Property Summary

NCBI Gene PubMed Count 17
Grant Count 10
R01 Count 5
Funding $677,554.83
PubMed Score 454.30
PubTator Score 94.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
nephrosclerosis -2.596 0.017
malignant mesothelioma -2.100 0.000
osteosarcoma -1.107 0.005
posterior fossa group A ependymoma 1.500 0.000
atypical teratoid / rhabdoid tumor 1.500 0.004

 GWAS Trait (1)

Gene RIF (3)

PMID Text
26226126 4-hydroxyphenylpyruvate dioxygenase gene mutation is associated with Hawkinsinuria.
23950902 Glutamine375 has a critical role for 4-HPPD in orientating the tail and ensuring the conformation of the terminal alpha-helix of the enzyme to maintain the integrity of the active site for biocatalysis.
17560158 The IIe335Met allele is equivalent to a null mutation while the Asn241Ser allele results in a partially active enzyme with an uncoupled turnover causing elevated haykinin in urine.

AA Sequence

MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQAASFYCSKMGFEPLAYRGLETGSREVVSHVIKQGKIVFV      1 - 70
LSSALNPWNKEMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMREPWVEQDKFGKVKFAVLQTYG     71 - 140
DTTHTLVEKMNYIGQFLPGYEAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEWYLKNLQFHRFW    141 - 210
SVDDTQVHTEYSSLRSIVVANYEESIKMPINEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRH    211 - 280
LRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEELKILVDYDEKGYLLQIFTKPVQDRPTLFLEV    281 - 350
IQRHNHQGFGAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM                               351 - 393
//

Text Mined References (21)

PMID Year Title
26226126 2016 Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23950902 2013 The interactions in the carboxyl terminus of human 4-hydroxyphenylpyruvate dioxygenase are critical to mediate the conformation of the final helix and the tail to shield the active site for catalysis.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21572414 2011 A genome-wide association study of metabolic traits in human urine.
21269460 2011 Initial characterization of the human central proteome.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
17560158 2007 Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.
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