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FLASH GENE

Symbol

PADI3

contributors: mct/npt - updated : 18-01-2017

HGNC name	peptidyl arginine deiminase, type III
HGNC id	18337

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	UHS uncombable hair syndrome
Location	1p36.13      Physical location : 17.575.592 - 17.610.725
Synonym symbol(s)	PDI3, MGC126307, MGC126308, PAD3, PDI3
EC.number	3.5.3.15

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	35.15 kb     16 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	NF-Y (nuclear factor Y) and Sp1/Sp3 binding sites (PADI3 expression is driven by Sp1/Sp3 and NF-Y binding to the promoter region)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016233 16 - 3189 NP_057317 74.7 664 - 2004 15150696

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Skin/Tegument skin         Homo sapiens   skin appendages hair follicle

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining epidermis stratum granulosum   Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument hair follicle cell Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to rattus proteine-arginine deiminase, type III (Pdi3)

intraspecies

homolog to peptidylarginine deiminase

Homologene

FAMILY

peptidyl arginine deiminase (PAD) family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	catalyzing the post translational modification of proteins through the conversion of arginine to citruline in the presence of Ca2+ ions
	encodes a crucial post-translational modification enzyme that converts protein-bound arginine residues into citrulline residues
	expression specificity of PADI1 and PADI3 during keratinocyte differentiation through a long-range enhancer
	catalyzes the conversion of arginine residues to citrulline residues in the presence of calcium ion, which is an elaborate post-translational modification on the target protein
	deimination of filaggrin (FLG) by PADI1 and PADI3 during the last steps of keratinocyte differentiation is a crucial event for the epidermis function and homeostasis

CELLULAR PROCESS	protein, post translation
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	modulator of hair structure

PATHWAY

metabolism

aminoacid

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein

filaggrin, trichohyalin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

UHS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS