PIGL Gene Summary [Human]

This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Details

Type
Retained Intron
Official Symbol
PIGL
Official Name
phosphatidylinositol glycan anchor biosynthesis class L [Source:HGNC Symbol;Acc:HGNC:8966]
Ensembl ID
ENSG00000108474
Bio databases IDs NCBI: 9487 Ensembl: ENSG00000108474
Aliases phosphatidylinositol glycan anchor biosynthesis class L, N-acetylglucosaminylphosphatidylinositol deacetylase
Synonyms CHIME, Gm737, LOC102724483, phosphatidylinositol glycan anchor biosynthesis class L, phosphatidylinositol glycan anchor biosynthesis, class L
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 PIGL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • N-acetylglucosaminylphosphatidylinositol deacetylase
  • GlcNAc-PI de-N-acetylase
  • enzyme

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • COVID-19
  • Parkinson disease
  • CHIME syndrome
  • amyotrophic lateral sclerosis
  • syndromic mental retardation
  • hereditary disorder
  • attention deficit hyperactivity disorder
role in cell
  • dipeptide repeat protein sensitivity

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
  • endoplasmic reticulum membrane
  • mitochondria-associated membranes

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • GPI anchor biosynthetic process
  • preassembly of GPI anchor in ER membrane

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • endoplasmic reticulum

Molecular Function

What the gene product does at the molecular level
  • N-acetylglucosaminylphosphatidylinositol deacetylase 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.