EEPD1 Gene Summary [Human]

Predicted to enable DNA binding activity. Involved in positive regulation of cholesterol efflux. Is anchored component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
EEPD1
Official Name
endonuclease/exonuclease/phosphatase family domain containing 1 [Source:HGNC Symbol;Acc:HGNC:22223]
Ensembl ID
ENSG00000122547
Bio databases IDs NCBI: 80820 Ensembl: ENSG00000122547
Aliases endonuclease/exonuclease/phosphatase family domain containing 1
Synonyms 2310005P05Rik, endonuclease/exonuclease/phosphatase family domain containing 1, HSPC107, KIAA1706, RGD1307401
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 EEPD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Helix-hairpin-helix domain
  • competence protein ComEA helix-hairpin-helix repeat region
  • Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  • protein binding
  • Helix-hairpin-helix motif

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • diabetes mellitus
  • Alzheimer disease
  • schizophrenia
  • refractive error
regulated by
  • NR1H2,3:RXR:NR1H2,3 ligand:EEPD1 gene
  • IL36G
  • PBMCs
  • EEPD1
regulates

Subcellular Expression

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

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human EEPD1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • DNA repair
  • positive regulation of cholesterol efflux

Cellular Component

Where in the cell the gene product is active
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • DNA binding
  • protein binding
  • catalytic activity

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.