PGAP1 (post-GPI attachment to proteins inositol deacylase 1)

2014-11-01  

Identity

HGNC
LOCATION
2q33.1
LOCUSID
ALIAS
Bst1,ISPD3024,MRT42,NEDDSBA,SPG67
FUSION GENES

Other Information

Locus ID:

NCBI: 80055
MIM: 611655
HGNC: 25712
Ensembl: ENSG00000197121

Variants:

dbSNP: 80055
ClinVar: 80055
TCGA: ENSG00000197121
COSMIC: PGAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197121ENST00000354764Q75T13
ENSG00000197121ENST00000374738A6NI33
ENSG00000197121ENST00000409188B4DYY6
ENSG00000197121ENST00000409475Q75T13
ENSG00000197121ENST00000422444H7BZN8
ENSG00000197121ENST00000423035F8WD75

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGko00563
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGhsa00563
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125
Attachment of GPI anchor to uPARREACTOMER-HSA-162791

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
147345462004Inositol deacylation of glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p.53
247841352014Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.27
258044032015Cerebral visual impairment and intellectual disability caused by PGAP1 variants.6
260509392015Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.6

Citation

Dessen P

PGAP1 (post-GPI attachment to proteins inositol deacylase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71856/pgap1