HPD
entrez
3242
canonical
uniprot
P32754
canonical
ensembl
ENSG00000158104
resolver
ensp
ENSP00000289004
resolver
ensp
ENSP00000441677
resolver
genesymbol
HPD
resolver
genesymbol_syn
PPD
resolver
hgnc
HGNC:5147
resolver
uniprot
A0A0B4J1R4
resolver
uniprot
A8K461
resolver
uniprot
B3KQ63
resolver
uniprot
Q13234
resolver
uniprot_entry
HPPD_HUMAN
resolver
uniprot_sec
A0A0B4J1R4
resolver
uniprot_sec
A8K461
resolver
uniprot_sec
B3KQ63
resolver
uniprot_sec
Q13234
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by the drug 2-(2-nitro-4- trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC). {ECO:0000269|PubMed:37794595}.
uniprot
proteins
amino_acid_sequence
MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQATSFYCSKMGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNKEMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMREPWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGYEAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPINEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEELKILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGFGAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM
uniprot
proteins
disease_involvement
DISEASE: Tyrosinemia 3 (TYRSN3) [MIM:276710]: An autosomal recessive inborn error of metabolism characterized by high levels of tyrosine in the blood, massive excretion of its derivatives into urine, seizures and mild intellectual disability. {ECO:0000269|PubMed:10942115, ECO:0000269|PubMed:11073718}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hawkinsinuria (HWKS) [MIM:140350]: An autosomal dominat inborn error of tyrosine metabolism characterized by failure to thrive, transient metabolic acidosis, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine. {ECO:0000269|PubMed:17560158, ECO:0000269|PubMed:20677779, ECO:0000269|PubMed:26226126}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.13.11.27
uniprot
proteins
ec_number
2.1.1.348
uniprot
proteins
function
FUNCTION: Catalyzes the conversion of 4-hydroxyphenylpyruvic acid to homogentisic acid, one of the steps in tyrosine catabolism (PubMed:10942115, PubMed:1339442, PubMed:34047349, PubMed:37794595). In addition may act as a N6-methyltransferase that methylates adenosine residues at the N(6) position of some RNAs (PubMed:10942115). {ECO:0000269|PubMed:10942115, ECO:0000269|PubMed:1339442, ECO:0000269|PubMed:34047349, ECO:0000269|PubMed:37794595}.
uniprot
proteins
mass_dalton
44964
uniprot
proteins
mutagenesis
MUTAGEN 251; /note="Q->E: Abolishes 4-hydroxyphenylpyruvate dioxygenase activity."; /evidence="ECO:0000269|PubMed:34047349"; MUTAGEN 265; /note="Q->E: Abolishes 4-hydroxyphenylpyruvate dioxygenase activity."; /evidence="ECO:0000269|PubMed:34047349"; MUTAGEN 334; /note="Q->A,N: Reduces 4-hydroxyphenylpyruvate dioxygenase activity. 33-fold decrease in catalytic efficiency."; /evidence="ECO:0000269|PubMed:34047349"; MUTAGEN 363; /note="N->A,D,Q: Reduces 4-hydroxyphenylpyruvate dioxygenase activity. Decreases in substrate affinity."; /evidence="ECO:0000269|PubMed:34047349
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 3/6.
uniprot
proteins
protein_family
4HPPD family
uniprot
proteins
pubmed
10942115
uniprot
proteins
pubmed
11073718
uniprot
proteins
pubmed
1339442
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17560158
uniprot
proteins
pubmed
20677779
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26226126
uniprot
proteins
pubmed
34047349
uniprot
proteins
pubmed
37794595
uniprot
proteins
pubmed
41317403
uniprot
proteins
pubmed
7851880
uniprot
proteins
pubmed
8521727
uniprot
proteins
pubmed
9325050
uniprot
proteins
sequence_length
393
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:41317403}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P32755}; Peripheral membrane protein {ECO:0000250|UniProtKB:P32755}. Golgi apparatus membrane {ECO:0000250|UniProtKB:P32755}; Peripheral membrane protein {ECO:0000250|UniProtKB:P32755}. Nucleus {ECO:0000269|PubMed:41317403}.
uniprot
proteins