PIGV

This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

Description

Phosphatidylinositol glycan anchor biosynthesis class V

Tissue specificity

Low tissue specificity

Subcell location

Endoplasmic reticulum, Cytosol

Predicted location

Membrane

Protein family

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

Chromosome

1 (26787054 - 26800659)

Ensembl ID

ENSG00000060642  (ver. 103.38)

Orthologs

Mouse Pigv: ENSMUSG00000043257

UniProt

Q9NUD9

neXtProt

NX_Q9NUD9

Human splice variants
Mouse splice variants

Protein structure