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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PADI1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_013358.3NP_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:284660
      PAD; Protein-arginine deiminase (PAD)
      pfam08526
      Location:1113
      PAD_N; Protein-arginine deiminase (PAD) N-terminal domain
      pfam08527
      Location:115272
      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_047418757.1XP_047274713.1  protein-arginine deiminase type-1 isoform X4

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

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

    4. XM_011541307.3XP_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:284441
      PAD; Protein-arginine deiminase (PAD)
      pfam08526
      Location:1113
      PAD_N; Protein-arginine deiminase (PAD) N-terminal domain
      pfam08527
      Location:115272
      PAD_M; Protein-arginine deiminase (PAD) middle domain
    5. XM_017001102.2XP_016856591.1  protein-arginine deiminase type-1 isoform X1

      UniProtKB/TrEMBL
      B2RBF9
    6. XM_017001101.2XP_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_054331675.1XP_054187650.1  protein-arginine deiminase type-1 isoform X4

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

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

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

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

    6. XM_054331671.1XP_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_054336196.1XP_054192171.1  protein-arginine deiminase type-1 isoform X4

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

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

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

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

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

    RNA

    1. XR_008486014.1 RNA Sequence

    2. XR_008486015.1 RNA Sequence