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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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P3H3
prolyl 3-hydroxylase 3
Chromosome 12 · 12p13.31
NCBI Gene: 10536Ensembl: ENSG00000110811.21HGNC: HGNC:19318UniProt: Q8IVL6
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of cell population proliferationendoplasmic reticulumcatalytic complexcollagen biosynthetic processCOVID-19severe acute respiratory syndromeosteoarthritis, kneeAdult-onset autosomal recessive sideroblastic anemia
✦AI Summary

P3H3 (prolyl 3-hydroxylase 3) is a collagen-modifying enzyme that catalyzes hydroxylation of lysine residues in collagen alpha chains as part of a complex with PLOD1 and P3H4 1. P3H3 is particularly critical for lysine hydroxylation at collagen cross-linking sites in skin, bone, tendon, aorta, and cornea, though it appears to function redundantly with other prolyl 3-hydroxylases for prolyl 3-hydroxylation 2. Deficiency in P3H3 causes collagen lysine under-hydroxylation and abnormal cross-linking chemistry similar to Ehlers-Danlos syndrome type VIA 1. Beyond structural collagen biology, P3H3 functions as a tumor suppressor: its expression is downregulated in multiple cancer types through DNA methylation 34. In lung cancer, higher P3H3 expression correlates with lower tumor stage and grade, while ectopic expression inhibits cell proliferation, migration, and invasion while inducing apoptosis 4. In cervical cancer, P3H3 regulation by ZNF334 reverses epithelial-mesenchymal transition and enhances chemotherapy sensitivity 5. P3H3 also emerged as a diagnostic biomarker in dilated cardiomyopathy associated with cuproptosis pathways 6. Recent evidence suggests P3H3 activity can be modulated pharmacologically; dextromethorphan increases P3H3 thermal stability and activity, promoting collagen hyperhydroxylation and secretion inhibition to ameliorate lung fibrosis 7.

Sources cited
1
P3H3 is required for lysine hydroxylation at collagen cross-linking sites in skin, bone, tendon, aorta, and cornea; P3h3-null mice phenocopy collagen lysine under-hydroxylation abnormalities similar to EDS VIA
PMID: 28115524
2
P3H3 is involved in lysyl hydroxylation of collagen, particularly at cross-link formation sites, with distinct mechanisms from LH1 for different collagen types
PMID: 33631195
3
P3H3 expression is downregulated in breast cancer through CpG methylation; ectopic P3H3 expression suppresses colony growth, representing a novel tumor suppressor
PMID: 19436308
4
P3H3 is downregulated in lung cancer; higher P3H3 expression correlates with lower tumor N stage and grade; P3H3 ectopic expression inhibits proliferation, migration, invasion and induces apoptosis
PMID: 29277505
5
P3H3 is upregulated by ZNF334 transcription factor in cervical cancer; P3H3 knockdown attenuates EMT reversal induced by ZNF334
PMID: 38954116
6
P3H3 identified as a diagnostic biomarker gene in dilated cardiomyopathy associated with cuproptosis and immune infiltration
PMID: 38168558
7
Dextromethorphan increases thermal stability of P3H3, promoting collagen hyperhydroxylation and secretion inhibition to ameliorate lung fibrosis
PMID: 39693409
Disease Associationsⓘ20
COVID-19Open Targets
0.26Weak
severe acute respiratory syndromeOpen Targets
0.23Weak
osteoarthritis, kneeOpen Targets
0.09Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.07Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
IRIDA syndromeOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
familial pseudohyperkalemiaOpen Targets
0.04Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.04Suggestive
Blackfan-Diamond anemiaOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
monosomy 7 myelodysplasia and leukemia syndrome 1Open Targets
0.04Suggestive
delta-beta-thalassemiaOpen Targets
0.04Suggestive
hereditary elliptocytosisOpen Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
overhydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DCNProtein interaction96%RMDN3Protein interaction84%CENPBProtein interaction72%DHRS2Protein interaction71%P3H1Protein interaction55%P3H2Shared pathway38%
Tissue Expression6 tissues
Ovary
100%
Heart
59%
Lung
22%
Bone Marrow
13%
Brain
9%
Liver
7%
Gene Interaction Network
Click a node to explore
P3H3DCNRMDN3CENPBDHRS2P3H1P3H2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IVL6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.23LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.82–1.23]
RankingsWhere P3H3 stands among ~20K protein-coding genes
  • #11,765of 20,598
    Most Researched31
  • #12,972of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedP3H3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dextromethorphan inhibits collagen and collagen-like cargo secretion to ameliorate lung fibrosis.
PMID: 39693409
Sci Transl Med · 2024
1.00
2
Collagen prolyl hydroxylase 3 has a tumor suppressive activity in human lung cancer.
PMID: 29277505
Exp Cell Res · 2018
0.90
3
Role of ZNF334 in cervical cancer: implications for EMT reversal and tumor suppression.
PMID: 38954116
Med Oncol · 2024
0.80
4
P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA.
PMID: 28115524
J Biol Chem · 2017
0.70
5
Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.
PMID: 33631195
J Biol Chem · 2021
0.60