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PADI3 peptidyl arginine deiminase 3 [ Homo sapiens (human) ]

Gene ID: 51702, updated on 21-Dec-2019

Summary

Official Symbol
PADI3provided by HGNC
Official Full Name
peptidyl arginine deiminase 3provided by HGNC
Primary source
HGNC:HGNC:18337
See related
Ensembl:ENSG00000142619 MIM:606755
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
PAD3; PDI3; UHS1
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 III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
Expression
Biased expression in urinary bladder (RPKM 6.9) and esophagus (RPKM 2.4) See more
Orthologs

Genomic context

See PADI3 in Genome Data Viewer
Location:
1p36.13
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (17249079..17284233)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17575593..17610728)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2783 Neighboring gene peptidyl arginine deiminase 1 Neighboring gene microRNA 3972 Neighboring gene peptidyl arginine deiminase 4 Neighboring gene peptidyl arginine deiminase 6

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
Uncombable hair syndrome
MedGen: C4551573 OMIM: 191480 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126307, MGC126308

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-arginine deiminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-arginine deiminase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
chromatin organization TAS
Traceable Author Statement
more info
 
histone citrullination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein citrullination IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein-arginine deiminase type-3
Names
peptidyl arginine deiminase, type III
peptidylarginine deiminase III
protein-arginine deiminase type III
NP_057317.2
XP_011539873.1
XP_011539874.1
XP_016856952.1

NCBI Reference Sequences (RefSeq)

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_052788.1 RefSeqGene

    Range
    5020..40155
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016233.2NP_057317.2  protein-arginine deiminase type-3

    See identical proteins and their annotated locations for NP_057317.2

    Status: REVIEWED

    Source sequence(s)
    AL590644, BC041592
    Consensus CDS
    CCDS179.1
    UniProtKB/Swiss-Prot
    Q9ULW8
    Related
    ENSP00000364609.3, ENST00000375460.3
    Conserved Domains (3) summary
    pfam03068
    Location:286661
    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: Homo sapiens Updated Annotation Release 109.20191205

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
    17249079..17284233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541572.2XP_011539874.1  protein-arginine deiminase type-3 isoform X3

    See identical proteins and their annotated locations for XP_011539874.1

    Conserved Domains (3) summary
    pfam03068
    Location:286385
    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
  2. XM_011541571.2XP_011539873.1  protein-arginine deiminase type-3 isoform X1

    See identical proteins and their annotated locations for XP_011539873.1

    Conserved Domains (3) summary
    pfam03068
    Location:248623
    PAD; Protein-arginine deiminase (PAD)
    pfam08527
    Location:77234
    PAD_M; Protein-arginine deiminase (PAD) middle domain
    cl19115
    Location:176
    Cupredoxin; Cupredoxin superfamily
  3. XM_017001463.1XP_016856952.1  protein-arginine deiminase type-3 isoform X2

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332688.1 Reference GRCh38.p13 PATCHES

    Range
    91612..126747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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