PADI3 - peptidyl arginine deiminase 3 Gene

Homo sapiens

Also known as PAD3; PDI3; UHS1

Gene ID: 51702 | Gene type: protein coding

About PADI3

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:17,249,098-17,284,233 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 233 orthologues, 4 paralogues and is associated with 2 phenotypes. Biased expression in urinary bladder (RPKM 6.9) and esophagus (RPKM 2.4).

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 III Enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I Enzyme, this Enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]

PADI3 Products(1)

mRNA	Protein	Name
NM_016233.2	NP_057317.2	protein-arginine deiminase type-3

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein-arginine deiminase activity	IMP IMP: Inferred from mutant phenotype	27866708	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	27866708	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PADI3 Protein Structure

PAD_N

PAD_M

PAD

0
200
400
600
664 a.a.

Protein Preferred Names

Protein Names

protein-arginine deiminase type-3

peptidyl arginine deiminase, type III

Related Diseases

Diseases

Alias

Uncombable Hair Syndrome 1

Uncombable Hair Syndrome	Pili Trianguli Et Canaliculi
Uhs	Cheveux Incoiffables
Spun Glass Hair	Unmanageable Hair Syndrome
UHS1	Chevelure En Vadrouille

Central Centrifugal Cicatricial Alopecia

CCCA	Central Centrifugal Alopecia

Loose Anagen Hair Syndrome

Loose Anagen Syndrome

LAHS

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09962	PADI3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PADI3	VGNC	VGNC:106465
Canis familiaris	PADI3	VGNC	VGNC:44236
Bos taurus	PADI3	VGNC	VGNC:32547
Mus musculus	PADI3	MGD	MGI:1338891
Rattus norvegicus	PADI3	RGD	RGD:3289
Felis catus	PADI3	VGNC	VGNC:80297

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