HPD - 4-hydroxyphenylpyruvate dioxygenase Gene

Homo sapiens

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

Gene ID: 3242 | Gene type: protein coding

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	Reference	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	Reference	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)	P32754-1 (M1-M393)	≥95%

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

Pre-clinical Phase

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-131183	PROTAC PD-1/PD-L1 degrader-1	Inhibitor	99.52%	Unkown
HY-P2478A	Human PD-L1 inhibitor V TFA	Inhibitor	/	Unkown
HY-P2477	Human PD-L1 inhibitor IV	Inhibitor	99.68%	Unkown
HY-135767	Bicyclopyrone	Inhibitor	/	Unkown
HY-P2474	Human PD-L1 inhibitor I		98.93%	Unkown
HY-P2478	Human PD-L1 inhibitor V	Inhibitor	99.04%	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-RS06335	HPD Human Pre-designed siRNA Set A	Pre-designed Sets	/	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
Macaca fascicularis	HPD	NCBI	NCBI:102132519
Others	HPD	NCBI

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