Gene_Locus Report

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Gene_locus Report for: human-PGAP1

Name Class
human-PGAP1NameHomo sapiens (Human)GPI inositol-deacylase PGAP1 117.8 kd protein in ste2-frs2 intergenic region
SpeciesHomo sapiens
Organismman
Gene_namehPGAP1
PGAP1
FLJ12377
BlockX
FamilyPGAP1
DiseaseMental retardation, autosomal recessive 42 MRT42
Database (12)
PaperHong_2024_Nat.Commun_15_8
Tanaka_2004_J.Biol.Chem_279_14256
Hillier_2005_Nature_434_724
Murakami_2014_PLoS.Genet_10_e1004320
Commentonly n-term Pfam A PGAP1 82 302 is the alpha/beta hydrolase domain. PGAP1Involved in inositol deacylation of GPI-anchored proteins. GPI inositol deacylation may important for efficient transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi.Mutations in PGAP1 result in the disease: Mental 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. Hereditary spastic paraplegias (HSPs) SPG67
Proteinhuman-PGAP1
Peptidehuman-PGAP1
Mutation (9)
Tree_nodePGAP1268785
OldTremblB8ZZY1

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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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