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Aliases for PADI1 Gene

Aliases for PADI1 Gene

  • Peptidyl Arginine Deiminase 1 2 3 5
  • Peptidyl Arginine Deiminase, Type I 2 3
  • Protein-Arginine Deiminase Type-1 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 58
  • 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. GO annotations related to this gene include calcium ion binding and protein-arginine deiminase activity. An important paralog of this gene is PADI4.

UniProtKB/Swiss-Prot for PADI1 Gene

  • Catalyzes the deimination of arginine residues of proteins.

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

Regulatory Elements for PADI1 Gene

Enhancers for PADI1 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
GH01H017231 1.6 Ensembl ENCODE dbSUPER 18.4 +29.7 29715 6 ARID4B SIN3A FEZF1 ZNF2 CBX5 ZNF143 FOS DEK REST SMARCB1 PADI1 MFAP2 MT1XP1 PADI3
GH01H017126 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -76.3 -76275 3 TBP PKNOX1 INSM2 KLF17 SIN3A RAD21 BRCA1 ZEB1 RFX5 ETS1 PADI1 PADI3 SDHB CROCC PADI2 PADI4 PIR46847 LOC105376808
GH01H017250 1.4 FANTOM5 ENCODE dbSUPER 10.5 +46.0 45992 1 NFIB JUN MAX ZIC2 RFX5 HIC1 CTBP1 POLR2A SCRT2 SMC3 PADI4 PADI2 PADI1 PADI3 GC01M017107 GC01M017106
GH01H017181 0.7 Ensembl ENCODE 12.2 -23.1 -23085 1 PKNOX1 ZBTB40 GABPA PADI1 PADI2 PADI4 LOC400743 LOC105376808
GH01H017166 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5.7 -35.9 -35929 4 JUND ADNP CHD1 ZMYM3 FOS ATF2 PRDM4 PADI1 LOC400743 LOC105376808
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PADI1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PADI1 Gene

Chromosome:
1
Start:
17,205,123 bp from pter
End:
17,246,006 bp from pter
Size:
40,884 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:
    No Data Available

    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

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 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

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 --
GO:0005509 calcium ion binding IEA --
GO:0016787 hydrolase activity 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

Clone Products

  • Applied Biological Materials Clones for PADI1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2
endoplasmic reticulum 2
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 --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
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

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 IEA --
GO:0036414 histone citrullination IBA --
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 Nutra Full agonist, Agonist, Target 0
Ammonia Approved Pharma 0
Water Approved Pharma 0
ADI-PEG 20 Pharma inhibitor 0
calcium Nutra 0
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PADI1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
PADI1

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, PaxDb, and MOPED for PADI1 Gene



Protein tissue co-expression partners for PADI1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PADI1 Gene:

PADI1

SOURCE GeneReport for Unigene cluster for PADI1 Gene:

Hs.412941

mRNA Expression by UniProt/SwissProt for PADI1 Gene:

Q9ULC6-PADI1_HUMAN
Tissue specificity: 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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia PADI1 33 34
  • 94.87 (n)
dog
(Canis familiaris)
Mammalia PADI1 33 34
  • 85.22 (n)
cow
(Bos Taurus)
Mammalia PADI1 33 34
  • 82.15 (n)
mouse
(Mus musculus)
Mammalia Padi1 33 16 34
  • 78.65 (n)
rat
(Rattus norvegicus)
Mammalia Padi1 33
  • 78 (n)
oppossum
(Monodelphis domestica)
Mammalia PADI1 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 53 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PADI1 33 34
  • 65.3 (n)
PADI3 34
  • 59 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii padi2 34
  • 45 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PADI1 (if available)
TreeFam:
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
rs1000027270 -- 17,236,922(+) GAGCA(A/G)GCTGG intron-variant
rs1000060758 -- 17,217,497(+) AGGAG(A/G)TCTGA intron-variant
rs1000454142 -- 17,221,693(+) GACAG(A/C)CTTGC intron-variant
rs1000488515 -- 17,227,821(+) CTCGA(C/T)AAGTG intron-variant
rs1000542627 -- 17,232,495(+) CAGCA(G/T)ATTTT 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)

Relevant External Links for PADI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PADI1

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)
PADI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 60
  2. 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 22 60
  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 22 60
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  5. 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 (Journal of human genetics 2004) 3 25 60

Products for PADI1 Gene

Sources for PADI1 Gene

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