Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3242
Gene name	4-hydroxyphenylpyruvate dioxygenase
Gene symbol	HPD
Synonyms (NCBI Gene)	4-HPPD4HPPDGLOD3HPPDHPPDASEPPD
Chromosome	12
Chromosome location	12q24.31
Summary	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

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

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0003868	Function	4-hydroxyphenylpyruvate dioxygenase activity	IBA
GO:0003868	Function	4-hydroxyphenylpyruvate dioxygenase activity	IDA	1339442, 31537781
GO:0003868	Function	4-hydroxyphenylpyruvate dioxygenase activity	IEA
GO:0003868	Function	4-hydroxyphenylpyruvate dioxygenase activity	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006559	Process	L-phenylalanine catabolic process	IEA
GO:0006572	Process	L-tyrosine catabolic process	IBA
GO:0006572	Process	L-tyrosine catabolic process	IDA	31537781
GO:0006572	Process	L-tyrosine catabolic process	IEA
GO:0006572	Process	L-tyrosine catabolic process	ISS
GO:0006572	Process	L-tyrosine catabolic process	TAS	7851880
GO:0009072	Process	Aromatic amino acid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016701	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	1339442
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
609695	5147	ENSG00000158104

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

MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQAASFYCSKMGFEPLAYRGLETGSREVVSH
VIKQGKIVFVLSSALNPWNKEMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMRE
PWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGYEAPAFMDPLLPKLPKCSLEM
IDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPI
NEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLR
EKLKTAKIKVKENIDALEELKILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGFG
AGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM

Sequence length

393

Interactions

View interactions

	KEGG		Reactome
	Ubiquinone and other terpenoid-quinone biosynthesis Tyrosine metabolism Phenylalanine metabolism Metabolic pathways Biosynthesis of cofactors		Tyrosine catabolism

702

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hawkinsinuria	Pathogenic; Likely pathogenic	rs2137631671, rs137852865, rs762267460, rs2500327296, rs2500329137, rs747956311, rs142252243, rs2500298619, rs113472814, rs1386803894, rs2500289881, rs113367095, rs2500331848, rs2500329430, rs2500327527 View all (8 more)	RCV001903686 RCV001297386 RCV003077399 RCV003020314 RCV003055865 RCV003778669 RCV003785507 RCV003797856 RCV003782776 RCV003791992 RCV003794655 RCV003806950 RCV003793698 RCV003805774 RCV003794892 RCV003809041 RCV003804767 RCV003804594 RCV003809935 RCV003818114 RCV000634916 RCV000690834 RCV000796401 RCV001226133 RCV001258320
Tyrosinemia type III	Pathogenic; Likely pathogenic	rs2137619413, rs2137631671, rs137852865, rs137852866, rs137852867, rs762267460, rs2500327296, rs2500329137, rs747956311, rs2500289988, rs2500298650, rs142252243, rs2500298619, rs113472814, rs1386803894 View all (12 more)	RCV001808001 RCV001903686 RCV000001639 RCV000001640 RCV000001641 RCV003077399 RCV003020314 RCV003055865 RCV003123426 RCV003155618 RCV003226729 RCV003785507 RCV003797856 RCV003782776 RCV003791992 RCV003794655 RCV003806950 RCV003793698 RCV003805774 RCV003794892 RCV003809041 RCV003804767 RCV003804594 RCV003809935 RCV003818114 RCV000634916 RCV000690834 RCV000796401 RCV001226133

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs1154511, rs2596143, rs35849100	RCV005916985 RCV005917384 RCV005895085
Cholangiocarcinoma	Benign; Likely benign	rs140788110	RCV005893076
Clear cell carcinoma of kidney	Benign; Likely benign	rs140788110	RCV005893074
Familial cancer of breast	Benign; Likely benign	rs140788110	RCV005893072
Gastric cancer	Benign	rs35849100	RCV005895087
Hepatocellular carcinoma	Benign; Likely benign	rs35849100, rs140788110	RCV005895086 RCV005893073
HPD-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	rs137852868, rs749662591, rs377475703, rs760875958, rs144544907, rs2707072, rs776140021, rs766105515	RCV003964786 RCV003939204 RCV003956566 RCV003893400 RCV003957595 RCV003983008 RCV003958379 RCV003399083
Hypertyrosinemia	Uncertain significance; Likely benign; Benign	rs774495352, rs199549271, rs3741591	RCV000305407 RCV000299023 RCV000355370
Malignant tumor of esophagus	Benign	rs2596143	RCV005917385
Ovarian serous cystadenocarcinoma	Benign	rs1154511, rs2596143	RCV005916986 RCV005917387
Sarcoma	Benign	rs2596143	RCV005917386
Thymoma	Benign	rs2596143	RCV005917388
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs140788110	RCV005893075
Uterine corpus endometrial carcinoma	Benign	rs1154511, rs2596143	RCV005916987 RCV005917389

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

HPD (4-hydroxyphenylpyruvate dioxygenase)