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    PADI6 peptidyl arginine deiminase 6 [ Homo sapiens (human) ]

    Gene ID: 353238, updated on 5-Mar-2024

    Summary

    Official Symbol
    PADI6provided by HGNC
    Official Full Name
    peptidyl arginine deiminase 6provided by HGNC
    Primary source
    HGNC:HGNC:20449
    See related
    Ensembl:ENSG00000276747 MIM:610363; AllianceGenome:HGNC:20449
    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
    hPADVI; OZEMA16; PREMBL2
    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. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

    See PADI6 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (17372196..17401699)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (17186145..17215646)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17698691..17728195)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene peptidyl arginine deiminase 3 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 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17703685-17704186 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:17707761-17708960 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:17720217-17721416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17727331-17728267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17743473-17744343 Neighboring gene RCC2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17746283-17746817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17748547-17749301 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17752063-17752701 Neighboring gene regulator of chromosome condensation 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17754621-17755259 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:17755305-17755919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 343 Neighboring gene uncharacterized LOC124903862

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Preimplantation embryonic lethality 2
    MedGen: C4310659 OMIM: 617234 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.
    EBI GWAS Catalog
    Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
    EBI GWAS Catalog

    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    Process Evidence Code Pubs
    involved_in cytoplasm organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic cleavage ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of translation by machinery localization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cortical granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 intermediate filament cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    protein-arginine deiminase type-6
    Names
    peptidyl arginine deiminase, type VI
    peptidyl arginine deiminase-like protein
    peptidylarginine deiminase type 6
    NP_997304.3

    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.

    Genomic

    1. NG_032943.2 RefSeqGene

      Range
      4951..34454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_207421.4NP_997304.3  protein-arginine deiminase type-6

      See identical proteins and their annotated locations for NP_997304.3

      Status: REVIEWED

      Source sequence(s)
      AY422079, AY443100
      Consensus CDS
      CCDS72715.1
      UniProtKB/Swiss-Prot
      Q330K5, Q6TGC4, Q70SX3
      Related
      ENSP00000483125.1, ENST00000619609.1
      Conserved Domains (3) summary
      pfam03068
      Location:295691
      PAD; Protein-arginine deiminase (PAD)
      pfam08526
      Location:9120
      PAD_N; Protein-arginine deiminase (PAD) N-terminal domain
      pfam08527
      Location:122280
      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
      17372196..17401699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332688.1 Reference GRCh38.p14 PATCHES

      Range
      217419..246922
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      17186145..17215646
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)