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PADI1 peptidyl arginine deiminase 1 [ Homo sapiens (human) ]

Gene ID: 29943, updated on 3-Apr-2024

Summary

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Official Symbol
PADI1provided by HGNC
Official Full Name
peptidyl arginine deiminase 1provided by HGNC
Primary source
HGNC:HGNC:18367
See related
Ensembl:ENSG00000142623 MIM:607934; AllianceGenome:HGNC:18367
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PDI; PAD1; PDI1; HPAD10
Summary
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]
Expression
Biased expression in esophagus (RPKM 30.8) and skin (RPKM 4.2) See more
Orthologs
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Genomic context

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Location:
1p36.13
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (17205128..17246007)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (17016414..17057242)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17531623..17572502)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17519557-17520058 Neighboring gene long intergenic non-protein coding RNA 2783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17536705-17537206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17585529-17586030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17586031-17586530 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:17597192-17597435 Neighboring gene peptidyl arginine deiminase 3 Neighboring gene NANOG hESC enhancer GRCh37_chr1:17600492-17600993 Neighboring gene microRNA 3972 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:17621951-17622120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17631014-17631874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17642404-17642961 Neighboring gene peptidyl arginine deiminase 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17685053-17685772

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases. Méchin MC, et al. Int J Mol Sci, 2020 Jan 15. PMID 31952341, Free PMC Article
  2. PAD1 promotes epithelial-mesenchymal transition and metastasis in triple-negative breast cancer cells by regulating MEK1-ERK1/2-MMP2 signaling. Qin H, et al. Cancer Lett, 2017 Nov 28. PMID 28844713, Free PMC Article
  3. IL-22 Downregulates Peptidylarginine Deiminase-1 in Human Keratinocytes: Adding Another Piece to the IL-22 Puzzle in Epidermal Barrier Formation. Padhi A, et al. J Invest Dermatol, 2022 Feb. PMID 34352263
  4. Monomeric Form of Peptidylarginine Deiminase Type I Revealed by X-ray Crystallography and Small-Angle X-ray Scattering. Saijo S, et al. J Mol Biol, 2016 Jul 31. PMID 27393304
  5. Citrullination of CXCL8 by peptidylarginine deiminase alters receptor usage, prevents proteolysis, and dampens tissue inflammation. Proost P, et al. J Exp Med, 2008 Sep 1. PMID 18710930, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. IL-22 Downregulates Peptidylarginine Deiminase-1 in Human Keratinocytes: Adding Another Piece to the IL-22 Puzzle in Epidermal Barrier Formation.
    Title: IL-22 Downregulates Peptidylarginine Deiminase-1 in Human Keratinocytes: Adding Another Piece to the IL-22 Puzzle in Epidermal Barrier Formation.
  2. Citrullination of pyruvate kinase M2 by PADI1 and PADI3 regulates glycolysis and cancer cell proliferation.
    Title: Citrullination of pyruvate kinase M2 by PADI1 and PADI3 regulates glycolysis and cancer cell proliferation.
  3. Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases.
    Title: Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases.
  4. Authors showed that PAD1 interacts with and citrullinates MEK1 thereby disrupting MEK1-catalyzed ERK1/2 phosphorylation, thus leading to the MMP2 overexpression.
    Title: PAD1 promotes epithelial-mesenchymal transition and metastasis in triple-negative breast cancer cells by regulating MEK1-ERK1/2-MMP2 signaling.
  5. Identify acefylline as an activator of peptidylarginine deiminase 1 and 3 in the epidermis, resulting in filaggrin deimination.
    Title: Acefylline activates filaggrin deimination by peptidylarginine deiminases in the upper epidermis.
  6. NF-kappaB-mediated signaling pathway is involved in PADI1 regulation in human epidermal keratinocytes
    Title: An intronic enhancer driven by NF-κB contributes to transcriptional regulation of peptidylarginine deiminase type I gene in human keratinocytes.
  7. The expressoin of COL1A1-PADI1 genes were particularly effective in distinguishing OCSS from normal tissue.
    Title: Gene expression profiling identifies genes predictive of oral squamous cell carcinoma.
  8. peptidylarginine deiminase citrullinates the chemokine CXCL8, and thus may dampen neutrophil extravasation during acute or chronic inflammation
    Title: Citrullination of CXCL8 by peptidylarginine deiminase alters receptor usage, prevents proteolysis, and dampens tissue inflammation.
  9. MZF1 and Sp1/Sp3 binding to the promoter region drive the PADI1 expression in keratinocytes
    Title: Crucial roles of MZF1 and Sp1 in the transcriptional regulation of the peptidylarginine deiminase type I gene (PADI1) in human keratinocytes.
  10. cloning, gene organization, and expression analysis
    Title: cDNA cloning, gene organization and expression analysis of human peptidylarginine deiminase type I.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein-arginine deiminase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein-arginine deiminase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
protein-arginine deiminase type-1
Names
hPAD-colony 10
peptidyl arginine deiminase, type I
peptidylarginine deiminase I
protein-arginine deiminase type I
NP_037490.2
XP_011539609.1
XP_016856590.1
XP_016856591.1
XP_016856592.1
XP_047274712.1
XP_047274713.1
XP_054187646.1
XP_054187647.1
XP_054187648.1
XP_054187649.1
XP_054187650.1
XP_054187651.1
XP_054192167.1
XP_054192168.1
XP_054192169.1
XP_054192170.1
XP_054192171.1
XP_054192172.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_013358.3 → NP_037490.2  protein-arginine deiminase type-1

    See identical proteins and their annotated locations for NP_037490.2

    Status: REVIEWED

    Source sequence(s)
    AL590644, BC130574
    Consensus CDS
    CCDS178.1
    UniProtKB/Swiss-Prot
    A1L4K6, Q70SX6, Q9ULC6
    UniProtKB/TrEMBL
    B2RBF9
    Related
    ENSP00000364620.4, ENST00000375471.5
    Conserved Domains (3) summary
    pfam03068
    Location:284 → 660
    PAD; Protein-arginine deiminase (PAD)
    pfam08526
    Location:1 → 113
    PAD_N; Protein-arginine deiminase (PAD) N-terminal domain
    pfam08527
    Location:115 → 272
    PAD_M; Protein-arginine deiminase (PAD) middle domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    17205128..17246007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418757.1 → XP_047274713.1  protein-arginine deiminase type-1 isoform X4

  2. XM_047418756.1 → XP_047274712.1  protein-arginine deiminase type-1 isoform X3

  3. XM_017001103.3 → XP_016856592.1  protein-arginine deiminase type-1 isoform X2

  4. XM_011541307.3 → XP_011539609.1  protein-arginine deiminase type-1 isoform X5

    See identical proteins and their annotated locations for XP_011539609.1

    Conserved Domains (3) summary
    pfam03068
    Location:284 → 441
    PAD; Protein-arginine deiminase (PAD)
    pfam08526
    Location:1 → 113
    PAD_N; Protein-arginine deiminase (PAD) N-terminal domain
    pfam08527
    Location:115 → 272
    PAD_M; Protein-arginine deiminase (PAD) middle domain

  5. XM_017001102.2 → XP_016856591.1  protein-arginine deiminase type-1 isoform X1

    UniProtKB/TrEMBL
    B2RBF9

  6. XM_017001101.2 → XP_016856590.1  protein-arginine deiminase type-1 isoform X1

    UniProtKB/TrEMBL
    B2RBF9

RNA

  1. XR_946619.3 RNA Sequence

  2. XR_007059265.1 RNA Sequence

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332688.1 Reference GRCh38.p14 PATCHES

    Range
    47642..88521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331675.1 → XP_054187650.1  protein-arginine deiminase type-1 isoform X4

  2. XM_054331674.1 → XP_054187649.1  protein-arginine deiminase type-1 isoform X3

  3. XM_054331673.1 → XP_054187648.1  protein-arginine deiminase type-1 isoform X2

  4. XM_054331676.1 → XP_054187651.1  protein-arginine deiminase type-1 isoform X5

  5. XM_054331672.1 → XP_054187647.1  protein-arginine deiminase type-1 isoform X1

  6. XM_054331671.1 → XP_054187646.1  protein-arginine deiminase type-1 isoform X1

RNA

  1. XR_008485726.1 RNA Sequence

  2. XR_008485727.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    17016414..17057242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336196.1 → XP_054192171.1  protein-arginine deiminase type-1 isoform X4

  2. XM_054336195.1 → XP_054192170.1  protein-arginine deiminase type-1 isoform X3

  3. XM_054336194.1 → XP_054192169.1  protein-arginine deiminase type-1 isoform X2

  4. XM_054336197.1 → XP_054192172.1  protein-arginine deiminase type-1 isoform X5

  5. XM_054336193.1 → XP_054192168.1  protein-arginine deiminase type-1 isoform X1

  6. XM_054336192.1 → XP_054192167.1  protein-arginine deiminase type-1 isoform X1

RNA

  1. XR_008486014.1 RNA Sequence

  2. XR_008486015.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9ULC6.2 GenPept UniProtKB/Swiss-Prot:Q9ULC6

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