PADI1 (peptidyl arginine deiminase 1)

2014-11-01  

Identity

HGNC
LOCATION
1p36.13
LOCUSID
ALIAS
HPAD10,PAD1,PDI,PDI1
FUSION GENES

Other Information

Locus ID:

NCBI: 29943
MIM: 607934
HGNC: 18367
Ensembl: ENSG00000142623

Variants:

dbSNP: 29943
ClinVar: 29943
TCGA: ENSG00000142623
COSMIC: PADI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142623ENST00000375471Q9ULC6

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
186695832008Gene expression profiling identifies genes predictive of oral squamous cell carcinoma.80
187109302008Citrullination of CXCL8 by peptidylarginine deiminase alters receptor usage, prevents proteolysis, and dampens tissue inflammation.58
124169962003cDNA cloning, gene organization and expression analysis of human peptidylarginine deiminase type I.28
156759582005Peptidylarginine deiminase isoforms 1-3 are expressed in the epidermis and involved in the deimination of K1 and filaggrin.28
160918422005The peptidylarginine deiminases expressed in human epidermis differ in their substrate specificities and subcellular locations.22
288447132017PAD1 promotes epithelial-mesenchymal transition and metastasis in triple-negative breast cancer cells by regulating MEK1-ERK1/2-MMP2 signaling.17
205960862010An intronic enhancer driven by NF-κB contributes to transcriptional regulation of peptidylarginine deiminase type I gene in human keratinocytes.8
178515842008Crucial roles of MZF1 and Sp1 in the transcriptional regulation of the peptidylarginine deiminase type I gene (PADI1) in human keratinocytes.6
266162052016Acefylline activates filaggrin deimination by peptidylarginine deiminases in the upper epidermis.2
151506962004Identification of 45 novel SNPs in the 83-kb region containing peptidylarginine deiminase types 1 and 3 loci on chromosomal band 1p36.13.0

Citation

Dessen P

PADI1 (peptidyl arginine deiminase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71626/padi1