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    HPDL 4-hydroxyphenylpyruvate dioxygenase like [ Homo sapiens (human) ]

    Gene ID: 84842, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HPDLprovided by HGNC
    Official Full Name
    4-hydroxyphenylpyruvate dioxygenase likeprovided by HGNC
    Primary source
    HGNC:HGNC:28242
    See related
    Ensembl:ENSG00000186603 MIM:618994; AllianceGenome:HGNC:28242
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPG83; GLOXD1; NEDSWMA; 4-HPPD-L
    Summary
    The protein encoded by this intronless gene localizes to mitochondria, where it may function as 4-hydroxyphenylpyruvate dioxygenase. Clinical studies have identified several bi-allelic variants in this gene that lower the level of the encoded protein and lead to a clinically variable form of pediatric-onset spastic movement disorder. [provided by RefSeq, Aug 2020]
    Orthologs
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    Genomic context

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    See HPDL in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45326895..45328710)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (45198451..45200266)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45792567..45794382)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378691 Neighboring gene Sharpr-MPRA regulatory region 9521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 828 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 962 Neighboring gene long intergenic non-protein coding RNA 1144 Neighboring gene Sharpr-MPRA regulatory region 12838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 965 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:45795127-45796061 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45805164-45805831 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45805832-45806500 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45806501-45807167 Neighboring gene mutY DNA glycosylase Neighboring gene uncharacterized LOC124904849 Neighboring gene target of EGR1, exonuclease Neighboring gene testis associated actin remodelling kinase 2

    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. A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review. Kojima F, et al. Neurogenetics, 2024 Apr. PMID 38286980
    2. HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders. Wang Y, et al. Mol Genet Genomic Med, 2022 Oct. PMID 35985664, Free PMC Article
    3. Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient. Yu H, et al. Clin Genet, 2021 Dec. PMID 34515336
    4. The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway. Banh RS, et al. Nature, 2021 Sep. PMID 34471290, Free PMC Article
    5. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Wiessner M, et al. Brain, 2021 Jun 22. PMID 33970200, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.
      Title: A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.
    2. HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.
      Title: HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.
    3. Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient.
      Title: Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient.
    4. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
      Title: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
    5. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
      Title: Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
    MedGen: C5436628 OMIM: 619026 GeneReviews: Not available
    		Compare labs
    Spastic paraplegia 83, autosomal recessive
    MedGen: C5436637 OMIM: 619027 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC15668

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4-hydroxymandelate synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    4-hydroxyphenylpyruvate dioxygenase-like protein
    Names
    HPD-like protein
    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_032756.4 → NP_116145.1  4-hydroxyphenylpyruvate dioxygenase-like protein

      See identical proteins and their annotated locations for NP_116145.1

      Status: VALIDATED

      Source sequence(s)
      AL359540
      Consensus CDS
      CCDS519.1
      UniProtKB/Swiss-Prot
      B2R9B0, Q96IR7
      Related
      ENSP00000335060.3, ENST00000334815.6
      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 → 368
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      45326895..45328710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      45198451..45200266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96IR7.1 GenPept UniProtKB/Swiss-Prot:Q96IR7

    Gene LinkOut

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

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