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; GeneCards: PGAP1
Gene location (Human) Chr. Chromosome 2 (human) Band 2q33.1 Start 196,833,004 bp End 196,927,796 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 C1.2 Start 54,512,153 bp End 54,596,843 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell ganglionic eminence skin of thigh ventricular zone buccal mucosa cell Brodmann area 23 sural nerve skin of hip sperm Epithelium of choroid plexus Top expressed in epithelium of small intestine ventromedial nucleus lateral septal nucleus dorsomedial hypothalamic nucleus paraventricular nucleus of hypothalamus lateral hypothalamus anterior amygdaloid area transitional epithelium of urinary bladder mammillary body ventral tegmental area More reference expression data BioGPS 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 hearing 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 Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 80055 241062 Ensembl ENSG00000197121 ENSMUSG00000073678 UniProt Q75T13 Q3UUQ7 RefSeq (mRNA) NM_024989 NM_001321099 NM_001321100 NM_001163314 NM_175508 RefSeq (protein) NP_001308028 NP_001308029 NP_079265 NP_001156786 Location (UCSC) Chr 2: 196.83 – 196.93 Mb Chr 1: 54.51 – 54.6 Mb PubMed search
Wikidata
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Post-GPI attachment to proteins 1 is a protein that in humans is encoded by the PGAP1 gene.

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 intellectual disability, autosomal recessive 42.

Further reading

• Tanaka S, Maeda Y, Tashima Y, Kinoshita T (2004). "Inositol deacylation of glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p". J. Biol. Chem. 279 (14): 14256–63. doi:10.1074/jbc.M313755200. PMID 14734546.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.