HPD (4-hydroxyphenylpyruvate dioxygenase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3242
Gene name Gene Name - the full gene name approved by the HGNC.
4-hydroxyphenylpyruvate dioxygenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HPD
Synonyms (NCBI Gene) Gene synonyms aliases
4-HPPD, 4HPPD, GLOD3, HPPD, HPPDASE, PPD
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs137852865 T>C Pathogenic Coding sequence variant, missense variant
rs137852866 A>C Pathogenic Coding sequence variant, stop gained
rs137852867 G>C Pathogenic Coding sequence variant, stop gained
rs137852868 G>C,T Conflicting-interpretations-of-pathogenicity, benign, likely-benign, pathogenic Coding sequence variant, synonymous variant, missense variant
rs1592913789 A>G Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT1054105 hsa-miR-3147 CLIP-seq
MIRT1054106 hsa-miR-4259 CLIP-seq
MIRT1054107 hsa-miR-4676-5p CLIP-seq
MIRT1054108 hsa-miR-575 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA 21873635
GO:0003868 Function 4-hydroxyphenylpyruvate dioxygenase activity IBA 21873635
GO:0003868 Function 4-hydroxyphenylpyruvate dioxygenase activity IDA 31537781
GO:0003868 Function 4-hydroxyphenylpyruvate dioxygenase activity ISS
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609695 5147 ENSG00000158104
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P32754
Protein name 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27) (4-hydroxyphenylpyruvic acid oxidase) (4HPPD) (HPD) (HPPDase)
Protein function Catalyzes the conversion of 4-hydroxyphenylpyruvic acid to homogentisic acid, one of the steps in tyrosine catabolism.
PDB 3ISQ , 5EC3 , 8IM2 , 8IM3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13669 Glyoxalase_4 20 → 134 Family
PF00903 Glyoxalase 180 → 335 Glyoxalase/Bleomycin resistance protein/Dioxygenase superfamily Domain
Sequence
Sequence length 393
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Ubiquinone and other terpenoid-quinone biosynthesis
Tyrosine metabolism
Phenylalanine metabolism
Metabolic pathways
Biosynthesis of cofactors 		  Tyrosine catabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
Mental retardation Mild Mental Retardation rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Tyrosinemia Tyrosine Transaminase Deficiency Disease, Tyrosinemias, Tyrosinemia, Type I, Tyrosinemia, Type III, Tyrosinemia type 3 rs118203914, rs118203915, rs118203916, rs587776512, rs137852866, rs137852867, rs121965073, rs121965074, rs121965076, rs80338900, rs80338901, rs121965075, rs121965077, rs80338899, rs80338895
View all (74 more)		 11073718, 10942115, 17560158, 4627454, 7774914, 8989996, 23036342
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Hawkinsinuria Hawkinsinuria 17560158, 10942115, 11073718 ClinVar
Show/Hide Text Mining Associations (10)
Associations from Text Mining
Disease Name Relationship Type References
Alkaptonuria Associate 36985595, 40243989
Carcinoma Neuroendocrine Associate 31852810
Diabetes Mellitus Associate 35230239
Hawkinsinuria Associate 26226126
Metabolic Diseases Associate 31578365
Metabolic Syndrome Associate 35230239
Respiratory Tract Diseases Associate 35552657
Tuberculosis Meningeal Associate 35552657
Tuberculosis Pulmonary Inhibit 36040958
Tyrosinemias Associate 16896227