Identity
HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
GROS1,LEPRE1,OI8
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: 64175
MIM: 610339
HGNC: 19316
Ensembl: ENSG00000117385
Variants:
dbSNP: 64175
ClinVar: 64175
TCGA: ENSG00000117385
COSMIC: P3H1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Extracellular matrix organization | REACTOME | R-HSA-1474244 |
| Collagen formation | REACTOME | R-HSA-1474290 |
| Collagen biosynthesis and modifying enzymes | REACTOME | R-HSA-1650814 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36833249 | 2023 | A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII. | 1 |
| 36833249 | 2023 | A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII. | 1 |
| 35052464 | 2022 | Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia). | 2 |
| 35190588 | 2022 | Biomarker LEPRE1 induces pelitinib-specific drug responsiveness by regulating ABCG2 expression and tumor transition states in human leukemia and lung cancer. | 5 |
| 35327962 | 2022 | Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant. | 1 |
| 35859453 | 2022 | Cell Surface Accumulation of Intracellular Leucine Proline-Enriched Proteoglycan 1 Enhances Odontogenic Potential of Human Dental Pulp Stem Cells. | 0 |
| 35052464 | 2022 | Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia). | 2 |
| 35190588 | 2022 | Biomarker LEPRE1 induces pelitinib-specific drug responsiveness by regulating ABCG2 expression and tumor transition states in human leukemia and lung cancer. | 5 |
| 35327962 | 2022 | Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant. | 1 |
| 35859453 | 2022 | Cell Surface Accumulation of Intracellular Leucine Proline-Enriched Proteoglycan 1 Enhances Odontogenic Potential of Human Dental Pulp Stem Cells. | 0 |
| 33098264 | 2021 | A new case of osteogenesis imperfecta type VIII and retinal detachment. | 2 |
| 33737016 | 2021 | A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies. | 4 |
| 33098264 | 2021 | A new case of osteogenesis imperfecta type VIII and retinal detachment. | 2 |
| 33737016 | 2021 | A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies. | 4 |
| 32197005 | 2020 | Upregulated LEPRE1 correlates with poor outcome and its knockdown attenuates cells proliferation, migration and invasion in osteosarcoma. | 4 |
Citation
Dessen P
P3H1 (prolyl 3-hydroxylase 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/41140/p3h1-(prolyl-3-hydroxylase-1)
