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

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: mouse all
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Genomic context

Location:: 1p36.13

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (17205128..17246007)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (17016414..17057242)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (17531623..17572502)

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 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?

IL-22 Downregulates Peptidylarginine Deiminase-1 in Human Keratinocytes: Adding Another Piece to the IL-22 Puzzle in Epidermal Barrier Formation.
Title: IL-22 Downregulates Peptidylarginine Deiminase-1 in Human Keratinocytes: Adding Another Piece to the IL-22 Puzzle in Epidermal Barrier Formation.
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.
Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases.
Title: Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases.
Authors showed that PAD1 interacts with and citrullinates MEK1 thereby disrupting MEK1-catalyzed ERK1/2 phosphorylation, thus leading to the MMP2 overexpression.
Title: PAD1 promotes epithelial-mesenchymal transition and metastasis in triple-negative breast cancer cells by regulating MEK1-ERK1/2-MMP2 signaling.
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.
NF-kappaB-mediated signaling pathway is involved in PADI1 regulation in human epidermal keratinocytes
Title: An intronic enhancer driven by NF-κB contributes to transcriptional regulation of peptidylarginine deiminase type I gene in human keratinocytes.
The expressoin of COL1A1-PADI1 genes were particularly effective in distinguishing OCSS from normal tissue.
Title: Gene expression profiling identifies genes predictive of oral squamous cell carcinoma.
peptidylarginine deiminase citrullinates the chemokine CXCL8, and thus may dampen neutrophil extravasation during acute or chronic inflammation
Title: Citrullination of CXCL8 by peptidylarginine deiminase alters receptor usage, prevents proteolysis, and dampens tissue inflammation.
MZF1 and Sp1/Sp3 binding to the promoter region drive the PADI1 expression in keratinocytes
Title: Crucial roles of MZF1 and Sp1 in the transcriptional regulation of the peptidylarginine deiminase type I gene (PADI1) in human keratinocytes.
cloning, gene organization, and expression analysis
Title: cDNA cloning, gene organization and expression analysis of human peptidylarginine deiminase type I.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

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	IDA Inferred from Direct Assay 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	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

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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

EC 3.5.3.15

XP_011539609.1

EC 3.5.3.15

XP_016856590.1

EC 3.5.3.15

XP_016856591.1

EC 3.5.3.15

XP_016856592.1

EC 3.5.3.15

XP_047274712.1

EC 3.5.3.15

XP_047274713.1

EC 3.5.3.15

XP_054187646.1

EC 3.5.3.15

XP_054187647.1

EC 3.5.3.15

XP_054187648.1

EC 3.5.3.15

XP_054187649.1

EC 3.5.3.15

XP_054187650.1

EC 3.5.3.15

XP_054187651.1

EC 3.5.3.15

XP_054192167.1

EC 3.5.3.15

XP_054192168.1

EC 3.5.3.15

XP_054192169.1

EC 3.5.3.15

XP_054192170.1

EC 3.5.3.15

XP_054192171.1

EC 3.5.3.15

XP_054192172.1

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.

mRNA and Protein(s)

NM_013358.3 → NP_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:284 → 660

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

17205128..17246007

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047418757.1 → XP_047274713.1 protein-arginine deiminase type-1 isoform X4
XM_047418756.1 → XP_047274712.1 protein-arginine deiminase type-1 isoform X3
XM_017001103.3 → XP_016856592.1 protein-arginine deiminase type-1 isoform X2
XM_011541307.3 → XP_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:284 → 441

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_017001102.2 → XP_016856591.1 protein-arginine deiminase type-1 isoform X1

UniProtKB/TrEMBL

B2RBF9
XM_017001101.2 → XP_016856590.1 protein-arginine deiminase type-1 isoform X1

UniProtKB/TrEMBL

B2RBF9