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

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; AllianceGenome:HGNC:18337
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: mouse all
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Genomic context

Location:: 1p36.13

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (17249098..17284233)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (17060334..17095464)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (17575593..17610728)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Peptidylarginine Deiminase Inhibitor Application, Using Cl-Amidine, PAD2, PAD3 and PAD4 Isozyme-Specific Inhibitors in Pancreatic Cancer Cells, Reveals Roles for PAD2 and PAD3 in Cancer Invasion and Modulation of Extracellular Vesicle Signatures.
Title: Peptidylarginine Deiminase Inhibitor Application, Using Cl-Amidine, PAD2, PAD3 and PAD4 Isozyme-Specific Inhibitors in Pancreatic Cancer Cells, Reveals Roles for PAD2 and PAD3 in Cancer Invasion and Modulation of Extracellular Vesicle Signatures.
Structures of human peptidylarginine deiminase type III provide insights into substrate recognition and inhibitor design.
Title: Structures of human peptidylarginine deiminase type III provide insights into substrate recognition and inhibitor design.
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.
Peptidylarginine Deiminase Isozyme-Specific PAD2, PAD3 and PAD4 Inhibitors Differentially Modulate Extracellular Vesicle Signatures and Cell Invasion in Two Glioblastoma Multiforme Cell Lines.
Title: Peptidylarginine Deiminase Isozyme-Specific PAD2, PAD3 and PAD4 Inhibitors Differentially Modulate Extracellular Vesicle Signatures and Cell Invasion in Two Glioblastoma Multiforme Cell Lines.
Mutations in PADI3, which encodes a protein that is essential to proper hair-shaft formation, were associated with Central Centrifugal Cicatricial Alopecia.
Title: Variant PADI3 in Central Centrifugal Cicatricial Alopecia.
The two enzymes PADI3 and TGM3, responsible for posttranslational protein modifications, and their target structural protein TCHH are all involved in hair shaft formation.
Title: Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
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.
We identified the presence of PADI3 mRNA expression in synovial tissue and PADI2 and PADI4 mRNA expressions in fibroblast-like synoviocytes from patients with rheumatoid arthritis.
Title: The amount of citrullinated proteins in synovial tissue is related to serum anti-cyclic citrullinated peptide (anti-CCP) antibody levels.
The prevalence and extent of ILD was markedly higher among RA patients with anti-PAD3/4 cross-reactive antibodies, even after accounting for relevant confounders, particularly among ever smokers.
Title: Association of cross-reactive antibodies targeting peptidyl-arginine deiminase 3 and 4 with rheumatoid arthritis-associated interstitial lung disease.
Crystals of PAD3 obtained using polyethylene glycol 400 as a precipitant diffracted to 2.95 A resolution using synchrotron radiation
Title: Crystallization and preliminary X-ray crystallographic analysis of human peptidylarginine deiminase type III.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

Associated conditions

Description	Tests
Uncombable hair syndrome 1 MedGen: C4551573 OMIM: 191480 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction 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	IMP Inferred from Mutant Phenotype 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 intracellular membrane-bounded organelle	IDA Inferred from Direct Assay 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-3

Names: peptidyl arginine deiminase, type III; peptidylarginine deiminase III; protein-arginine deiminase type III

NP_057317.2

EC 3.5.3.15

XP_011539873.1

EC 3.5.3.15

XP_011539874.1

EC 3.5.3.15

XP_016856952.1

EC 3.5.3.15

XP_054187652.1

EC 3.5.3.15

XP_054187653.1

EC 3.5.3.15

XP_054187654.1

EC 3.5.3.15

XP_054192965.1

EC 3.5.3.15

XP_054192966.1

EC 3.5.3.15

XP_054192967.1

EC 3.5.3.15

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

NG_052788.1 RefSeqGene

Range

5020..40155

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_016233.2 → NP_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

Q58EY7, Q70SX5, Q9ULW8

Related

ENSP00000364609.3, ENST00000375460.3

Conserved Domains (3) summary

pfam03068
Location:286 → 661

PAD; Protein-arginine deiminase (PAD)

pfam08526
Location:1 → 113

PAD_N; Protein-arginine deiminase (PAD) N-terminal domain

pfam08527
Location:115 → 273

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

17249098..17284233

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011541572.3 → XP_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:286 → 385

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
XM_011541571.3 → XP_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:248 → 623

PAD; Protein-arginine deiminase (PAD)

pfam08527
Location:77 → 234

PAD_M; Protein-arginine deiminase (PAD) middle domain

cl19115
Location:1 → 76

Cupredoxin; Cupredoxin superfamily
XM_017001463.2 → XP_016856952.1 protein-arginine deiminase type-3 isoform X2