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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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HPD
4-hydroxyphenylpyruvate dioxygenase
Chromosome 12 Β· 12q24.31
NCBI Gene: 3242Ensembl: ENSG00000158104.12HGNC: HGNC:5147UniProt: P32754
36PubMed Papers
22Diseases
1Drugs
41Pathogenic Variants
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleus4-hydroxyphenylpyruvate dioxygenase activityL-tyrosine catabolic processcytoplasmTyrosinemia type 3tyrosinemia type IIIhawkinsinuriatyrosinemia
✦AI Summary

HPD (4-hydroxyphenylpyruvate dioxygenase) is a metabolic enzyme catalyzing conversion of 4-hydroxyphenylpyruvic acid to homogentisic acid in tyrosine catabolism, with highest expression in liver tissue 1. The gene spans approximately 21 kb of genomic DNA organized into 14 exons and 13 introns, with transcriptional regulation involving cyclic adenosine monophosphate signaling 1. Beyond its canonical metabolic function, HPD possesses an unexpected moonlighting role as an RNA-binding protein (RBP) containing two dsRNA-binding domains (RBDs) 2. Through RRACH motif recognition, HPD promotes translation of glycolytic enzymes including triosephosphate isomerase (TPI) and alpha-enolase (ENO1), thereby sustaining ovarian cancer glycolysis, tumor growth, and chemotherapy resistance 2. Clinically, loss-of-function mutations in HPD cause rare inherited disorders: hawkinsinuria and tyrosinemia type 3. The discovery of HPD's RBP function represents a paradigm shift in understanding its role in cancer pathogenesis, as targeting the RBD domain disrupts both RNA binding and glycolytic flux, offering potential therapeutic strategies 2. This dual enzymatic-RNA binding functionality expands the functional repertoire of metabolic proteins in cancer biology beyond traditional metabolic roles.

Sources cited
1
HPD gene structure (14 exons, 13 introns), promoter regulatory elements, and highest expression in liver tissue
PMID: 9325050
2
HPD functions as RNA-binding protein with dsRNA binding domains, promotes glycolytic enzyme translation, and mediates ovarian cancer glycolysis and drug resistance
PMID: 40491422
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
Tyrosinemia type 3Open Targets
0.81Strong
tyrosinemia type IIIOpen Targets
0.81Strong
hawkinsinuriaOpen Targets
0.77Strong
tyrosinemiaOpen Targets
0.62Moderate
alkaptonuriaOpen Targets
0.32Weak
HypertyrosinemiaOpen Targets
0.29Weak
liver diseaseOpen Targets
0.26Weak
Abnormal cerebral white matter morphologyOpen Targets
0.26Weak
Global developmental delayOpen Targets
0.26Weak
HypokinesiaOpen Targets
0.26Weak
Limb dystoniaOpen Targets
0.26Weak
SpasticityOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
Townes-Brocks syndromeOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
tuberculosisOpen Targets
0.08Suggestive
clear cell renal carcinomaOpen Targets
0.07Suggestive
sarcoidosisOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
pulmonary tuberculosisOpen Targets
0.06Suggestive
HawkinsinuriaUniProt
Tyrosinemia 3UniProt
Pathogenic Variants41
NM_002150.3(HPD):c.75G>A (p.Trp25Ter)Pathogenic
Hawkinsinuria;Tyrosinemia type III|Tyrosinemia type III|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 25
NM_002150.3(HPD):c.479A>G (p.Tyr160Cys)Likely pathogenic
Tyrosinemia type III|Hawkinsinuria;Tyrosinemia type III|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 160
NM_002150.3(HPD):c.673C>T (p.Arg225Ter)Pathogenic
Hawkinsinuria;Tyrosinemia type III
β˜…β˜…β˜†β˜†2025β†’ Residue 225
NM_002150.3(HPD):c.93+1G>ALikely pathogenic
Hawkinsinuria|Hawkinsinuria;Tyrosinemia type III
β˜…β˜…β˜†β˜†2024
NM_002150.3(HPD):c.43C>T (p.Arg15Ter)Pathogenic
Hawkinsinuria;Tyrosinemia type III
β˜…β˜…β˜†β˜†2024β†’ Residue 15
NM_002150.3(HPD):c.613C>T (p.Gln205Ter)Pathogenic
Tyrosinemia type III;Hawkinsinuria
β˜…β˜…β˜†β˜†2024β†’ Residue 205
NM_002150.3(HPD):c.248del (p.Gly83fs)Pathogenic
Tyrosinemia type III|Hawkinsinuria;Tyrosinemia type III
β˜…β˜…β˜†β˜†2023β†’ Residue 83
NM_002150.3(HPD):c.850_853del (p.Arg284fs)Pathogenic
Hawkinsinuria;Tyrosinemia type III
β˜…β˜†β˜†β˜†2025β†’ Residue 284
NM_002150.3(HPD):c.442dup (p.Glu148fs)Pathogenic
Tyrosinemia type III
β˜…β˜†β˜†β˜†2024β†’ Residue 148
NM_002150.3(HPD):c.274G>T (p.Gly92Ter)Pathogenic
Tyrosinemia type III;Hawkinsinuria
β˜…β˜†β˜†β˜†2024β†’ Residue 92
NM_002150.3(HPD):c.597-1G>CLikely pathogenic
Hawkinsinuria;Tyrosinemia type III
β˜…β˜†β˜†β˜†2024
NM_002150.3(HPD):c.415-1G>TLikely pathogenic
Hawkinsinuria;Tyrosinemia type III
β˜…β˜†β˜†β˜†2024
NM_002150.3(HPD):c.535del (p.Glu179fs)Pathogenic
Tyrosinemia type III;Hawkinsinuria
β˜…β˜†β˜†β˜†2024β†’ Residue 179
NM_002150.3(HPD):c.852_853del (p.Gly285fs)Pathogenic
Tyrosinemia type III;Hawkinsinuria
β˜…β˜†β˜†β˜†2024β†’ Residue 285
NM_002150.3(HPD):c.65_66del (p.Val22fs)Pathogenic
Tyrosinemia type III;Hawkinsinuria
β˜…β˜†β˜†β˜†2024β†’ Residue 22
NM_002150.3(HPD):c.852_853dup (p.Gly285fs)Pathogenic
Hawkinsinuria;Tyrosinemia type III
β˜…β˜†β˜†β˜†2024β†’ Residue 285
NM_002150.3(HPD):c.715_724del (p.Pro239fs)Pathogenic
Hawkinsinuria;Tyrosinemia type III
β˜…β˜†β˜†β˜†2024β†’ Residue 239
NM_002150.3(HPD):c.31-1G>ALikely pathogenic
Hawkinsinuria;Tyrosinemia type III
β˜…β˜†β˜†β˜†2023
NM_002150.3(HPD):c.204_205del (p.Phe69fs)Pathogenic
Hawkinsinuria;Tyrosinemia type III
β˜…β˜†β˜†β˜†2023β†’ Residue 69
NM_002150.3(HPD):c.256del (p.Leu86fs)Pathogenic
Hawkinsinuria;Tyrosinemia type III
β˜…β˜†β˜†β˜†2023β†’ Residue 86
View on ClinVar β†—
Drug Targets1
NITISINONEApproved
4-hydroxyphenylpyruvate dioxygenase inhibitor
Related Genes
FAHProtein interaction100%PCProtein interaction93%GOT1Protein interaction91%GOT2Protein interaction91%MIFProtein interaction91%GOT1L1Protein interaction91%
Tissue Expression6 tissues
Liver
100%
Ovary
0%
Lung
0%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HPDFAHPCGOT1GOT2MIFGOT1L1
PROTEIN STRUCTURE
Preparing viewer…
PDB3ISQ Β· 1.75 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.49–0.84]
RankingsWhere HPD stands among ~20K protein-coding genes
  • #10,794of 20,598
    Most Researched36
  • #1,014of 1,025
    FDA-Approved Drug Targets1
  • #1,524of 5,498
    Most Pathogenic Variants41
  • #7,296of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedHPD
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A High Protein Calorie Restriction Diet Alters the Gut Microbiome in Obesity.
PMID: 33096810
Nutrients Β· 2020
1.00
2
Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD).
PMID: 9325050
Genomics Β· 1997
0.90
3
Photosensitizers in dermatology.
PMID: 2956620
Photochem Photobiol Β· 1987
0.80
4
Incidence of immunotherapy-related hyperprogressive disease (HPD) across HPD definitions and cancer types in observational studies: A systematic review and meta-analysis.
PMID: 38400685
Cancer Med Β· 2024
0.70
5
CSF biomarkers for prion diseases.
PMID: 35176437
Neurochem Int Β· 2022
0.60