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Hpd 4-hydroxyphenylpyruvic acid dioxygenase [ Mus musculus (house mouse) ]

Gene ID: 15445, updated on 27-Nov-2024

Summary

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Official Symbol
Hpdprovided by MGI
Official Full Name
4-hydroxyphenylpyruvic acid dioxygenaseprovided by MGI
Primary source
MGI:MGI:96213
See related
Ensembl:ENSMUSG00000029445 AllianceGenome:MGI:96213
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Fla; Flp; Laf; Hppd; 4HPPD
Summary
Predicted to enable 4-hydroxyphenylpyruvate dioxygenase activity; iron ion binding activity; and protein homodimerization activity. Predicted to be involved in tyrosine catabolic process. Predicted to be located in Golgi apparatus and endoplasmic reticulum. Predicted to be active in Golgi membrane and endoplasmic reticulum membrane. Is expressed in alimentary system; liver; musculature; and respiratory system. Used to study tyrosinemia type III. Human ortholog(s) of this gene implicated in hawkinsinuria and tyrosinemia type III. Orthologous to human HPD (4-hydroxyphenylpyruvate dioxygenase). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in liver adult (RPKM 1170.9), liver E18 (RPKM 236.0) and 1 other tissue See more
Orthologs
human all
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Genomic context

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See Hpd in Genome Data Viewer
Location:
5 F; 5 62.82 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (123309870..123320786, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (123171807..123182723, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8079 Neighboring gene STARR-seq mESC enhancer starr_14314 Neighboring gene STARR-positive B cell enhancer ABC_E2763 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:123591600-123591709 Neighboring gene expressed sequence AI480526 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:123599408-123599706 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:123599709-123599818 Neighboring gene STARR-positive B cell enhancer ABC_E6378 Neighboring gene STARR-seq mESC enhancer starr_14316 Neighboring gene SET domain containing 1B Neighboring gene predicted gene, 54284 Neighboring gene STARR-positive B cell enhancer ABC_E9262 Neighboring gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 Neighboring gene ribosomal protein L35A, pseudogene 6 Neighboring gene cilia and flagella associated protein 251

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Inhibition of lymphocyte proliferation by murine liver-specific F antigen. Lane DP, et al. Transplant Proc, 1977 Mar. PMID 867484
  2. The identification and cloning of the murine genes encoding the liver specific F alloantigens. Teuber SS, et al. J Autoimmun, 1991 Dec. PMID 1667467
  3. Sequences of the mouse F protein alleles and identification of a T cell epitope. Schofield JP, et al. Eur J Immunol, 1991 May. PMID 1709870
  4. A murine model for type III tyrosinemia: lack of immunologically detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein in a novel mouse strain with hypertyrosinemia. Endo F, et al. Am J Hum Genet, 1991 Apr. PMID 2014797, Free PMC Article
  5. Induction by allogeneic extracts of liver-specific precipitating autoantibodies in the mouse. Fravi G, et al. Nature, 1968 Apr 13. PMID 4967053

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The findings reveal a previously unknown regulation of 4-hydroxyphenylpyruvic acid dioxygenase (HPD) expression and highlight the physiological significance of TTC36-STK33-PELI1-regulated HPD expression in tyrosinemia and tyrosinemia-associated neurological disorders.
    Title: HPD degradation regulated by the TTC36-STK33-PELI1 signaling axis induces tyrosinemia and neurological damage.
  2. We observed long-term postnatal persistence of edited cells in both models, with reduction of plasma PCSK9 and cholesterol levels following in utero Pcsk9 targeting and rescue of the lethal phenotype of hereditary tyrosinemia type 1 following in utero Hpd targeting
    Title: In utero CRISPR-mediated therapeutic editing of metabolic genes.
  3. Gene expressions in tyrosinemia type I model mice with liver failure using microarrays. Numerous genes, including amino acid metabolism and apoptosis related genes, were up- or down-regulated at the onset of liver failure.
    Title: Gene expression profiles of homogentisate-treated Fah-/- Hpd-/-mice using DNA microarrays.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (6) 
  • Spontaneous (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 4-hydroxyphenylpyruvate dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 4-hydroxyphenylpyruvate dioxygenase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables 4-hydroxyphenylpyruvate dioxygenase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables iron ion binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in L-phenylalanine catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in tyrosine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within tyrosine catabolic process ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in tyrosine catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in tyrosine catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi membrane ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
4-hydroxyphenylpyruvate dioxygenase
Names
4-hydroxyphenylpyruvic acid oxidase
F liver antigen
F protein
HPPDase
f Alloantigen
NP_032303.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_008277.3 → NP_032303.1  4-hydroxyphenylpyruvate dioxygenase

    See identical proteins and their annotated locations for NP_032303.1

    Status: VALIDATED

    Source sequence(s)
    AC163337, AK149416
    Consensus CDS
    CCDS39265.1
    UniProtKB/Swiss-Prot
    P49429, P97322, Q3UEQ0, Q91WV9
    Related
    ENSMUSP00000031398.8, ENSMUST00000031398.14
    Conserved Domains (3) summary
    cd07250
    Location:178 → 373
    HPPD_C_like; C-terminal domain of 4-hydroxyphenylpyruvate dioxygenase (HppD) and hydroxymandelate Synthase (HmaS)
    cd08342
    Location:19 → 162
    HPPD_N_like; N-terminal domain of 4-hydroxyphenylpyruvate dioxygenase (HPPD) and hydroxymandelate Synthase (HmaS)
    TIGR01263
    Location:19 → 381
    4HPPD; 4-hydroxyphenylpyruvate dioxygenase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    123309870..123320786 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49429.3 GenPept UniProtKB/Swiss-Prot:P49429

Gene LinkOut

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