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MGP001492

Record overview

MGPD IDMGP001492
Gene ID3242
SpeciesHomo sapiens (Human)
Gene Name4-hydroxyphenylpyruvate dioxygenase
Gene Symbol HPD
SynonymsPPD; 4HPPD; GLOD3; 4-HPPD; HPPDASE;
Alternate names4-hydroxyphenylpyruvate dioxygenase; 4-hydroxyphenylpyruvic acid oxidase; glyoxalase domain containing 3;
Chromosome12
Map Location12q24.31
EC Number1.13.11.27
SummaryThe 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]
OrthologsView orthologs and multiple alignments for HPD

Proteins

4-hydroxyphenylpyruvate dioxygenase isoform 1
Refseq ID:NP_002141
Protein GI:4504477
UniProt ID:P32754
mRNA ID:NM_002150
Length:393
RefSeq Status:
MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQAASFYCSKMGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNKEMGDHLVKHGDGVKDIAFEV
EDCDYIVQKARERGAKIMREPWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGYEAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEWY
LKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPINEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLR
EKLKTAKIKVKENIDALEELKILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGFGAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM
 
4-hydroxyphenylpyruvate dioxygenase isoform 2
Refseq ID:NP_001165464
Protein GI:285002264
UniProt ID:P32754
mRNA ID:NM_001171993
Length:354
RefSeq Status:
MGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNKEMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMREPWVEQDKFGKVKFAVLQTY
GDTTHTLVEKMNYIGQFLPGYEAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMP
INEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEELKILVDYDEKGYLLQIFTKP
VQDRPTLFLEVIQRHNHQGFGAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM
 
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