Identity
HGNC
LOCATION
2q33.1
LOCUSID
ALIAS
Bst1,ISPD3024,MRT42,NEDDSBA,SPG67
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 80055
MIM: 611655
HGNC: 25712
Ensembl: ENSG00000197121
Variants:
dbSNP: 80055
ClinVar: 80055
TCGA: ENSG00000197121
COSMIC: PGAP1
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38167496 | 2024 | Molecular basis of the inositol deacylase PGAP1 involved in quality control of GPI-AP biogenesis. | 0 |
| 38167496 | 2024 | Molecular basis of the inositol deacylase PGAP1 involved in quality control of GPI-AP biogenesis. | 0 |
| 37691099 | 2023 | Downregulation of lncRNA NEAT1 interacts with miR-374b-5p/PGAP1 axis to aggravate the development of osteoarthritis. | 0 |
| 37691099 | 2023 | Downregulation of lncRNA NEAT1 interacts with miR-374b-5p/PGAP1 axis to aggravate the development of osteoarthritis. | 0 |
| 35686740 | 2022 | LncRNA LEMD1-AS1 relieves chondrocyte inflammation by targeting miR-944/PGAP1 in osteoarthritis. | 6 |
| 35686740 | 2022 | LncRNA LEMD1-AS1 relieves chondrocyte inflammation by targeting miR-944/PGAP1 in osteoarthritis. | 6 |
| 25804403 | 2015 | Cerebral visual impairment and intellectual disability caused by PGAP1 variants. | 10 |
| 26050939 | 2015 | Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline. | 10 |
| 25804403 | 2015 | Cerebral visual impairment and intellectual disability caused by PGAP1 variants. | 10 |
| 26050939 | 2015 | Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline. | 10 |
| 24784135 | 2014 | Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. | 41 |
| 24784135 | 2014 | Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. | 41 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 14734546 | 2004 | Inositol deacylation of glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p. | 74 |
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/deep-insight-explorer/
