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

    Gene ID: 242642, updated on 9-Dec-2024

    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-hydroxyphenylpyruvate dioxygenase activity and metal ion binding 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, Dec 2024]
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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