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

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

    Summary

    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
    NEW
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    Genomic context

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    General gene information

    Clone Names

    • MGC15668

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in mitochondrial matrix  
    located_in mitochondrion PubMed 
    located_in mitochondrion PubMed 

    General protein information

    Preferred Names
    4-hydroxyphenylpyruvate dioxygenase-like protein
    Names
    HPD-like protein
    glyoxalase domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)
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