• Gene id: 3242

Gene Summary

• Gene Symbol: HPD   Gene   UCSC   Ensembl
• Aliases: 4-HPPD, 4HPPD, GLOD3, HPPDASE, PPD
• Gene name: 4-hydroxyphenylpyruvate dioxygenase
• Alternate names: 4-hydroxyphenylpyruvate dioxygenase, 4-hydroxyphenylpyruvic acid oxidase, glyoxalase domain containing 3,
• Gene location: 12q24.31 (121888610: 121839526)     Exons: 17     NC_000012.12
• Gene summary(Entrez): 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

rs1545125

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.51083534A>G
NC_000007.13   g.51151231A>G
NG_051816.1   g.238328T>C|SEQ=[A/G]|GENE=COBL

Protein Summary

• Protein general information: P32754  
  • Name: 4 hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27) (4 hydroxyphenylpyruvic acid oxidase) (4HPPD) (HPD) (HPPDase)
  • Length: 393  
  • Mass: 44934
• Sequence:

  MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQAASFYCSKMGFEPLAYRGLETGSREVVSHVIKQGKIVFVLSSAL
  NPWNKEMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMREPWVEQDKFGKVKFAVLQTYGDTTHTLVEKM
  NYIGQFLPGYEAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVHTEYSSLR
  SIVVANYEESIKMPINEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLR
  EKLKTAKIKVKENIDALEELKILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGFGAGNFNSLFKAFEEEQ
  NLRGNLTNMETNGVVPGM

• Structural information:
  • Protein Domains: (18..14-)
    (/note="VOC-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01163-)
    (180..33-)
    (/note="VOC-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01163"-)
  • Interpro: IPR005956  IPR041735  IPR041736  IPR029068  IPR004360   IPR037523  
  • Prosite: PS51819
  • CDD: cd07250 cd08342
  • PDB: 3ISQ 5EC3
  • PDBsum: 3ISQ 5EC3
  • STRING: ENSP00000289004
• Other Databases: GeneCards:  HPD  Malacards:  HPD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0000139	Golgi membrane	IBA	cellular component
GO:0006572	tyrosine catabolic process	IBA	biological process
GO:0003868	4-hydroxyphenylpyruvate dioxygenase activity	IBA	molecular function
GO:0006572	tyrosine catabolic process	ISS	biological process
GO:0003868	4-hydroxyphenylpyruvate dioxygenase activity	ISS	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003868	4-hydroxyphenylpyruvate dioxygenase activity	IEA	molecular function
GO:0009072	aromatic amino acid family metabolic process	IEA	biological process
GO:0016701	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006559	L-phenylalanine catabolic process	IEA	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0006572	tyrosine catabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006572	tyrosine catabolic process	TAS	biological process
GO:0003868	4-hydroxyphenylpyruvate dioxygenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006559	L-phenylalanine catabolic process	TAS	biological process
GO:0006559	L-phenylalanine catabolic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00350	Tyrosine metabolism
hsa00360	Phenylalanine metabolism
hsa00130	Ubiquinone and other terpenoid-quinone biosynthesis

Diseases

Associated diseases	References
Tyrosinemia	KEGG:H00165
Tyrosinemia	KEGG:H00165
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq