Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

GO_REF:0000033

Annotation inferences using phylogenetic trees

GO_REF:0000044

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

PMID:24784135

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.

PGAP1 is the GPI inositol-deacylase that removes an acyl chain from the inositol of GPI anchors in the ER immediately after attachment of GPI to proteins; a homozygous null variant (p.Leu197del) causes autosomal-recessive intellectual disability and encephalopathy.

PMID:38167496

Molecular basis of the inositol deacylase PGAP1 involved in quality control of GPI-AP biogenesis.

PGAP1 resides in the ER membrane, initiates the post-attachment remodeling phase by removing the inositol-linked acyl chain of nascent GPI-anchored proteins via serine-hydrolase-type catalysis, and this deacylation is required for efficient ER-to-Golgi export via p24-family cargo receptors.

PMID:24482476

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Independent exome-sequencing evidence linking PGAP1 variants to the neurodevelopmental disorder (NEDDSBA); cited by UniProt for disease involvement.

Reactome:R-HSA-162729

uPAR-acyl-GPI + H2O -> uPAR + long-chain fatty acid

Models the PGAP1-catalyzed removal of the inositol-linked fatty acid from GPI-conjugated uPAR in the ER, associated with efficient ER-to-Golgi transport.

Reactome:R-HSA-162791

Attachment of GPI anchor to uPAR

Pathway in which the transferred GPI moiety is deacylated (by PGAP1), yielding a uPAR-GPI conjugate that can be efficiently transported to the Golgi.

file:human/PGAP1/PGAP1-uniprot.txt

UniProtKB entry Q75T13 (PGAP1_HUMAN)

PGAP1 is a GPI inositol-deacylase, a multi-pass ER membrane protein belonging to the GPI inositol-deacylase family, with EC 3.1.-.- carboxylic-ester hydrolase activity; deficiency causes NEDDSBA (MIM:615802).