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

    Gene ID: 29943, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See PADI1 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (17205128..17246007)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (17016414..17057242)
    RS_2024_09 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 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. The peptidylarginine deiminases expressed in human epidermis differ in their substrate specificities and subcellular locations. Méchin MC, et al. Cell Mol Life Sci, 2005 Sep. PMID 16091842, Free PMC Article
    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 binding IPI
    Inferred from Physical Interaction
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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