PIGC Gene Summary [Human]

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]

Details

Type
Processed Transcript
Official Symbol
PIGC
Official Name
phosphatidylinositol glycan anchor biosynthesis class C [Source:HGNC Symbol;Acc:HGNC:8960]
Ensembl ID
ENSG00000135845
Bio databases IDs NCBI: 5279 Ensembl: ENSG00000135845
Aliases phosphatidylinositol glycan anchor biosynthesis class C, phosphatidylinositol N-acetylglucosaminyltransferase
Synonyms 3110030E07Rik, GPI2, GPIBD16, MRT62, phosphatidylinositol glycan anchor biosynthesis class C, phosphatidylinositol glycan anchor biosynthesis, class C
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 PIGC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • phosphatidylinositol N-acetylglucosaminyltransferase
  • enzyme
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • idiopathic hydrops fetalis
  • non-insulin-dependent diabetes mellitus
  • autosomal recessive mental retardation 62
  • global developmental delay

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 membrane

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • GPI anchor biosynthetic process

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex

Molecular Function

What the gene product does at the molecular level
  • 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.