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HPD 4-hydroxyphenylpyruvate dioxygenase [ Homo sapiens (human) ]

Gene ID: 3242, updated on 17-Jun-2019

Summary

Official Symbol
HPDprovided by HGNC
Official Full Name
4-hydroxyphenylpyruvate dioxygenaseprovided by HGNC
Primary source
HGNC:HGNC:5147
See related
Ensembl:ENSG00000158104 MIM:609695
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PPD; 4HPPD; GLOD3; 4-HPPD; HPPDASE
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 (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Expression
Biased expression in liver (RPKM 441.7) and kidney (RPKM 174.9) See more
Orthologs

Genomic context

See HPD in Genome Data Viewer
Location:
12q24.31
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (121839527..121888611, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122277433..122326517, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1089 Neighboring gene SET domain containing 1B, histone lysine methyltransferase Neighboring gene uncharacterized LOC105370035 Neighboring gene proteasome 26S subunit, non-ATPase 9 Neighboring gene RNA, U7 small nuclear 170 pseudogene Neighboring gene Sharpr-MPRA regulatory region 2985/8376 Neighboring gene WD repeat domain 66

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
MedGen: C2931042 OMIM: 140350 GeneReviews: Not available
Compare labs
4-Hydroxyphenylpyruvate dioxygenase deficiency
MedGen: C0268623 OMIM: 276710 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of metabolic traits in human urine.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4-hydroxyphenylpyruvate dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
4-hydroxyphenylpyruvate dioxygenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-phenylalanine catabolic process IEA
Inferred from Electronic Annotation
more info
 
L-phenylalanine catabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
tyrosine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tyrosine catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
4-hydroxyphenylpyruvate dioxygenase
Names
4-hydroxyphenylpyruvic acid oxidase
glyoxalase domain containing 3
NP_001165464.1
NP_002141.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016461.1 RefSeqGene

    Range
    5001..54085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001171993.1NP_001165464.1  4-hydroxyphenylpyruvate dioxygenase isoform 2

    See identical proteins and their annotated locations for NP_001165464.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK057510, X72389
    Consensus CDS
    CCDS53839.1
    UniProtKB/Swiss-Prot
    P32754
    Related
    ENSP00000441677.1, ENST00000543163.5
    Conserved Domains (3) summary
    cd07250
    Location:139334
    HPPD_C_like; C-terminal domain of 4-hydroxyphenylpyruvate dioxygenase (HppD) and hydroxymandelate Synthase (HmaS)
    cd08342
    Location:1123
    HPPD_N_like; N-terminal domain of 4-hydroxyphenylpyruvate dioxygenase (HPPD) and hydroxymandelate Synthase (HmaS)
    TIGR01263
    Location:1342
    4HPPD; 4-hydroxyphenylpyruvate dioxygenase
  2. NM_002150.3NP_002141.2  4-hydroxyphenylpyruvate dioxygenase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC079360
    Consensus CDS
    CCDS9224.1
    Related
    ENSP00000289004.4, ENST00000289004.8
    Conserved Domains (1) summary
    TIGR01263
    Location:19381
    4HPPD; 4-hydroxyphenylpyruvate dioxygenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    121839527..121888611 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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