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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 3.5.3.15 4 56
  • 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 1. 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 PADI1.

UniProtKB/Swiss-Prot for PADI3 Gene

  • Catalyzes the deimination of arginine residues of proteins.

Gene Wiki entry for PADI3 Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for PADI3 Gene

Promoters and enhancers for PADI3 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
GH01I017249 Promoter 0.6 EPDnew 550.8 0.0 -3 0.1 SP2 PADI3 GC01M017106 GC01M017107 PADI1
GH01I016977 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 9.7 -269.0 -268955 4.7 MXI1 ZNF449 ETV1 ZIC2 ZNF48 HIC1 ZNF335 ZNF121 POLR2A ZNF143 MFAP2 ENSG00000226526 LOC105376805 PADI3 ATP13A2 CROCCP2 LOC105376806
GH01I017206 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -40.7 -40749 3.1 PKNOX1 ATF1 SMAD1 ZNF2 IRF4 ZNF121 GLIS2 ELK1 ZNF143 KLF7 CROCCP3 PADI3 PADI2 CROCC NBPF1 SDHB LINC01772 PADI4 PADI1 GC01M017106
GH01I017126 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -120.2 -120233 3.7 PKNOX1 INSM2 KLF17 SIN3A RAD21 BRCA1 RFX5 ETS1 ZEB1 ZNF121 PADI1 PADI3 SDHB CROCC PADI2 PADI4 PIR46847 LOC105376808 GC01M017106 GC01M017107
GH01I017059 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -188.5 -188509 2.5 RB1 KLF17 ZNF2 RAD21 ZNF143 RUNX3 EGR2 ZNF654 RXRA USF2 PADI2 MFAP2 PADI3 PADI4 SDHB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PADI3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PADI3 gene promoter:

Genomic Locations for PADI3 Gene

Genomic Locations for PADI3 Gene
chr1:17,249,082-17,284,233
(GRCh38/hg38)
Size:
35,152 bases
Orientation:
Plus strand
chr1:17,575,593-17,610,728
(GRCh37/hg19)

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:
    Q9ULW8-PADI3_HUMAN
    Recommended name:
    Protein-arginine deiminase type-3
    Protein Accession:
    Q9ULW8
    Secondary Accessions:
    • Q58EY7
    • Q70SX5

    Protein attributes for PADI3 Gene

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

neXtProt entry for PADI3 Gene

Selected DME Specific Peptides for PADI3 Gene

Q9ULW8:
  • VGHVDEFL
  • VNMLVLGK
  • EYPLGRILIG
  • GKEYPLGR
  • VVMNSPSN
  • LEPLGLHCTFI
  • FPYKRILG
  • TLLDDSNED
  • APWIMTP
  • CPQAENRNDRWIQDEMELGY
  • LGIPKPFGP
  • PVVFDSPRN

Post-translational modifications for PADI3 Gene

No Post-translational modifications

Other Protein References for PADI3 Gene

Domains & Families for PADI3 Gene

Gene Families for PADI3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PADI3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9ULW8

UniProtKB/Swiss-Prot:

PADI3_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 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

Phenotypes From GWAS Catalog 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

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

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 PADI3 gene
Compartment Confidence
cytosol 5
nucleus 4
extracellular 2
mitochondrion 2
plasma membrane 1
peroxisome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PADI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IDA 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 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

(6) Drugs for PADI3 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 0
L-Arginine Approved Nutra Full agonist, Agonist 0
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:

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
PADI3
ECgene alternative splicing isoforms for
PADI3

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:

PADI3

SOURCE GeneReport for Unigene cluster for PADI3 Gene:

Hs.149195

mRNA Expression by UniProt/SwissProt for PADI3 Gene:

Q9ULW8-PADI3_HUMAN
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

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
chimpanzee
(Pan troglodytes)
Mammalia PADI3 33 34
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia PADI3 33 34
  • 89.31 (n)
oppossum
(Monodelphis domestica)
Mammalia PADI3 34
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PADI3 33 34
  • 84.99 (n)
rat
(Rattus norvegicus)
Mammalia Padi3 33
  • 84.94 (n)
mouse
(Mus musculus)
Mammalia Padi3 33 16 34
  • 84.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
OneToMany
-- 34
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves PADI3 33
  • 64.54 (n)
lizard
(Anolis carolinensis)
Reptilia PADI3 34
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii padi2 34
  • 46 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PADI3 (if available)
TreeFam:
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 Variation AA Info Type
rs142129409 pathogenic, Uncombable hair syndrome, Uncombable hair syndrome 1 (UHS1) [MIM:191480] 17,262,194(+) T/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs144080386 pathogenic, Uncombable hair syndrome, Uncombable hair syndrome 1 (UHS1) [MIM:191480] 17,270,928(+) C/T coding_sequence_variant, missense_variant
rs144944758 pathogenic, Uncombable hair syndrome, Uncombable hair syndrome 1 (UHS1) [MIM:191480] 17,282,897(+) C/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs781009577 A breast cancer sample 17,276,846(+) G/A 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000092798 -- 17,281,403(+) C/T genic_downstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information for PADI3 Gene

Human Gene Mutation Database (HGMD)
PADI3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PADI3

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

Disorders for PADI3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
uncombable hair syndrome 1
  • uhs1
- elite association - COSMIC cancer census association via MalaCards
Search PADI3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PADI3_HUMAN
  • Uncombable hair syndrome 1 (UHS1) [MIM:191480]: A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age. UHS1 inheritance is autosomal dominant. {ECO:0000269 PubMed:27866708}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PADI3

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

No data available for 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 (The Journal of investigative dermatology 2000) 2 3 4 22 25 58
  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 (The Biochemical journal 2006) 3 22 25 58
  3. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. (PMID: 27866708) Ü Basmanav FB … Betz RC (American journal of human genetics 2016) 3 4 58
  4. 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 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 PADI3 Gene

Sources for PADI3 Gene

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