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 21 - 30 of 34 in total
DO ID Disease Name Source
DOID:3327 partial motor epilepsy
DOID:4090 agnosia
DOID:4480 achondroplasia
DOID:4621 holoprosencephaly
DOID:4964 neurotic disorder
DOID:5212 congenital disorder of glycosylation
DOID:543 dystonia
DOID:8501 fundus dystrophy
DOID:8584 Burkitt lymphoma
DOID:8927 learning disability
The Human Phenotype Ontology
Displaying entries 11 - 20 of 65 in total
HPO ID HPO Term
HP:0000556 Retinal dystrophy
HP:0000582 Upslanted palpebral fissure
HP:0000639 Nystagmus
HP:0000733 Motor stereotypy
HP:0000748 Inappropriate laughter
HP:0000750 Delayed speech and language development
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001256 Intellectual disability, mild
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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