PADI1: Peptidyl Arginine Deiminase 1
A key enzyme in citrullination, implicated in immune regulation and epithelial differentiation.
Gene Information Card
| Symbol | PADI1 |
|---|---|
| Full Name | Peptidyl Arginine Deiminase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 29943 ncbi.nlm.nih.gov/gene/29943 |
| Ensembl ID | ENSG00000142627 |
| UniProt ID | Q9ULC6 |
| OMIM ID | 607366 |
| HGNC ID | 18368 |
| Aliases | PAD1, PAD I, PADI1_HUMAN |
Description
PADI1 encodes a member of the peptidyl arginine deiminase family of enzymes that catalyze the post-translational conversion of arginine residues to citrulline (citrullination) in a calcium-dependent manner. This process alters protein structure and function, playing roles in epithelial differentiation, gene regulation, and immune responses. PADI1 is predominantly expressed in skin, esophagus, and other stratified epithelia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | Citrullination of proteins by PADI enzymes generates autoantigens recognized by anti-citrullinated protein antibodies (ACPAs). | PMID: 23028309 |
| Psoriasis | Altered PADI1 expression in psoriatic skin may contribute to abnormal keratinocyte differentiation and inflammation. | PMID: 21706006 |
| Cancer (various) | Dysregulated citrullination by PADI1 can affect tumor suppressor and oncogenic pathways; overexpression reported in some carcinomas. | PMID: 25636840 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 45.2 | High |
| Esophagus | 38.7 | High |
| Cervix | 22.1 | Medium |
| Vagina | 18.5 | Medium |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 62.4 | High expression in immortalized keratinocytes |
| A431 (epidermoid carcinoma) | 55.8 | High expression |
| HeLa (cervical cancer) | 12.3 | Moderate expression |
| MCF7 (breast cancer) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1250G>A (p.Arg417Gln) | Missense | 0.01% (gnomAD) | Unknown functional impact; may alter calcium binding |
| c.1672C>T (p.Arg558Trp) | Missense | 0.005% (gnomAD) | Potential loss of catalytic activity |
| c.1963_1964insA (p.Thr655Asnfs*2) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the catalytic domain are predicted to cause loss of enzymatic activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for PADI1.
Dominant Negative (DN)
No evidence for dominant-negative effects; PADI1 functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • protein-arginine deiminase activity (GO:0004668) | • hydrolase activity (GO:0016810) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
| • protein citrullination (GO:0018101) | • keratinocyte differentiation (GO:0030216) |
Pathways
• Citrullination pathway (Reactome: R-HSA-6805567)
• Keratinocyte differentiation (KEGG: hsa04520)
Protein Summary
PADI1 is a calcium-dependent enzyme that converts arginine residues to citrulline in target proteins, a process known as citrullination. It is highly expressed in stratified epithelia such as skin and esophagus, where it regulates keratinocyte differentiation and barrier formation. Dysregulation of PADI1 activity is linked to autoimmune diseases like rheumatoid arthritis and certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PADI1 Knockout HEK293 Cell Line | EDJ-KQ9093 | Human | 29943 | Details Get a Quote |
| PADI1 Knockout HeLa Cell Line | EDJ-KQ34342 | Human | 29943 | Details Get a Quote |
| PADI1 Knockout A-549 Cell Line | EDJ-KQ35594 | Human | 29943 | Details Get a Quote |
| PADI1 Knockout HCT 116 Cell Line | EDJ-KQ73064 | Human | 29943 | Details Get a Quote |
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