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Aliases for PADI1 Gene

Aliases for PADI1 Gene

  • 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 63
  • PAD1 3 4
  • PDI1 3 4
  • Peptidylarginine Deiminase Type I 2
  • Protein-Arginine Deiminase Type-1 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, Type I) is a Protein Coding gene. Among its related pathways are Chromatin organization and protein citrullination. 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

  • Catalyzes the deimination of arginine residues of proteins.

Gene Wiki entry for PADI1 Gene

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

Genomics for PADI1 Gene

Regulatory Elements for PADI1 Gene

Genomic Location for PADI1 Gene

17,205,123 bp from pter
17,246,006 bp from pter
40,884 bases
Plus strand

Genomic View for PADI1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    No Data Available

neXtProt entry for PADI1 Gene

Proteomics data for PADI1 Gene at MOPED

Post-translational modifications for PADI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PADI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PADI1 Gene

Gene Families for PADI1 Gene

Protein Domains for PADI1 Gene

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 CatalyticActivity:
Protein L-arginine + H(2)O = protein L-citrulline + NH(3)
UniProtKB/Swiss-Prot Function:
Catalyzes the deimination of arginine residues of proteins.

Enzyme Numbers (IUBMB) 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 IEA --
GO:0005509 calcium 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

No data available for 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

Jensen Localization Image for PADI1 Gene COMPARTMENTS Subcellular localization image for PADI1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for PADI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PADI1: view

Pathways & Interactions 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

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q9ULC6-PADI1_HUMAN ENSP00000364620 for PADI1 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for PADI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018101 protein citrullination IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citrulline Approved Nutra Full agonist, Agonist, Target 0
ADI-PEG 20 Pharma inhibitor 0
Calcium Nutra 0

(2) Additional Compounds for PADI1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
  • Dihydrogen oxide
  • Steam
genes like me logo Genes that share compounds with PADI1: view

Transcripts for PADI1 Gene

Unigene Clusters for PADI1 Gene

Peptidyl arginine deiminase, type I:
Representative Sequences:

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 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, PaxDb, and MOPED for PADI1 Gene

SOURCE GeneReport for Unigene cluster for PADI1 Gene Hs.412941

mRNA Expression by UniProt/SwissProt for PADI1 Gene

Tissue specificity: Epidermis, prostate, testis, placenta, spleen and thymus.
genes like me logo Genes that share expression patterns with PADI1: view

Protein tissue co-expression partners for PADI1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
(Bos Taurus)
Mammalia PADI1 35
  • 82.15 (n)
  • 76.77 (a)
PADI1 36
  • 77 (a)
(Canis familiaris)
Mammalia PADI1 35
  • 85.22 (n)
  • 81.75 (a)
PADI1 36
  • 82 (a)
(Mus musculus)
Mammalia Padi1 35
  • 78.65 (n)
  • 77.04 (a)
Padi1 16
Padi1 36
  • 77 (a)
(Pan troglodytes)
Mammalia PADI1 35
  • 94.87 (n)
  • 93.14 (a)
PADI1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Padi1 35
  • 78 (n)
  • 76.28 (a)
(Monodelphis domestica)
Mammalia PADI1 36
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
(Gallus gallus)
Aves PADI1 35
  • 65.3 (n)
  • 59.42 (a)
PADI1 36
  • 59 (a)
PADI3 36
  • 59 (a)
(Danio rerio)
Actinopterygii padi2 36
  • 45 (a)
Species with no ortholog for PADI1:
  • 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)

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 Sequence Context AA Info Type MAF
rs2008313 -- 17,226,749(-) tttaa(C/T)agaga intron-variant
rs2977223 -- 17,243,956(+) TGCCA(A/G)AAGCA intron-variant
rs2977285 -- 17,217,608(+) cagta(A/G)tactg intron-variant
rs2977286 -- 17,218,877(+) AGGCA(C/T)GGTCG intron-variant
rs2977287 -- 17,219,329(+) gagga(A/C)tcagc intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422314 CNV Duplication 17116639
nsv834291 CNV Gain 17160897
esv2744530 CNV Deletion 23290073
esv1489199 CNV Insertion 17803354
esv2744541 CNV Deletion 23290073
nsv871364 CNV Loss 21882294
nsv470700 CNV Loss 18288195
nsv511680 CNV Loss 21212237
esv1009642 CNV Deletion 20482838
esv2744552 CNV Deletion 23290073
esv1398963 CNV Deletion 17803354
nsv508958 CNV Insertion 20534489

Variation tolerance for PADI1 Gene

Residual Variation Intolerance Score: 83.86% 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)

Relevant External Links for PADI1 Gene

HapMap Linkage Disequilibrium report

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

Disorders for PADI1 Gene

Relevant External Links for PADI1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PADI1: view

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

Publications for PADI1 Gene

  1. Identification of 45 novel SNPs in the 83-kb region containing peptidylarginine deiminase types 1 and 3 loci on chromosomal band 1p36.13. (PMID: 15150696) Iida A. … Nakamura Y. (J. Hum. Genet. 2004) 25 26 67
  2. cDNA cloning, gene organization and expression analysis of human peptidylarginine deiminase type I. (PMID: 12416996) Guerrin M. … Serre G. (Biochem. J. 2003) 2 23 67
  3. Transcriptional regulation of peptidylarginine deiminase expression in human keratinocytes. (PMID: 19004619) Ying S. … Takahara H. (J. Dermatol. Sci. 2009) 23 67
  4. 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. (J. Invest. Dermatol. 2008) 23 67
  5. Gene expression profiling identifies genes predictive of oral squamous cell carcinoma. (PMID: 18669583) Chen C. … Zhao L.P. (Cancer Epidemiol. Biomarkers Prev. 2008) 23 67

Products for PADI1 Gene

Sources for PADI1 Gene

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