver) | 8.5 | Low expression |
| HT-29 (colon) | 14.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215C>T (p.Pro72Leu) | Missense | <0.01% | Unknown functional effect |
| c.458G>A (p.Arg153Gln) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role, but no specific activating mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kappa B signaling pathway (Reactome: R-HSA-9013408)
• Apoptosis (KEGG: hsa04210)
Protein Summary
Pirin is a 290-amino acid nuclear protein (UniProt O00625) with a cupin-type beta-barrel domain. It binds to the transcription factor NF-κB and modulates its activity. Pirin also interacts with BCL3 and other cofactors to regulate gene expression. The protein is involved in oxidative stress sensing via iron binding. Its expression is elevated in multiple cancers, suggesting a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIR Knockout HEK293 Cell Line | EDJ-KQ5587 | Human | 8544 | Details Get a Quote |
| PIRT Knockout HEK293 Cell Line | EDJ-KQ14771 | Human | 644139 | Details Get a Quote |
| PIR Knockout A-549 Cell Line | EDJ-KQ30170 | Human | 8544 | Details Get a Quote |
| PIR Knockout HCT 116 Cell Line | EDJ-KQ30172 | Human | 8544 | Details Get a Quote |
| PIR Knockout HeLa Cell Line | EDJ-KQ30173 | Human | 8544 | Details Get a Quote |
| PIRT Knockout HeLa Cell Line | EDJ-KQ60565 | Human | 644139 | Details Get a Quote |
| PIRT Knockout A-549 Cell Line | EDJ-KQ69035 | Human | 644139 | Details Get a Quote |
| PIRT Knockout HCT 116 Cell Line | EDJ-KQ77391 | Human | 644139 | Details Get a Quote |
