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

Show/Hide all (15)

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PADI3-related disorder	Likely pathogenic; Pathogenic	rs142129409	RCV003409583	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uncombable hair syndrome 1	Likely pathogenic; Pathogenic	rs142129409, rs144944758, rs140482516	RCV000415522 RCV000415553 RCV005860136	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNCOMBABLE HAIR SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia Areata	Alopecia Areata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17968929, 21859690, 27765067, 33502443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39206995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	39442233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central centrifugal cicatricial alopecia	Central Centrifugal Cicatricial Alopecia	BEFREE	30763140		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Central centrifugal cicatricial alopecia	Central Centrifugal Cicatricial Alopecia	CLINVAR_DG	30763140		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic Disease	Chronic disease	Pubtator	38155185	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31708688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39206995	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30597867, 32098295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33741961	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30515171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	30515171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	29070531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	29070531, 29566742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31708688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33573274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36361903	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17968929, 26255191, 30515171		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35922788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichodysplasia	Trichodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uncombable hair syndrome	Uncombable Hair Syndrome	BEFREE	27866708		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uncombable hair syndrome	Uncombable Hair Syndrome	ORPHANET_DG	27866708		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uncombable hair syndrome	Uncombable Hair Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uncombable hair syndrome	Uncombable hair syndrome	Pubtator	35751533, 36044230	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uncombable hair syndrome	Uncombable Hair Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNCOMBABLE HAIR SYNDROME 1	Uncombable hair syndrome	UNIPROT_DG	27866708		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UNCOMBABLE HAIR SYNDROME 1	Uncombable hair syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

PADI3 (peptidyl arginine deiminase 3)