Entity Details

Primary name PGAP1
Entity type gene
Source Source Link

Details

PrimaryID80055
RefseqGeneNG_046780
SymbolPGAP1
Namepost-GPI attachment to proteins inositol deacylase 1
Chromosome2
Location2q33.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPGAP1_HUMAN

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006505 GPI anchor metabolic process
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0007605 sensory perception of sound
GO:0009880 embryonic pattern specification
GO:0009948 anterior/posterior axis specification
GO:0015031 protein transport
GO:0016021 integral component of membrane
GO:0016255 attachment of GPI anchor to protein
GO:0021871 forebrain regionalization
GO:0050185 phosphatidylinositol deacylase activity
GO:1902953 positive regulation of ER to Golgi vesicle-mediated transport

Diseases

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Disease IDSourceNameDescription
615802 OMIMMental retardation, autosomal recessive 42 (MRT42)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry.