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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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P4HA1
prolyl 4-hydroxylase subunit alpha 1
Chromosome 10 · 10q22.1
NCBI Gene: 5033Ensembl: ENSG00000122884.14HGNC: HGNC:8546UniProt: P13674
159PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingmembraneprotein bindingendoplasmic reticulumneurodegenerative diseasedengue diseaseParkinson diseaselumbar disc degeneration
✦AI Summary

P4HA1 encodes the alpha-1 subunit of prolyl 4-hydroxylase, an enzyme that catalyzes the post-translational hydroxylation of proline residues in collagen and other proteins, which is essential for collagen stability 1. The enzyme functions as part of an α2β2 tetramer in the endoplasmic reticulum, where it modifies -Xaa-Pro-Gly- sequences to form 4-hydroxyproline 1. Beyond its classical role in collagen synthesis, P4HA1 has emerged as a critical regulator in cancer biology through multiple mechanisms. In glioblastoma, P4HA1 increases succinate production, leading to enhanced succinylation of PGK1 and promoting aerobic glycolysis 2. P4HA1 also disrupts CD8+ T cell function by accumulating in mitochondria and altering the TCA cycle, promoting T cell exhaustion and immune escape 3. The gene is highly upregulated in various cancers including osteosarcoma and colorectal cancer, where it promotes tumor progression and serves as a negative prognostic factor 456. Targeting P4HA1 shows therapeutic promise, as its inhibition enhances anti-tumor immunity, increases sensitivity to cuproptosis inducers, and can be blocked by drugs like dextromethorphan to reduce fibrosis 357. These findings position P4HA1 as both a key metabolic regulator and potential therapeutic target in cancer treatment.

Sources cited
1
P4HA1 encodes prolyl 4-hydroxylase alpha subunit that hydroxylates proline residues in collagen for stability
PMID: 34009234
2
P4HA1 increases succinate production and promotes aerobic glycolysis through PGK1 succinylation in glioblastoma
PMID: 38441561
3
P4HA1 disrupts CD8+ T cell function by accumulating in mitochondria and altering TCA cycle metabolism
PMID: 39729997
4
P4HA1 is upregulated in osteosarcoma and serves as a negative prognostic factor
PMID: 37055822
5
P4HA1 promotes colorectal cancer progression and targeting it enhances cuproptosis sensitivity
PMID: 39738206
6
P4HA1 promotes osteosarcoma cell proliferation in a glycolysis-dependent manner
PMID: 40023306
7
P4HA1 activity can be modulated by dextromethorphan to reduce collagen secretion and fibrosis
PMID: 39693409
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.41Moderate
dengue diseaseOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.28Weak
lumbar disc degenerationOpen Targets
0.27Weak
neoplasmOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Weak
head and neck squamous cell carcinomaOpen Targets
0.10Suggestive
glioblastoma multiformeOpen Targets
0.10Suggestive
gliomaOpen Targets
0.09Suggestive
prostate cancerOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.07Suggestive
esophageal cancerOpen Targets
0.06Suggestive
posterior cortical atrophyOpen Targets
0.05Suggestive
Pathogenic Variants1
NM_001017962.3(P4HA1):c.1148+1030C>TLikely pathogenic
Congenital disorder of connective tissue
★☆☆☆
View on ClinVar ↗
Related Genes
DPTShared pathway100%FMODShared pathway100%LOXL4Shared pathway100%COLGALT1Shared pathway100%COLGALT2Shared pathway100%PYCR1Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Liver
88%
Lung
83%
Ovary
80%
Brain
56%
Bone Marrow
26%
Gene Interaction Network
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P4HA1DPTFMODLOXL4COLGALT1COLGALT2PYCR1
PROTEIN STRUCTURE
Preparing viewer…
PDB4BT9 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.43Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.14 [0.06–0.43]
RankingsWhere P4HA1 stands among ~20K protein-coding genes
  • #2,832of 20,598
    Most Researched159 · top quartile
  • #4,767of 5,498
    Most Pathogenic Variants1
  • #2,301of 17,882
    Most Constrained (LOEUF)0.43 · top quartile
Genes detectedP4HA1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
HIF1α/ATF3 partake in PGK1 K191/K192 succinylation by modulating P4HA1/succinate signaling in glioblastoma.
PMID: 38441561
Neuro Oncol · 2024
1.00
2
Targeting P4HA1 promotes CD8
PMID: 39729997
Cancer Cell · 2025
0.90
3
A tumor microenvironment-based prognostic index for osteosarcoma.
PMID: 37055822
J Biomed Sci · 2023
0.80
4
P4HA2 induces hepatic ductular reaction and biliary fibrosis in chronic cholestatic liver diseases.
PMID: 36799463
Hepatology · 2023
0.70
5
P4HA1 mediates YAP hydroxylation and accelerates collagen synthesis in temozolomide-resistant glioblastoma.
PMID: 40484999
Chin Med J (Engl) · 2025
0.64