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

Gene ID: 353238, updated on 23-Nov-2021

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
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; 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
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (17372196..17401699)
105.20201022 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 peptidyl arginine deiminase 4 Neighboring gene RCC2 antisense RNA 1 Neighboring gene regulator of chromosome condensation 2 Neighboring gene Rho guanine nucleotide exchange factor 10 like Neighboring gene Sharpr-MPRA regulatory region 1053

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
Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.
GeneReviews: Not available
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
GeneReviews: Not available
Preimplantation embryonic lethality 2
MedGen: C4310659 OMIM: 617234 GeneReviews: Not available
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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 histone citrullination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 

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)

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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.

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
    Q6TGC4
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    17372196..17401699
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332688.1 Reference GRCh38.p13 PATCHES

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