PGAP1

PGAP1
Identifiers
Aliases	PGAP1, Bst1, ISPD3024, MRT42, SPG67, post-GPI attachment to proteins 1, post-GPI attachment to proteins inositol deacylase 1, NEDDSBA
External IDs	OMIM: 611655 MGI: 2443342 HomoloGene: 41605 GeneCards: PGAP1
Gene location (Human)
Chr.	Chromosome 2 (human)[1]
End	196,927,796 bp[1]
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)[2]
End	54,596,843 bp[2]
RNA expression pattern
	Top expressed in
	endothelial cell; ; ganglionic eminence; ; Brodmann area 23; ; sural nerve; ; sperm; ; tibia; ; visceral pleura; ; nipple; ; Region I of hippocampus proper; ; anterior pituitary;
	Top expressed in
	ventromedial nucleus; ; dorsomedial hypothalamic nucleus; ; paraventricular nucleus of hypothalamus; ; lateral hypothalamus; ; mammillary body; ; ventral tegmental area; ; suprachiasmatic nucleus; ; arcuate nucleus; ; habenula; ; ganglionic eminence;
	More reference expression data
	n/a
Gene ontology
Molecular function	nuclease activity; phosphoric ester hydrolase activity; hydrolase activity; hydrolase activity, acting on ester bonds; phosphatidylinositol deacylase activity;
Cellular component	integral component of membrane; endoplasmic reticulum membrane; membrane; endoplasmic reticulum;
Biological process	embryonic pattern specification; nucleic acid phosphodiester bond hydrolysis; head development; attachment of GPI anchor to protein; sensory perception of sound; forebrain regionalization; protein transport; GPI anchor biosynthetic process; myo-inositol transport; anterior/posterior axis specification; GPI anchor metabolic process; endoplasmic reticulum to Golgi vesicle-mediated transport;
	Sources:Amigo / QuickGO
Orthologs
	80055
	241062
	ENSG00000197121
	ENSMUSG00000073678
	Q75T13
	Q3UUQ7
	NM_024989; NM_001321099; NM_001321100
	NM_001163314; NM_175508
	NP_001308028; NP_001308029; NP_079265
	NP_001156786
	Wikidata
View/Edit Human	View/Edit Mouse

Post-GPI attachment to proteins 1 is a protein that in humans is encoded by the PGAP1 gene.[5]

Function

The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause of mental retardation, autosomal recessive 42.

References

GRCh38: Ensembl release 89: ENSG00000197121 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000073678 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: Post-GPI attachment to proteins 1". Retrieved 2016-04-04.

PGAP1

Function

References

Further reading