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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 (4-Hydroxyphenylpyruvate Dioxygenase) is a Protein Coding gene. Diseases associated with HPD include Tyrosinemia, Type Iii and Hawkinsinuria. Among its related pathways are Tyrosine metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on single donors with incorporation of molecular oxygen and 4-hydroxyphenylpyruvate dioxygenase activity. An important paralog of this gene is HPDL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003868 | 4-hydroxyphenylpyruvate dioxygenase activity | IBA,ISS | -- |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016701 | oxidoreductase activity, acting on single donors with incorporation of molecular oxygen | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO:0051213 | dioxygenase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IBA | 21873635 |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism | ||
2 | Metabolism |
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3 | Tyrosine metabolism | ||
4 | Ubiquinol biosynthesis | ||
5 | Viral mRNA Translation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006559 | L-phenylalanine catabolic process | TAS | -- |
GO:0006572 | tyrosine catabolic process | TAS,ISS | -- |
GO:0009072 | aromatic amino acid family metabolic process | IEA | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Nitisinone | Approved, Investigational | Pharma | Target, inhibitor | 16 | ||
Oxygen | Approved, Vet_approved | Pharma | 0 | |||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
Iron | Approved, Experimental | Pharma | 1560 | |||
2-{HYDROXY[2-NITRO-4-(TRIFLUOROMETHYL)PHENYL]METHYLENE}CYCLOHEXANE-1,3-DIONE | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Ortho-Hydroxyphenylacetic acid |
|
614-75-5 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HPD 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HPD 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HPD 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hpd 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hpd 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HPD 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HPD 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HPD 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HPD 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hpd 30 |
|
||
Str.8493 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68535 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hpdb 30 31 |
|
OneToOne | |
zgc56326 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8483 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG11796 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004802 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | T21C12.2 32 |
|
|
|
hpd-1 30 31 |
|
OneToOne | |||
C31H2.4 32 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PDS1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0168100 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7220 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU01830 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10805 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638895 | Uncertain Significance: Hawkinsinuria; Tyrosinemia type 3 | 121,839,790(-) | C/T | MISSENSE_VARIANT | |
638896 | Uncertain Significance: Hawkinsinuria; Tyrosinemia type 3 | 121,857,422(-) | A/G | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
642856 | Pathogenic: Hawkinsinuria; Tyrosinemia type 3 | 121,857,367(-) | A/AC | FRAMESHIFT_VARIANT | |
712611 | Likely Benign: not provided | 121,843,766(-) | G/T | SYNONYMOUS_VARIANT | |
719449 | Likely Benign: Hawkinsinuria; Tyrosinemia type 3 | 121,840,055(-) | G/C | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv322e199 | CNV | deletion | 23128226 |
dgv883n106 | CNV | deletion | 24896259 |
esv1346224 | CNV | deletion | 17803354 |
esv2164211 | CNV | deletion | 18987734 |
esv2433173 | CNV | deletion | 19546169 |
esv2746496 | CNV | deletion | 23290073 |
esv3549898 | CNV | deletion | 23714750 |
esv3549901 | CNV | deletion | 23714750 |
esv3630960 | CNV | loss | 21293372 |
esv3892268 | CNV | loss | 25118596 |
nsv1070135 | CNV | deletion | 25765185 |
nsv1127299 | CNV | deletion | 24896259 |
nsv1145887 | CNV | deletion | 26484159 |
nsv1160065 | CNV | deletion | 26073780 |
nsv472039 | CNV | novel sequence insertion | 20440878 |
nsv911 | CNV | deletion | 18451855 |
nsv912 | CNV | insertion | 18451855 |
nsv957277 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
tyrosinemia, type iii |
|
|
hawkinsinuria |
|
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tyrosinemia |
|
|
tyrosinemia, type i |
|
|
alkaptonuria |
|
|