HPD - 4-hydroxyphenylpyruvate dioxygenase Gene

Also Known as PPD; 4HPPD; GLOD3; 4-HPPD; HPPDASE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3242

About HPD

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:121,839,527-121,888,611 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 6 phenotypes. Biased expression in liver (RPKM 441.7) and kidney (RPKM 174.9).

Summary

The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (Tyro3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

HPD Products (2)

mRNA	Protein	Name
NM_001171993.2	NP_001165464.1	4-hydroxyphenylpyruvate dioxygenase isoform 2
NM_002150.3	NP_002141.2	4-hydroxyphenylpyruvate dioxygenase isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables 4-hydroxyphenylpyruvate dioxygenase activity	IDA IDA: Inferred from direct assay	1339442	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	1339442	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within tyrosine catabolic process	IDA IDA: Inferred from direct assay	31537781	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HPD Protein Structure

Glyoxalase

0
100
200
300
393 a.a.

Protein Preferred Names	Protein Names
4-hydroxyphenylpyruvate dioxygenase	4-hydroxyphenylpyruvic acid oxidase

Recombinant HPD Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70024	HPD/HPPDase Protein, Human (His)	AAH24287.1 (M1-M393)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Tyrosinemia, Type Iii	Tyrosinemia Type Iii 4-Hydroxyphenylpyruvate Dioxygenase Deficiency TYRSN3 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Type 3 4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency 4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Due To 4-Hydroxyphenylpyruvate Dioxygenase Deficiency Tyrosinemia Due To 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Due To Hpd Deficiency Tyrosinemia 3
Hawkinsinuria	4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency 4-Hppd Deficiency 4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency HWKS HAWK
Tyrosinemia	Hypertyrosinemia Tyrosinemias Hereditary Tyrosinemia Hypertyrosinaemia Tyrosinaemia Hereditary Hypertyrosinemia
Tyrosinemia, Type I	Tyrosinemia Type I Hepatorenal Tyrosinemia Fumarylacetoacetase Deficiency Fah Deficiency TYRSN1 Fumarylacetoacetate Hydrolase Deficiency Tyrosinemia Type 1 Tyrosinemia 1 Fumarylacetoacetase
Alkaptonuria	Homogentisic Acid Oxidase Deficiency Alcaptonuria AKU Deficiency Of Homogentisicase Homogentisate 1,2-Dioxygenase Deficiency Alkaptonuric Ochronosis Homogentisic Acidura Ochronosis, Hereditary Hereditary Ochronosis Ochronosis Homogentisicaciduria Deficiency Of Homogentisate Oxygenase
Ochronosis
Spasticity
External Ear Carcinoma	Carcinoma Of External Ear Carcinoma Of The External Ear
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
Achilles Bursitis	Achilles Bursitis Or Tendinitis Capped Hock Haglund'S Deformity Haglund'S Disease Osteochondritis Of The Talus
Pentosuria	Xylitol Dehydrogenase Deficiency L-Xylulosuria L-Xylulose Reductase Deficiency Essential Pentosuria PNTSU Essential Benign Pentosuria
Suppurative Otitis Media	Otitis Media With Effusion - Purulent Purulent Otitis Media Otitis Media, Suppurative
Tyrosinemia, Type Ii	Tyrosinemia Type Ii Oculocutaneous Tyrosinemia Richner-Hanhart Syndrome Tyrosine Aminotransferase Deficiency Tat Deficiency Tyrosine Transaminase Deficiency Keratosis Palmoplantaris With Corneal Dystrophy TYRSN2 Oregon Type Tyrosinemia Tyrosinemia Type 2 Tyrosinosis Oculocutaneous Type Tyrosinosis, Oculocutaneous Type Richner Hanhart Syndrome Keratosis Palmoplantaris-Corneal Dystrophy Syndrome Tyrosinemia Due To Tat Deficiency Tyrosinemia Due To Tyrosine Aminotransferase Deficiency Tyrosinemia 2 Tyrosinemia Oregon Type Tyrosine Transaminase Deficiency Disease
Postmenopausal Atrophic Vaginitis	Atrophic Vaginitis Senile Vaginitis Senile Atrophic Vaginitis Atrophy Of Vagina Vaginal Atrophy
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99709	Lodapolimab	Inhibitor	99.71%	Phase 1

Pre-clinical Phase

Bioactive Molecules (20)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W010040	4-Hydroxyphenylpyruvic acid		98.63%	Unkown
HY-W087027	Maleimide-NOTA		99.69%	Unkown
HY-13495	ML281		98.04%	Unkown
HY-131183	PROTAC PD-1/PD-L1 degrader-1	Inhibitor	99.52%	Unkown
HY-135767	Bicyclopyrone	Inhibitor	99.95%	Unkown
HY-W010040R	4-Hydroxyphenylpyruvic acid (Standard)		96.44%	Unkown
HY-174830	GJ19	Inhibitor	98.02%	Unkown
HY-P2477	Human PD-L1 inhibitor IV	Inhibitor	99.92%	Unkown
HY-P2478	Human PD-L1 inhibitor V	Inhibitor	98.70%	Unkown
HY-P2474	Human PD-L1 inhibitor I		99.22%	Unkown
HY-P2478A	Human PD-L1 inhibitor V TFA	Inhibitor	/	Unkown
HY-130625	PD-1/PD-L1-IN 6	Inhibitor	/	Unkown
HY-155740	PD-1/PD-L1-IN-32	Inhibitor	/	Unkown
HY-168080	PD-1/PD-L1-IN-51	Inhibitor	/	Unkown
HY-175294	PD-L1/Nampt-IN-1	Inhibitor	/	Unkown
HY-184989	PD-L1-IN-12		/	Unkown
HY-187712	PD-1/PD-L1-IN-68	Inhibitor	/	Unkown
HY-RS06335	HPD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17066	Hpd Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23510	Hpd Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HPD	RGD	RGD:61974
Macaca mulatta	HPD	VGNC	VGNC:73511
Felis catus	HPD	VGNC	VGNC:67637
Bos taurus	HPD	VGNC	VGNC:29939
Mus musculus	HPD	MGD	MGI:96213
Canis familiaris	HPD	VGNC	VGNC:41770
Others	HPD	NCBI