ESD Gene Summary [Human]

This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009]

Details

Type
Protein Coding
Official Symbol
ESD
Official Name
esterase D [Source:HGNC Symbol;Acc:HGNC:3465]
Ensembl ID
ENSG00000139684
Bio databases IDs NCBI: 2098 Ensembl: ENSG00000139684
Aliases esterase D, S-formylglutathione hydrolase
Synonyms Es-10, Esterase 10, Esterase D, esterase D/formylglutathione hydrolase, FGH, S-Formylglutathione Hydrolase, sid478
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 ESD 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-formylglutathione hydrolase
  • Prolyl oligopeptidase family
  • alpha/beta hydrolases
  • Putative esterase
  • enzyme
  • protein binding
  • identical protein binding
  • carboxylesterase
  • ester bond hydrolase

Pathways

Biological processes and signaling networks where the ESD gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • glycogen storage disease type II
regulated by
regulates
  • S-formylglutathione

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
  • endoplasmic reticulum lumen
  • cytoplasmic vesicles

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • formaldehyde catabolic process

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum lumen
  • extracellular vesicular exosome
  • cytoplasmic vesicle
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • methylumbelliferyl-acetate deacetylase activity
  • hydrolase activity, acting on ester bonds
  • S-formylglutathione hydrolase activity
  • identical protein binding
  • protein binding
  • carboxylic ester hydrolase 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.