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

Summary

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

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Spontaneous (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hpd (e-PCR), detects polymorphism
- UniSTS:143401

D29987 (e-PCR)
- UniSTS:159445

D29987 (e-PCR)
- UniSTS:159447

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

EC 1.13.11.27

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)

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