PIGP

This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

Description

Phosphatidylinositol glycan anchor biosynthesis class P

Tissue specificity

Low tissue specificity

Subcell location

Vesicles

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Predicted membrane proteins

Chromosome

21 (37062846 - 37073170)

Ensembl ID

ENSG00000185808  (ver. 103.38)

Orthologs

Mouse Pigp: ENSMUSG00000022940

UniProt

P57054

neXtProt

NX_P57054

Human splice variants
Mouse splice variants

Protein structure