RPTN Gene Summary [Human]

Predicted to enable calcium ion binding activity and transition metal ion binding activity. Predicted to be located in cytosol. Predicted to be active in cornified envelope. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
RPTN
Official Name
repetin [Source:HGNC Symbol;Acc:HGNC:26809]
Ensembl ID
ENSG00000215853
Bio databases IDs NCBI: 126638 Ensembl: ENSG00000215853
Aliases repetin
Synonyms FLJ39117, repetin
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 RPTN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • S-100/ICaBP type calcium binding domain
  • High molecular weight glutenin subunit
  • EF-hand domain pair
  • EFh

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • cutaneous mastocytosis
  • neuroblastoma
  • neuroblastoma formation
  • mastocytosis
  • infection by HIV-1
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
  • cornified envelope
  • granules
  • cytosol

Gene Ontology Annotations

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

Cellular Component

Where in the cell the gene product is active
  • cornified envelope
  • cytosol
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • transition metal ion binding
  • calcium ion binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.