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Standards Ontologies Notations
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
Annotation information from UniProt.
Gene Ontology (GO)
Displaying entries 1 - 5 of 9 in total
GO Term Evidence Code PMID
positive regulation of ER to Golgi vesicle-mediated transport
embryonic pattern specification
sensory perception of sound
GPI anchor metabolic process
anterior/posterior axis specification
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
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 51 - 60 of 65 in total
HPO ID HPO Term
HP:0006297 Enamel hypoplasia
HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis
HP:0006934 Congenital nystagmus
HP:0007020 Progressive spastic paraplegia
HP:0008936 Axial hypotonia
HP:0010864 Intellectual disability, severe
HP:0011463 Childhood onset
HP:0011471 Gastrostomy tube feeding in infancy
HP:0011968 Feeding difficulties
HP:0012447 Abnormal myelination
Displaying all 2 entries
Disease ID Disease Name
OMIM:615802
  • intellectual disability, autosomal recessive 42
ORPHA:401820
  • autosomal recessive spastic paraplegia type 67
PubChem Disease
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006714
Gene Name
post-GPI attachment to proteins 1
Ortholog
Displaying entries 41 - 50 of 70 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
100761032 CRIGR24808
241062 MGI:2443342 MOUSE28128
316400 RGD:1303213 RATNO42385
100724070 CAVPO22024
101577525 OCTDE06204
100029599 MONDO23172
100561975 ANOCA16028
103659703 URSMA01378
114045794 VOMUR02975
113905745 BOBOX37449
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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