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Hpdl 4-hydroxyphenylpyruvate dioxygenase-like [ Mus musculus (house mouse) ]

Gene ID: 242642, updated on 4-Jan-2025

Summary

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Official Symbol
Hpdlprovided by MGI
Official Full Name
4-hydroxyphenylpyruvate dioxygenase-likeprovided by MGI
Primary source
MGI:MGI:2444646
See related
Ensembl:ENSMUSG00000043155 AllianceGenome:MGI:2444646
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gloxd1; A830048M07Rik
Summary
Predicted to enable 4-hydroxymandelate synthase activity. Predicted to be involved in aromatic amino acid metabolic process. Located in mitochondrion. Used to study neurodegenerative disease. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 83. Orthologous to human HPDL (4-hydroxyphenylpyruvate dioxygenase like). [provided by Alliance of Genome Resources, Jan 2025]
Orthologs
human all
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Genomic context

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See Hpdl in Genome Data Viewer
Location:
4 D1; 4 53.35 cM
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (116677104..116678705, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (116819907..116821508, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene testis-specific kinase 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:116480418-116480527 Neighboring gene target of EGR1, member 1 (nuclear) Neighboring gene mutY DNA glycosylase Neighboring gene STARR-positive B cell enhancer ABC_E11251 Neighboring gene predicted gene 12996 Neighboring gene ribosomal protein L36, pseudogene 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Ghosh SG, et al. Genet Med, 2021 Mar. PMID 33188300
  2. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. Husain RA, et al. Am J Hum Genet, 2020 Aug 6. PMID 32707086, Free PMC Article
  3. Interactome of vertebrate GAF/ThPOK reveals its diverse functions in gene regulation and DNA repair. Srivastava A, et al. J Biosci, 2020. PMID 32098917
  4. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
  5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

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

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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Homology

Clone Names

  • MGC31514

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 4-hydroxymandelate synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables 4-hydroxyphenylpyruvate dioxygenase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in aromatic amino acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
4-hydroxyphenylpyruvate dioxygenase-like protein
Names
glyoxalase domain containing 1
glyoxalase domain-containing protein 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_146256.3 → NP_666368.1  4-hydroxyphenylpyruvate dioxygenase-like protein

    See identical proteins and their annotated locations for NP_666368.1

    Status: PROVISIONAL

    Source sequence(s)
    AK078929
    Consensus CDS
    CCDS18519.1
    UniProtKB/Swiss-Prot
    Q8K248
    Related
    ENSMUSP00000062327.4, ENSMUST00000055436.5
    Conserved Domains (3) summary
    cd07250
    Location:158 → 363
    HPPD_C_like; C-terminal domain of 4-hydroxyphenylpyruvate dioxygenase (HppD) and hydroxymandelate Synthase (HmaS)
    TIGR01263
    Location:10 → 367
    4HPPD; 4-hydroxyphenylpyruvate dioxygenase
    cl14632
    Location:10 → 148
    Glo_EDI_BRP_like; This domain superfamily is found in a variety of structurally related metalloproteins, including the type I extradiol dioxygenases, glyoxalase I and a group of antibiotic resistance proteins

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_000070.7 Reference GRCm39 C57BL/6J

    Range
    116677104..116678705 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K248.1 GenPept UniProtKB/Swiss-Prot:Q8K248

Gene LinkOut

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