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Aliases for PADI3 Gene

Aliases for PADI3 Gene

  • Peptidyl Arginine Deiminase 3 2 3 5
  • Peptidyl Arginine Deiminase, Type III 2 3
  • Protein-Arginine Deiminase Type III 3 4
  • Peptidylarginine Deiminase III 3 4
  • EC 4 61
  • PAD3 3 4
  • PDI3 3 4
  • Protein-Arginine Deiminase Type-3 3
  • UHS1 3

External Ids for PADI3 Gene

Previous GeneCards Identifiers for PADI3 Gene

  • GC01P017313
  • GC01P016616
  • GC01P016956
  • GC01P017320
  • GC01P017448
  • GC01P017575
  • GC01P015819

Summaries for PADI3 Gene

Entrez Gene Summary for PADI3 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 III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for PADI3 Gene

PADI3 (Peptidyl Arginine Deiminase 3) is a Protein Coding gene. Diseases associated with PADI3 include Uncombable Hair Syndrome and Uncombable Hair Syndrome 1. Among its related pathways are protein citrullination and Chromatin organization. GO annotations related to this gene include calcium ion binding and protein-arginine deiminase activity. An important paralog of this gene is PADI1.

UniProtKB/Swiss-Prot for PADI3 Gene

  • Catalyzes the deimination of arginine residues of proteins.

Gene Wiki entry for PADI3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PADI3 Gene

Genomics for PADI3 Gene

Regulatory Elements for PADI3 Gene

Enhancers for PADI3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G017206 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -40.8 -40750 3.1 PKNOX1 ATF1 WRNIP1 ZNF2 ZNF121 GLIS2 ELK1 ZNF143 KLF7 FOS PADI3 PADI2 SDHB PADI4 PADI1
GH01G017126 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -120.2 -120234 3.7 TBP PKNOX1 INSM2 KLF17 SIN3A RAD21 BRCA1 ZEB1 RFX5 ETS1 PADI1 PADI3 SDHB CROCC PADI2 PADI4 PIR46847 LOC105376808
GH01G017059 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -188.5 -188509 2.5 CTCF ESRRA RB1 KLF17 ZNF2 ZIC2 RAD21 ZFHX2 POLR2A ZBTB48 PADI2 MFAP2 PADI3 PADI4 SDHB
GH01G017210 1.5 Ensembl ENCODE dbSUPER 11.7 -36.9 -36902 3.3 FOXA2 SIN3A FEZF1 ZNF48 ZNF2 ZNF121 GLIS2 SP3 ZSCAN16 GLIS1 PADI3 PADI2 SDHB PADI4 PADI1
GH01G017125 1.4 Ensembl ENCODE dbSUPER 11.3 -123.0 -122982 1.0 RB1 ZSCAN4 ARID4B ZNF76 KLF17 NFXL1 ZNF48 RAD21 ZNF143 SMARCA5 SDHB PADI3 CROCC PIR46847 LOC105376808
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PADI3 on UCSC Golden Path with GeneCards custom track

Genomic Location for PADI3 Gene

17,249,082 bp from pter
17,284,233 bp from pter
35,152 bases
Plus strand

Genomic View for PADI3 Gene

Genes around PADI3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PADI3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PADI3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PADI3 Gene

Proteins for PADI3 Gene

  • Protein details for PADI3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein-arginine deiminase type-3
    Protein Accession:
    Secondary Accessions:
    • Q58EY7
    • Q70SX5

    Protein attributes for PADI3 Gene

    664 amino acids
    Molecular mass:
    74743 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

neXtProt entry for PADI3 Gene

Selected DME Specific Peptides for PADI3 Gene


Post-translational modifications for PADI3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PADI3 Gene

Domains & Families for PADI3 Gene

Gene Families for PADI3 Gene

Protein Domains for PADI3 Gene

Suggested Antigen Peptide Sequences for PADI3 Gene

GenScript: Design optimal peptide antigens:

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 PADI3: view

Function for PADI3 Gene

Molecular function for PADI3 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 PADI3 Gene

Gene Ontology (GO) - Molecular Function for PADI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004668 protein-arginine deiminase activity IMP 27866708
GO:0005509 calcium ion binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with PADI3: view
genes like me logo Genes that share phenotypes with PADI3: view

Human Phenotype Ontology for PADI3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PADI3 Gene

MGI Knock Outs for PADI3:

Animal Model Products

  • Taconic Biosciences Mouse Models for PADI3

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PADI3 Gene

Localization for PADI3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PADI3 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 PADI3 gene
Compartment Confidence
cytosol 5
nucleus 4
extracellular 2
mitochondrion 2
plasma membrane 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PADI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IDA,IBA 27866708
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PADI3: view

Pathways & Interactions for PADI3 Gene

genes like me logo Genes that share pathways with PADI3: view

Pathways by source for PADI3 Gene

1 BioSystems pathway for PADI3 Gene
2 Reactome pathways for PADI3 Gene

Gene Ontology (GO) - Biological Process for PADI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization TAS --
GO:0018101 protein citrullination IMP,IEA 27866708
GO:0036414 histone citrullination IBA --
genes like me logo Genes that share ontologies with PADI3: view

No data available for SIGNOR curated interactions for PADI3 Gene

Drugs & Compounds for PADI3 Gene

(5) Drugs for PADI3 Gene - From: DrugBank, DGIdb, and HMDB

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

(1) Additional Compounds for PADI3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
genes like me logo Genes that share compounds with PADI3: view

Transcripts for PADI3 Gene

mRNA/cDNA for PADI3 Gene

(4) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PADI3 Gene

Peptidyl arginine deiminase, type III:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PADI3 Gene

No ASD Table

Relevant External Links for PADI3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PADI3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PADI3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PADI3 Gene

This gene is overexpressed in Bladder (x26.3), Esophagus - Mucosa (x13.9), and Skin - Not Sun Exposed (Suprapubic) (x4.7).

Protein differential expression in normal tissues from HIPED for PADI3 Gene

This gene is overexpressed in Lung (41.6), Hair follicle (9.8), Neutrophil (6.9), and Urinary Bladder (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PADI3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PADI3 Gene:


SOURCE GeneReport for Unigene cluster for PADI3 Gene:


mRNA Expression by UniProt/SwissProt for PADI3 Gene:

Tissue specificity: Hair follicles, and epidermis at very low levels.

Evidence on tissue expression from TISSUES for PADI3 Gene

  • Skin(4.4)
  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with PADI3: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PADI3 Gene

Orthologs for PADI3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PADI3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PADI3 34 35
  • 99.3 (n)
(Canis familiaris)
Mammalia PADI3 34 35
  • 89.31 (n)
(Monodelphis domestica)
Mammalia PADI3 35
  • 87 (a)
(Bos Taurus)
Mammalia PADI3 34 35
  • 84.99 (n)
(Rattus norvegicus)
Mammalia Padi3 34
  • 84.94 (n)
(Mus musculus)
Mammalia Padi3 34 16 35
  • 84.69 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
-- 35
  • 77 (a)
(Gallus gallus)
Aves PADI3 34
  • 64.54 (n)
(Anolis carolinensis)
Reptilia PADI3 35
  • 47 (a)
(Danio rerio)
Actinopterygii padi2 35
  • 46 (a)
Species where no ortholog for PADI3 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)
  • 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 PADI3 Gene

Gene Tree for PADI3 (if available)
Gene Tree for PADI3 (if available)

Paralogs for PADI3 Gene

Paralogs for PADI3 Gene

(4) SIMAP similar genes for PADI3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PADI3: view

Variants for PADI3 Gene

Sequence variations from dbSNP and Humsavar for PADI3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs781009577 A breast cancer sample 17,276,846(+) GCCAC(A/G)GGAGG upstream-variant-2KB, reference, missense, utr-variant-3-prime
VAR_078023 Uncombable hair syndrome 1 (UHS1) [MIM:191480]
VAR_078024 Uncombable hair syndrome 1 (UHS1) [MIM:191480]
VAR_078025 Uncombable hair syndrome 1 (UHS1) [MIM:191480]
rs142129409 Pathogenic 17,262,194(+) CTACC(A/T)CACCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PADI3 Gene

Variant ID Type Subtype PubMed ID
dgv128n100 CNV gain 25217958
dgv129n100 CNV gain 25217958
dgv19e212 CNV gain 25503493
esv2762268 CNV gain 21179565
esv3585363 CNV gain 21293372
nsv1003937 CNV loss 25217958
nsv1011242 CNV gain 25217958
nsv1011954 CNV gain 25217958
nsv4076 CNV insertion 18451855
nsv470700 CNV loss 18288195
nsv481528 CNV novel sequence insertion 20440878
nsv508958 CNV insertion 20534489
nsv516116 CNV gain 19592680
nsv521814 CNV loss 19592680
nsv545692 CNV loss 21841781
nsv545693 CNV gain 21841781
nsv834291 CNV gain 17160897

Variation tolerance for PADI3 Gene

Residual Variation Intolerance Score: 99.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.14; 84.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PADI3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PADI3 Gene

Disorders for PADI3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PADI3 Gene - From: ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
uncombable hair syndrome
  • cheveux incoiffables
uncombable hair syndrome 1
  • chevelure en vadrouille
- elite association - COSMIC cancer census association via MalaCards
Search PADI3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PADI3

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PADI3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PADI3 Gene

Publications for PADI3 Gene

  1. Human peptidylarginine deiminase type III: molecular cloning and nucleotide sequence of the cDNA, properties of the recombinant enzyme, and immunohistochemical localization in human skin. (PMID: 11069618) Kanno T. … Takahara H. (J. Invest. Dermatol. 2000) 2 3 4 22 25 64
  2. NF-Y and Sp1/Sp3 are involved in the transcriptional regulation of the peptidylarginine deiminase type III gene (PADI3) in human keratinocytes. (PMID: 16671893) Dong S. … Takahara H. (Biochem. J. 2006) 3 22 25 64
  3. Long-range enhancer associated with chromatin looping allows AP-1 regulation of the peptidylarginine deiminase 3 gene in differentiated keratinocyte. (PMID: 18923650) Chavanas S. … Simon M. (PLoS ONE 2008) 3 22 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Comparative analysis of the mouse and human peptidylarginine deiminase gene clusters reveals highly conserved non-coding segments and a new human gene, PADI6. (PMID: 15087120) Chavanas S. … Simon M. (Gene 2004) 3 4 64

Products for PADI3 Gene

Sources for PADI3 Gene

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