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Aliases for PADI1 Gene

Aliases for PADI1 Gene

  • Peptidyl Arginine Deiminase 1 2 3 5
  • Protein-Arginine Deiminase Type-1 2 3 4
  • Peptidyl Arginine Deiminase, Type I 2 3
  • Protein-Arginine Deiminase Type I 3 4
  • Peptidylarginine Deiminase I 3 4
  • HPAD-Colony 10 2 3
  • EC 4 56
  • PAD1 3 4
  • PDI1 3 4
  • Peptidylarginine Deiminase Type I 2
  • HPAD10 3
  • PDI 3

External Ids for PADI1 Gene

Previous GeneCards Identifiers for PADI1 Gene

  • GC01P017269
  • GC01P016572
  • GC01P016912
  • GC01P017276
  • GC01P017404
  • GC01P017531
  • GC01P015775

Summaries for PADI1 Gene

Entrez Gene Summary for PADI1 Gene

  • This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for PADI1 Gene

PADI1 (Peptidyl Arginine Deiminase 1) is a Protein Coding gene. Among its related pathways are Chromatin organization and protein citrullination. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein-arginine deiminase activity. An important paralog of this gene is PADI3.

UniProtKB/Swiss-Prot for PADI1 Gene

Gene Wiki entry for PADI1 Gene

Additional gene information for PADI1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PADI1 Gene

Genomics for PADI1 Gene

GeneHancer (GH) Regulatory Elements for PADI1 Gene

Promoters and enhancers for PADI1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J017205 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 600.7 +2.1 2055 5.4 SP1 ZNF121 ZSCAN21 ZBTB7A TRIM24 SP7 KLF14 CREM ZBED1 IKZF1 PADI1 CROCCP3 PADI3 PADI2 CROCC NBPF1 SDHB LINC01772 PADI4 LINC01783
GH01J017231 Enhancer 1.4 Ensembl ENCODE dbSUPER 18.5 +29.3 29341 7.3 CC2D1A CTCF ZNF121 NFIB ZSCAN21 NCOA3 MAFK MYC SP7 SP1 PADI1 MFAP2 MT1XP1 PADI3 GC01M017107 GC01M017106
GH01J017250 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 16.2 +46.2 46164 2.2 NFIB MYC FOSL2 ZIC2 CTBP1 SMARCC1 CEBPB SCRT2 CHD2 JUN PADI1 PADI4 PADI2 PADI3 GC01M017107 GC01M017106
GH01J017126 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 11.7 -76.3 -76274 3.7 ZNF121 ZNF687 MAFK SP7 SP1 PRDM1 IKZF1 POLR2A ZNF600 ZEB2 PADI1 PADI3 SDHB CROCC PADI2 PADI4 PIR46847 LOC105376808 GC01M017106 GC01M017107
GH01J017074 Enhancer 0.9 Ensembl dbSUPER 10.7 -129.6 -129622 0.6 CC2D1A CTCF ATF1 POLR2A GABPA ELF1 USF1 RAD21 SMC3 GABPB1 PADI2 SDHB PADI1 PADI4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PADI1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PADI1 gene promoter:
  • AREB6
  • ARP-1
  • COUP
  • COUP-TF1
  • GATA-2
  • HNF-4alpha1
  • HNF-4alpha2
  • Sp1

Genomic Locations for PADI1 Gene

Genomic Locations for PADI1 Gene
40,885 bases
Plus strand
40,881 bases
Plus strand

Genomic View for PADI1 Gene

Genes around PADI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PADI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PADI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PADI1 Gene

Proteins for PADI1 Gene

  • Protein details for PADI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein-arginine deiminase type-1
    Protein Accession:
    Secondary Accessions:
    • A1L4K6
    • Q70SX6

    Protein attributes for PADI1 Gene

    663 amino acids
    Molecular mass:
    74666 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for PADI1 Gene

neXtProt entry for PADI1 Gene

Selected DME Specific Peptides for PADI1 Gene


Post-translational modifications for PADI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PADI1 Gene

Domains & Families for PADI1 Gene

Gene Families for PADI1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PADI1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60413, highly similar to Protein-arginine deiminase type-1 (EC3.5.3.15) (B4DDP3_HUMAN)
  • cDNA FLJ56220, highly similar to Protein-arginine deiminase type-1 (EC (B4DPX6_HUMAN)
  • cDNA FLJ59736, highly similar to Protein-arginine deiminase type-1 (EC (B4DQP2_HUMAN)
  • Protein-arginine deiminase type I (PADI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the protein arginine deiminase family.
  • Belongs to the protein arginine deiminase family.
genes like me logo Genes that share domains with PADI1: view

Function for PADI1 Gene

Molecular function for PADI1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the deimination of arginine residues of proteins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L-arginyl-[protein] = L-citrullyl-[protein] + NH4(+); Xref=Rhea:RHEA:18089, Rhea:RHEA-COMP:10532, Rhea:RHEA-COMP:10588, ChEBI:CHEBI:15377, ChEBI:CHEBI:28938, ChEBI:CHEBI:29965, ChEBI:CHEBI:83397; EC=; Evidence={ECO:0000269 PubMed:12416996, ECO:0000269 PubMed:27393304};.

Enzyme Numbers (IUBMB) for PADI1 Gene

Phenotypes From GWAS Catalog for PADI1 Gene

Gene Ontology (GO) - Molecular Function for PADI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004668 protein-arginine deiminase activity IDA 27393304
GO:0005509 calcium ion binding IDA 27393304
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PADI1: view
genes like me logo Genes that share phenotypes with PADI1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PADI1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PADI1

Clone Products

  • Applied Biological Materials (abm): Clones for PADI1 - Now 50% OFF >
  • * PADI1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PADI1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PADI1 Gene

Localization for PADI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PADI1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PADI1 gene
Compartment Confidence
nucleus 4
cytosol 4
mitochondrion 2
extracellular 1
endoplasmic reticulum 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PADI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IDA 12416996
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PADI1: view

Pathways & Interactions for PADI1 Gene

PathCards logo

SuperPathways for PADI1 Gene

genes like me logo Genes that share pathways with PADI1: view

Pathways by source for PADI1 Gene

1 BioSystems pathway for PADI1 Gene
2 Reactome pathways for PADI1 Gene

Interacting Proteins for PADI1 Gene

Gene Ontology (GO) - Biological Process for PADI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization TAS --
GO:0018101 protein citrullination IDA 27393304
GO:0036414 histone citrullination IBA 21873635
genes like me logo Genes that share ontologies with PADI1: view

No data available for SIGNOR curated interactions for PADI1 Gene

Drugs & Compounds for PADI1 Gene

(5) Drugs for PADI1 Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citrulline Approved, Investigational Nutra Full agonist, Agonist, Target 0
Ammonia Approved Pharma 0
Water Approved Pharma 0
Calcium Approved Nutra 7611
ADI-PEG 20 Pharma inhibitor 0
genes like me logo Genes that share compounds with PADI1: view

Transcripts for PADI1 Gene

mRNA/cDNA for PADI1 Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for PADI1 Gene

Peptidyl arginine deiminase, type I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PADI1

Clone Products

  • Applied Biological Materials (abm): Clones for PADI1 - Now 50% OFF >
  • * PADI1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PADI1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for PADI1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18a · 18b
SP1: - - - - - -
SP2: - -
SP4: -
SP6: -

Relevant External Links for PADI1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PADI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PADI1 Gene

mRNA differential expression in normal tissues according to GTEx for PADI1 Gene

This gene is overexpressed in Esophagus - Mucosa (x37.6) and Vagina (x5.2).

Protein differential expression in normal tissues from HIPED for PADI1 Gene

This gene is overexpressed in Blymphocyte (33.0) and Cervix (27.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PADI1 Gene

Protein tissue co-expression partners for PADI1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PADI1 Gene:


SOURCE GeneReport for Unigene cluster for PADI1 Gene:


mRNA Expression by UniProt/SwissProt for PADI1 Gene:

Tissue specificity: Detected in epidermal keratinocytes (at protein level). Epidermis, prostate, testis, placenta, spleen and thymus.

Evidence on tissue expression from TISSUES for PADI1 Gene

  • Skin(4.4)
genes like me logo Genes that share expression patterns with PADI1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for PADI1 Gene

Orthologs for PADI1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PADI1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PADI1 35 34
  • 94.87 (n)
(Canis familiaris)
Mammalia PADI1 35 34
  • 85.22 (n)
(Bos Taurus)
Mammalia PADI1 35 34
  • 82.15 (n)
(Mus musculus)
Mammalia Padi1 17 35 34
  • 78.65 (n)
(Rattus norvegicus)
Mammalia Padi1 34
  • 78 (n)
(Monodelphis domestica)
Mammalia PADI1 35
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 53 (a)
(Gallus gallus)
Aves PADI1 35 34
  • 65.3 (n)
PADI3 35
  • 59 (a)
(Danio rerio)
Actinopterygii padi2 35
  • 45 (a)
Species where no ortholog for PADI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PADI1 Gene

Gene Tree for PADI1 (if available)
Gene Tree for PADI1 (if available)
Evolutionary constrained regions (ECRs) for PADI1: view image

Paralogs for PADI1 Gene

Paralogs for PADI1 Gene

(4) SIMAP similar genes for PADI1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PADI1: view

Variants for PADI1 Gene

Sequence variations from dbSNP and Humsavar for PADI1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000027270 -- 17,236,922(+) G/A intron_variant
rs1000060758 -- 17,217,497(+) A/G/T intron_variant
rs1000454142 -- 17,221,693(+) C/A intron_variant
rs1000488515 -- 17,227,821(+) C/T intron_variant
rs1000542627 -- 17,232,495(+) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PADI1 Gene

Variant ID Type Subtype PubMed ID
esv1009642 CNV deletion 20482838
esv1398963 CNV deletion 17803354
esv1489199 CNV insertion 17803354
esv2422314 CNV duplication 17116639
esv2762134 CNV loss 21179565
esv3550343 CNV deletion 23714750
nsv1004390 CNV gain 25217958
nsv1114935 CNV deletion 24896259
nsv470700 CNV loss 18288195
nsv508958 CNV insertion 20534489
nsv511680 CNV loss 21212237
nsv545692 CNV loss 21841781
nsv834291 CNV gain 17160897
nsv954861 CNV deletion 24416366

Variation tolerance for PADI1 Gene

Residual Variation Intolerance Score: 83.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PADI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PADI1 Gene

Disorders for PADI1 Gene

Additional Disease Information for PADI1

No disorders were found for PADI1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PADI1 Gene

Publications for PADI1 Gene

  1. cDNA cloning, gene organization and expression analysis of human peptidylarginine deiminase type I. (PMID: 12416996) Guerrin M … Serre G (The Biochemical journal 2003) 2 3 4 23 58
  2. Monomeric Form of Peptidylarginine Deiminase Type I Revealed by X-ray Crystallography and Small-Angle X-ray Scattering. (PMID: 27393304) Saijo S … Unno M (Journal of molecular biology 2016) 3 4 58
  3. Crucial roles of MZF1 and Sp1 in the transcriptional regulation of the peptidylarginine deiminase type I gene (PADI1) in human keratinocytes. (PMID: 17851584) Dong S … Takahara H (The Journal of investigative dermatology 2008) 3 23 58
  4. Gene expression profiling identifies genes predictive of oral squamous cell carcinoma. (PMID: 18669583) Chen C … Zhao LP (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 23 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for PADI1 Gene

Sources for PADI1 Gene

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