Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51702
Gene name	Peptidyl arginine deiminase 3
Gene symbol	PADI3
Synonyms (NCBI Gene)	PAD3PDI3UHS1
Chromosome	1
Chromosome location	1p36.13
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 distin

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SNP ID	Visualize variation	Clinical significance	Consequence
rs34097903	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs139426141	A>G	Pathogenic	Missense variant, coding sequence variant
rs139876092	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs140482516	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs142129409	T>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs144080386	C>T	Pathogenic	Coding sequence variant, missense variant
rs144944758	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1437225536	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1557508308	A>G	Pathogenic	Splice acceptor variant

Show/Hide all (42)

miRTarBase ID	miRNA	Experiments	Reference
MIRT495066	hsa-miR-365a-3p	PAR-CLIP	22291592
MIRT495065	hsa-miR-365b-3p	PAR-CLIP	22291592
MIRT495064	hsa-miR-7851-3p	PAR-CLIP	22291592
MIRT495062	hsa-miR-6765-3p	PAR-CLIP	22291592
MIRT495063	hsa-miR-939-3p	PAR-CLIP	22291592
MIRT498287	hsa-miR-3120-5p	PAR-CLIP	22291592
MIRT495061	hsa-miR-4640-5p	PAR-CLIP	22291592
MIRT495060	hsa-miR-4726-5p	PAR-CLIP	22291592
MIRT495059	hsa-miR-6508-3p	PAR-CLIP	22291592
MIRT498286	hsa-miR-6888-3p	PAR-CLIP	22291592
MIRT495066	hsa-miR-365a-3p	PAR-CLIP	23708386
MIRT495065	hsa-miR-365b-3p	PAR-CLIP	23708386
MIRT495064	hsa-miR-7851-3p	PAR-CLIP	23708386
MIRT495062	hsa-miR-6765-3p	PAR-CLIP	23708386
MIRT495063	hsa-miR-939-3p	PAR-CLIP	23708386
MIRT495061	hsa-miR-4640-5p	PAR-CLIP	23708386
MIRT495060	hsa-miR-4726-5p	PAR-CLIP	23708386
MIRT495059	hsa-miR-6508-3p	PAR-CLIP	23708386
MIRT495066	hsa-miR-365a-3p	PAR-CLIP	22291592
MIRT495065	hsa-miR-365b-3p	PAR-CLIP	22291592
MIRT495064	hsa-miR-7851-3p	PAR-CLIP	22291592
MIRT495062	hsa-miR-6765-3p	PAR-CLIP	22291592
MIRT495063	hsa-miR-939-3p	PAR-CLIP	22291592
MIRT498287	hsa-miR-3120-5p	PAR-CLIP	22291592
MIRT495061	hsa-miR-4640-5p	PAR-CLIP	22291592
MIRT495060	hsa-miR-4726-5p	PAR-CLIP	22291592
MIRT495059	hsa-miR-6508-3p	PAR-CLIP	22291592
MIRT498286	hsa-miR-6888-3p	PAR-CLIP	22291592
MIRT495066	hsa-miR-365a-3p	PAR-CLIP	23708386
MIRT495065	hsa-miR-365b-3p	PAR-CLIP	23708386
MIRT495064	hsa-miR-7851-3p	PAR-CLIP	23708386
MIRT495062	hsa-miR-6765-3p	PAR-CLIP	23708386
MIRT495063	hsa-miR-939-3p	PAR-CLIP	23708386
MIRT495061	hsa-miR-4640-5p	PAR-CLIP	23708386
MIRT495060	hsa-miR-4726-5p	PAR-CLIP	23708386
MIRT495059	hsa-miR-6508-3p	PAR-CLIP	23708386
MIRT1210216	hsa-miR-4426	CLIP-seq
MIRT1210217	hsa-miR-4502	CLIP-seq
MIRT1210218	hsa-miR-4647	CLIP-seq
MIRT1210219	hsa-miR-4662b	CLIP-seq
MIRT2060293	hsa-miR-3620	CLIP-seq
MIRT2060294	hsa-miR-4251	CLIP-seq

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Transcription factor	Regulation	Reference
SP1	Unknown	16671893
SP3	Unknown	16671893

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004668	Function	Protein-arginine deiminase activity	IBA
GO:0004668	Function	Protein-arginine deiminase activity	IEA
GO:0004668	Function	Protein-arginine deiminase activity	IMP	27866708
GO:0004668	Function	Protein-arginine deiminase activity	TAS	10092850
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	27866708
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183

MIM	HGNC	e!Ensembl
606755	18337	ENSG00000142619

Q9ULW8

Protein name

Protein-arginine deiminase type-3 (EC 3.5.3.15) (Peptidylarginine deiminase III) (Protein-arginine deiminase type III)

Protein function

Catalyzes the deimination of arginine residues of proteins.

PDB

6CE1 , 7D4Y , 7D56 , 7D5R , 7D5V , 7D8N , 7DAN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08526	PAD_N	1 → 113	Protein-arginine deiminase (PAD) N-terminal domain	Domain
PF08527	PAD_M	115 → 273	Protein-arginine deiminase (PAD) middle domain	Domain
PF03068	PAD	283 → 661	Protein-arginine deiminase (PAD)	Family

Tissue specificity

TISSUE SPECIFICITY: Hair follicles, and epidermis at very low levels.

Sequence

MSLQRIVRVSLEHPTSAVCVAGVETLVDIYGSVPEGTEMFEVYGTPGVDIYISPNMERGR
ERADTRRWRFDATLEIIVVMNSPSNDLNDSHVQISYHSSHEPLPLAYAVLYLTCVDISLD
CDLNCEGRQDRNFVDKRQWVWGPSGYGGILLVNCDRDDPSCDVQDNCDQHVHCLQDLEDM
SVMVLRTQGPAALFDDHKLVLHTSSYDAKRAQVFHICGPEDVCEAYRHVLGQDKVSYEVP
RLHGDEERFFVEGLSFPDAGFTGLISFHVTLLDDSNEDFSASPIFTDTVVFRVAPWIMTP
STLPPLEVYVCRVRNNTCFVDAVAELARKAGCKLTICPQAENRNDRWIQDEMELGYVQAP
HKTLPVVFDSPRNGELQDFPYKRILGPDFGYVTREPRDRSVSGLDSFGNLEVSPPVVANG
KEYPLGRILIGGNLPGSSGRRVTQVVRDFLHAQKVQPPVELFVDWLAVGHVDEFLSFVPA
PDGKGFRMLLASPGACFKLFQEKQKCGHGRALLFQGVVDDEQVKTISINQVLSNKDLINY
NKFVQSCIDWNREVLKRELGLAECDIIDIPQLFKTERKKATAFFPDLVNMLVLGKHLGIP
KPFGPIINGCCCLEEKVRSLLEPLGLHCTFIDDFTPYHMLHGEVHCGTNVCRKPFSFKWW
NMVP

Sequence length

664

Interactions

View interactions

	Reactome
			Chromatin modifying enzymes

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Central centrifugal cicatricial alopecia	Pathogenic; Likely pathogenic	rs139876092, rs1557508308, rs140482516, rs1437225536	RCV000754636 RCV000754634 RCV000754633 RCV000754635
PADI3-related disorder	Likely pathogenic; Pathogenic	rs142129409	RCV003409583
Uncombable hair syndrome 1	Likely pathogenic; Pathogenic	rs142129409, rs144944758, rs140482516	RCV000415522 RCV000415553 RCV005860136

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alopecia	Associate	33167971
Arthritis Rheumatoid	Associate	17968929, 21859690, 27765067, 33502443
Carcinogenesis	Associate	39206995
Cardiomyopathy Dilated	Associate	39442233
Chronic Disease	Associate	38155185
Colorectal Neoplasms	Inhibit	39206995
Fetal Growth Retardation	Associate	40362485
Glioblastoma	Associate	30597867, 32098295
Herpes Simplex	Associate	38055760
Hidradenitis Suppurativa	Associate	31484788
Hypoxia	Stimulate	33741961
Joint Diseases	Associate	29070531
Lung Diseases	Associate	30515171
Lung Diseases Interstitial	Associate	29070531
Neoplasms	Associate	33573274, 33741961
Neoplasms	Inhibit	39206995
Non Radiographic Axial Spondyloarthritis	Stimulate	33502443
Pancreatic Neoplasms	Associate	33573274
Parkinson Disease	Stimulate	36361903
Rheumatoid Nodule	Associate	27765067
Squamous Cell Carcinoma of Head and Neck	Associate	35922788
Uncombable hair syndrome	Associate	35751533, 36044230

PADI3 (peptidyl arginine deiminase 3)