post-GPI attachment to proteins inositol deacylase 1

Summary
Gene Symbol
  • PGAP1
Aliases
  • Bst1
  • FLJ12377
  • GPI inositol-deacylase
  • SPG67
Organism
Homo sapiens (human)
External Links
NCBI Gene
80055
HGNC
25712
KEGG Gene ID
hsa:80055
PubChem
80055
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Hydrolase
  • Intellectual disability
  • Protein transport
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q75T13
  • Post-GPI attachment to proteins factor 1
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K05294
Name
GPI inositol-deacylase [EC:3.-.-.-]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 34 in total
DO ID Disease Name Source
DOID:0060284 paroxysmal nocturnal hemoglobinuria
DOID:0060308 autosomal recessive intellectual developmental disorder
DOID:0060810 syndromic X-linked intellectual disability type 10
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0110881 holoprosencephaly 1
DOID:1059 intellectual disability
DOID:10907 microcephaly
DOID:11832 visual epilepsy
DOID:12139 dysthymic disorder
DOID:12859 choreatic disease
The Human Phenotype Ontology
Displaying entries 31 - 40 of 65 in total
HPO ID HPO Term
HP:0001642 Pulmonic stenosis
HP:0001684 Secundum atrial septal defect
HP:0002059 Cerebral atrophy
HP:0002061 Lower limb spasticity
HP:0002064 Spastic gait
HP:0002069 Bilateral tonic-clonic seizure
HP:0002079 Hypoplasia of the corpus callosum
HP:0002120 Cerebral cortical atrophy
HP:0002121 Generalized non-motor (absence) seizure
HP:0002162 Low posterior hairline
Displaying all 2 entries
Disease ID Disease Name
OMIM:615802
  • intellectual disability, autosomal recessive 42
ORPHA:401820
  • autosomal recessive spastic paraplegia type 67
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006714
Gene Name
post-GPI attachment to proteins 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024