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 epide... See more...

Aliases for PADI1 Gene

Aliases for PADI1 Gene

  • Peptidyl Arginine Deiminase 1 2 3 5
  • Protein-Arginine Deiminase Type-1 2 3 4
  • PAD1 2 3 4
  • PDI1 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 3.5.3.15 4 51
  • HPAD10 2 3
  • PDI 2 3
  • Peptidylarginine Deiminase Type I 2
  • PADI1 5

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. Diseases associated with PADI1 include Myopathy, Distal, 1. Among its related pathways are protein citrullination and Chromatin organization. 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 Summary 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 , Rfam classification and piRNA Summary for PADI1 Gene

Genomics for PADI1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PADI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 0.5 EPDnew dbSUPER 600.7 0.0 -16 0.1 PADI1 ENSG00000282843 PADI2
GH01J017228 Enhancer 1.3 Ensembl ENCODE dbSUPER 18.5 +28.3 28339 9.3 HNRNPL CTCF PRDM10 ZNF629 KDM1A ZNF692 JUND ZIC2 ZSCAN4 PATZ1 PADI1 MST1L MT1XP1 piR-43106-002 PADI3
GH01J017250 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 16.2 +46.1 46076 2.4 ZIC2 SCRT2 SP1 RFX1 SMARCC1 JUND ESR1 CTBP1 CEBPB FOS PADI1 PADI4 PADI2 PADI3 RF00951-005
GH01J017126 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 11.7 -76.3 -76276 3.7 ZNF629 ZNF692 JUND PRDM1 REST SP1 ZNF600 PKNOX1 BRCA1 ESR1 PADI1 PADI3 SDHB CROCC PADI2 PADI4 piR-52848 LOC105376808
GH01J017080 Enhancer 1.1 FANTOM5 Ensembl dbSUPER 10.9 -122.3 -122324 8.4 PRDM1 ZIC2 IKZF2 YY1 TOE1 RBAK RELB USF2 ESR1 RAD51 MN308685 PADI2 CROCC MFAP2 SDHB PADI4 PADI1 NBPF1 lnc-CROCC-7
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PADI1

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

Genomic Locations for PADI1 Gene

Genomic Locations for PADI1 Gene
chr1:17,205,125-17,246,007
(GRCh38/hg38)
Size:
40,883 bases
Orientation:
Plus strand
chr1:17,531,621-17,572,501
(GRCh37/hg19)
Size:
40,881 bases
Orientation:
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:
    Q9ULC6-PADI1_HUMAN
    Recommended name:
    Protein-arginine deiminase type-1
    Protein Accession:
    Q9ULC6
    Secondary Accessions:
    • A1L4K6
    • Q70SX6

    Protein attributes for PADI1 Gene

    Size:
    663 amino acids
    Molecular mass:
    74666 Da
    Cofactor:
    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

Q9ULC6:
  • DLQDMSPM
  • VGHVDEFL
  • AQQVQAPV
  • EYPLGRILIG
  • VSPPVTV
  • HCGTNVRRKPF
  • FPYKRILG
  • PTHAVCV
  • LASPSAC
  • APWIMTP
  • PVVFDSPRN

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

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

Protein Domains for PADI1 Gene

InterPro:
Blocks:
  • Protein-arginine deiminase, PAD
ProtoNet:

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 3.5.3.15) (B4DPX6_HUMAN)
  • cDNA FLJ59736, highly similar to Protein-arginine deiminase type-1 (EC 3.5.3.15) (B4DQP2_HUMAN)
  • Protein-arginine deiminase type I (PADI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9ULC6

UniProtKB/Swiss-Prot:

PADI1_HUMAN :
  • Belongs to the protein arginine deiminase family.
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=3.5.3.15; 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 IBA,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

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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

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

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 Target 0
Ammonia Approved Pharma 0
Water Approved Pharma 0
ADI-PEG 20 Pharma inhibitor 0
Calcium Nutra 6556
genes like me logo Genes that share compounds with PADI1: view

Transcripts for PADI1 Gene

mRNA/cDNA for PADI1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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: - -
SP3:
SP4: -
SP5:
SP6: -

Relevant External Links for PADI1 Gene

GeneLoc Exon Structure for
PADI1

Expression for PADI1 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PADI1

SOURCE GeneReport for Unigene cluster for PADI1 Gene:

Hs.412941

mRNA Expression by UniProt/SwissProt for PADI1 Gene:

Q9ULC6-PADI1_HUMAN
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(4.5)
genes like me logo Genes that share expression patterns with PADI1: view

No data available for 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
Chimpanzee
(Pan troglodytes)
Mammalia PADI1 30 31
  • 94.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PADI1 30 31
  • 85.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PADI1 30 31
  • 82.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Padi1 30 17 31
  • 78.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Padi1 30
  • 78 (n)
Oppossum
(Monodelphis domestica)
Mammalia PADI1 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 53 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves PADI1 30 31
  • 65.3 (n)
OneToMany
PADI3 31
  • 59 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii padi2 31
  • 45 (a)
OneToMany
Species where no ortholog for PADI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for PADI1 (if available)
TreeFam:
Gene Tree for PADI1 (if available)
Aminode:
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:

  • PADI1_HUMAN
  • B4DDP3_HUMAN
  • B4DPX6_HUMAN
  • B4DQP2_HUMAN
genes like me logo Genes that share paralogs with PADI1: view

Variants for PADI1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PADI1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
742742 Likely Benign: not provided 17,232,811(+) T/C INTRON_VARIANT
773391 Likely Benign: not provided 17,226,078(+) A/G MISSENSE_VARIANT
791779 Benign: not provided 17,244,196(+) G/A MISSENSE_VARIANT
rs16824215 - p.Val649Met

Additional dbSNP identifiers (rs#s) for PADI1 Gene

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
PADI1

SNP Genotyping and Copy Number Assay Products

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

Disorders for PADI1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PADI1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
myopathy, distal, 1
  • mpd1
- elite association - COSMIC cancer census association via MalaCards
Search PADI1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PADI1

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

No data available for 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
  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
  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
  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
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for PADI1 Gene

Sources for PADI1 Gene