PIGU

Chr 20q11.22

phosphatidylinositol glycan anchor biosynthesis class U

Aliases:: bA346K17.2, GAB1, PIG-U
MANE:: ENST00000217446.8

OMIM: 608528 ↗NCBI: 128869 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PIGU · Q9H490

v62025-08-01

Predicted Aligned Error matrix for PIGU — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.7/ 100

Very high

435 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)12%
Low(50–70)3%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

glycosylphosphatidylinositol biosynthesis defect 21
0.69
skin neoplasm
0.36
skin cancer
0.36
basal cell carcinoma
0.33
cutaneous melanoma
0.33
skin disorder
0.31
actinic keratosis
0.29
Thromboembolism
0.29
seborrheic keratosis
0.28
ischemic stroke
0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

GPI-anchor transamidase component PIGU

Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMed:12802054, PubMed:31353022, PubMed:34576938, PubMed:35165458, PubMed:35551457, PubMed:37684232). Binds the lipid portion of GPI-anchor (PubMed:37684232). May act as an organizer in the transmembrane layer to recruit other subunits, and thus is essential for assembly of the complex (PubMed:35165458, PubMed:35551457)