PADI1 Gene Summary [Human]

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 I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
PADI1
Official Name
peptidyl arginine deiminase 1 [Source:HGNC Symbol;Acc:HGNC:18367]
Ensembl ID
ENSG00000142623
Bio databases IDs NCBI: 29943 Ensembl: ENSG00000142623
Aliases peptidyl arginine deiminase 1, peptidylarginine deiminase type I, protein-arginine deiminase type-1, hPAD-colony 10
Synonyms HPAD10, PAD1, PDI, PDI1, peptidyl arginine deiminase 1, peptidyl arginine deiminase, type I
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PADI1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein-arginine deiminase
  • Protein-arginine deiminase (PAD) N-terminal domain
  • Cupredoxin superfamily
  • Protein-arginine deiminase (PAD)
  • calcium ion binding
  • enzyme
  • protein binding
  • Protein-arginine deiminase (PAD) middle domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • vitamin D deficiency
  • keratocystic odontogenic tumor
  • keratocystic odontogenic tumors
regulated by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytosol
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PADI1 gene, providing context for its role in the cell.

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • cytoplasm
  • cytosol
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein-arginine deiminase activity
  • calcium ion binding

Gene-Specific Assays for Results You Can Trust

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