Name | prolyl 3-hydroxylase 1 |
Description | This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011] |
Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nProlyl 3‐hydroxylase 1 (P3H1), encoded by the LEPRE1 gene, is a key endoplasmic reticulum (ER) enzyme that catalyzes the 3‐hydroxylation of specific proline residues—most notably Pro986—in the α‐chains of fibrillar collagens. In this capacity, P3H1 assembles with cartilage‐associated protein (CRTAP) and cyclophilin B to form a collagen prolyl 3‐hydroxylation complex. This complex not only carries out a critical posttranslational modification required for proper collagen triple‐helix folding but also appears to contribute chaperone functions during collagen biosynthesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n\n"}]}, {"type": "t", "text": "\n"}, {"type": "p", "children": [{"type": "t", "text": "\nLoss‐of‐function mutations in LEPRE1 disrupt P3H1 expression or impair its enzymatic activity, leading to deficient 3‐hydroxylation. This in turn delays collagen polypeptide folding and causes excessive overmodification by other hydroxylases. Such molecular defects are central to the pathogenesis of recessive osteogenesis imperfecta—often manifesting as severe skeletal fragility and, in many cases, a lethal phenotype. Restoration experiments indicate that P3H1 and CRTAP are mutually stabilizing components of the complex, emphasizing that their coordinated function is essential for normal collagen maturation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "17"}]}, {"type": "t", "text": "\n\n"}]}, {"type": "t", "text": "\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its canonical role in collagen posttranslational modification, P3H1 contains distinct domains—including a 2‐oxoglutarate–dependent dioxygenase region and a conserved carboxyl‐terminal KDEL sequence crucial for ER retention—that are vital for its enzymatic function. Moreover, the presence of CXXXC motifs in its amino‐terminal region has raised the possibility that it may exert oxidoreductase activity akin to protein disulfide isomerase, assisting in disulfide bond formation. Recent studies also implicate LEPRE1/P3H1 in non‐collagenous contexts such as modulation of tumor cell signaling and the regulation of odontoblastic differentiation, suggesting that its functional repertoire may extend to influencing cell differentiation and tumorigenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "18", "end_ref": "20"}]}, {"type": "t", "text": "\n\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Dustin Baldridge, Ulrike Schwarze, Roy Morello, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddn374"}], "href": "https://doi.org/10.1093/hmg/ddn374"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18996919"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18996919"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "A Willaert, F Malfait, S Symoens, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2008.062729"}], "href": "https://doi.org/10.1136/jmg.2008.062729"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19088120"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19088120"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Joan C Marini, Wayne A Cabral, Aileen M Barnes "}, {"type": "b", "children": [{"type": "t", "text": "Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Tissue Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00441-009-0872-0"}], "href": "https://doi.org/10.1007/s00441-009-0872-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19862557"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19862557"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Masaki Takagi, Tomohiro Ishii, Aileen M Barnes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0036809"}], "href": "https://doi.org/10.1371/journal.pone.0036809"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22615817"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22615817"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Weizhong Chang, Aileen M Barnes, Wayne A Cabral, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddp481"}], "href": "https://doi.org/10.1093/hmg/ddp481"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19846465"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19846465"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Fleur S van Dijk, Peter G J Nikkels, Nicolette S den Hollander, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Dev Pathol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2350/10-03-0806-CR.1"}], "href": "https://doi.org/10.2350/10-03-0806-CR.1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20946018"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20946018"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Zhen-Lin Zhang, Hao Zhang, Yao-hua Ke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Bone Miner Metab (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00774-011-0284-6"}], "href": "https://doi.org/10.1007/s00774-011-0284-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21667357"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21667357"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Wayne A Cabral, Aileen M Barnes, Adebowale Adeyemo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/gim.2011.44"}], "href": "https://doi.org/10.1038/gim.2011.44"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22281939"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22281939"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Yoshihiro Ishikawa, Hans Peter Bächinger "}, {"type": "b", "children": [{"type": "t", "text": "An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1·cartilage-associated protein·cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M113.498063"}], "href": "https://doi.org/10.1074/jbc.M113.498063"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24043621"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24043621"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "C Barbirato, M Trancozo, M G Almeida, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Upregulated LEPRE1 correlates with poor outcome and its knockdown attenuates cells proliferation, migration and invasion in osteosarcoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Anticancer Drugs (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/CAD.0000000000000851"}], "href": "https://doi.org/10.1097/CAD.0000000000000851"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32197005"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32197005"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "A-Ram Lee, Sunho Lee, Jee Yoon Shin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biomarker LEPRE1 induces pelitinib-specific drug responsiveness by regulating ABCG2 expression and tumor transition states in human leukemia and lung cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-022-06621-w"}], "href": "https://doi.org/10.1038/s41598-022-06621-w"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35190588"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35190588"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Kyung-Jung Kang, Min-Jeong Choi, Tae-Jun Min, et al. 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Synonyms | GROS1, OI8, LEPRE1 |
Proteins | P3H1_HUMAN |
NCBI Gene ID | 64175 |
API | |
Download Associations | |
Predicted Functions |
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Co-expressed Genes |
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Expression in Tissues and Cell Lines |
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P3H1 has 6,707 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 118 datasets.
Click the + buttons to view associations for P3H1 from the datasets below.
If available, associations are ranked by standardized value
Dataset | Summary | |
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Achilles Cell Line Gene Essentiality Profiles | cell lines with fitness changed by P3H1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset. | |
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of P3H1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of P3H1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of P3H1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of P3H1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of P3H1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of P3H1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of P3H1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of P3H1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of P3H1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of P3H1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CCLE Cell Line Proteomics | Cell lines associated with P3H1 protein from the CCLE Cell Line Proteomics dataset. | |
CellMarker Gene-Cell Type Associations | cell types associated with P3H1 gene from the CellMarker Gene-Cell Type Associations dataset. | |
ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of P3H1 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of P3H1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of P3H1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
ClinVar Gene-Phenotype Associations | phenotypes associated with P3H1 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of P3H1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing P3H1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing P3H1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores | cellular components containing P3H1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing P3H1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with P3H1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with P3H1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of P3H1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with P3H1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Disease Associations | diseases associated with P3H1 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by P3H1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving P3H1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving P3H1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with P3H1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with P3H1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DisGeNET Gene-Disease Associations | diseases associated with P3H1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with P3H1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
DrugBank Drug Targets | interacting drugs for P3H1 protein from the curated DrugBank Drug Targets dataset. | |
ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at P3H1 gene from the ENCODE Histone Modification Site Profiles dataset. | |
ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of P3H1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of P3H1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing P3H1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of P3H1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with P3H1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing P3H1 from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of P3H1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of P3H1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of P3H1 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of P3H1 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of P3H1 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of P3H1 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GlyGen Glycosylated Proteins | ligands (chemical) binding P3H1 protein from the GlyGen Glycosylated Proteins dataset. | |
GO Biological Process Annotations 2015 | biological processes involving P3H1 gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving P3H1 gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Biological Process Annotations 2025 | biological processes involving P3H1 gene from the curated GO Biological Process Annotations2025 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing P3H1 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2023 | cellular components containing P3H1 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
GO Cellular Component Annotations 2025 | cellular components containing P3H1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by P3H1 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GO Molecular Function Annotations 2023 | molecular functions performed by P3H1 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
GO Molecular Function Annotations 2025 | molecular functions performed by P3H1 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
GTEx eQTL 2025 | SNPs regulating expression of P3H1 gene from the GTEx eQTL 2025 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of P3H1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of P3H1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of P3H1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of P3H1 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
HMDB Metabolites of Enzymes | interacting metabolites for P3H1 protein from the curated HMDB Metabolites of Enzymes dataset. | |
HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of P3H1 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
HPA Tissue Gene Expression Profiles | tissues with high or low expression of P3H1 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
HPA Tissue Protein Expression Profiles | tissues with high or low expression of P3H1 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of P3H1 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
HPO Gene-Disease Associations | phenotypes associated with P3H1 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
Hub Proteins Protein-Protein Interactions | interacting hub proteins for P3H1 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with P3H1 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by P3H1 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for P3H1 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of P3H1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate P3H1 protein from the Kinase Library Serine Threonine Atlas dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of P3H1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of P3H1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with P3H1 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of P3H1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of P3H1 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of P3H1 gene from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain P3H1 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by P3H1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
MiRTarBase microRNA Targets | microRNAs targeting P3H1 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of P3H1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of P3H1 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of P3H1 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
NURSA Protein Complexes | protein complexs containing P3H1 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
NURSA Protein-Protein Interactions | interacting proteins for P3H1 from the NURSA Protein-Protein Interactions dataset. | |
OMIM Gene-Disease Associations | phenotypes associated with P3H1 gene from the curated OMIM Gene-Disease Associations dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for P3H1 from the Pathway Commons Protein-Protein Interactions dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of P3H1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of P3H1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving P3H1 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving P3H1 protein from the Wikipathways PFOCR 2024 dataset. | |
ProteomicsDB Cell Type and Tissue Protein Expression Profiles | cell types and tissues with high or low expression of P3H1 protein relative to other cell types and tissues from the ProteomicsDB Cell Type and Tissue Protein Expression Profiles dataset. | |
Reactome Pathways 2014 | pathways involving P3H1 protein from the Reactome Pathways dataset. | |
Reactome Pathways 2024 | pathways involving P3H1 protein from the Reactome Pathways 2024 dataset. | |
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of P3H1 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of P3H1 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of P3H1 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of P3H1 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of P3H1 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at P3H1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of P3H1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of P3H1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with P3H1 protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of P3H1 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of P3H1 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of P3H1 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of P3H1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of P3H1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of P3H1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of P3H1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of P3H1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with P3H1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with P3H1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
WikiPathways Pathways 2024 | pathways involving P3H1 protein from the WikiPathways Pathways 2024 dataset. | |