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    HGD homogentisate 1,2-dioxygenase [ Homo sapiens (human) ]

    Gene ID: 3081, updated on 20-Feb-2017
    Official Symbol
    HGDprovided by HGNC
    Official Full Name
    homogentisate 1,2-dioxygenaseprovided by HGNC
    Primary source
    HGNC:HGNC:4892
    See related
    Ensembl:ENSG00000113924 MIM:607474; Vega:OTTHUMG00000159441
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AKU; HGO
    Summary
    This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
    Orthologs
    Location:
    3q13.33
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (120628168..120682571, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (120347015..120401418, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L34 pseudogene 9 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 Neighboring gene RAB, member of RAS oncogene family like 3 Neighboring gene mitochondrially encoded cytochrome c oxidase I pseudogene 29 Neighboring gene mitochondrially encoded cytochrome c oxidase II pseudogene 29

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ94126

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    homogentisate 1,2-dioxygenase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    L-phenylalanine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    L-phenylalanine catabolic process TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    tyrosine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    homogentisate 1,2-dioxygenase
    Names
    homogentisate oxidase
    homogentisate oxygenase
    homogentisic acid oxidase
    homogentisicase
    NP_000178.2

    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.

    Genomic

    1. NG_011957.1 RefSeqGene

      Range
      4911..59314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000187.3NP_000178.2  homogentisate 1,2-dioxygenase

      See identical proteins and their annotated locations for NP_000178.2

      Status: REVIEWED

      Source sequence(s)
      AA861603, AC133474, AK313563, DB231845
      Consensus CDS
      CCDS3000.1
      UniProtKB/Swiss-Prot
      Q93099
      Related
      ENSP00000283871, OTTHUMP00000215350, ENST00000283871, OTTHUMT00000355410
      Conserved Domains (1) summary
      TIGR01015
      Location:3434
      hmgA; homogentisate 1,2-dioxygenase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      120628168..120682571 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247412.1XP_005247469.1  homogentisate 1,2-dioxygenase isoform X1

      Conserved Domains (1) summary
      cl21464
      Location:3359
      cupin_like; Conserved domain found in cupin and related proteins
    2. XM_017006277.1XP_016861766.1  homogentisate 1,2-dioxygenase isoform X3

      UniProtKB/TrEMBL
      B3KW64
      Conserved Domains (1) summary
      cl21464
      Location:1293
      cupin_like; Conserved domain found in cupin and related proteins
    3. XM_011512746.1XP_011511048.1  homogentisate 1,2-dioxygenase isoform X4

      Conserved Domains (1) summary
      cl21464
      Location:3293
      cupin_like; Conserved domain found in cupin and related proteins
    4. XM_005247413.1XP_005247470.1  homogentisate 1,2-dioxygenase isoform X2

      Conserved Domains (1) summary
      cl21464
      Location:3335
      cupin_like; Conserved domain found in cupin and related proteins
    5. XM_005247414.4XP_005247471.1  homogentisate 1,2-dioxygenase isoform X5

      See identical proteins and their annotated locations for XP_005247471.1

      Conserved Domains (1) summary
      cl21464
      Location:3227
      cupin_like; Conserved domain found in cupin and related proteins

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      120310676..120365085 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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