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

Gene ID: 3081, updated on 4-Jan-2025

Summary

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; AllianceGenome:HGNC:4892
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]
Expression
Biased expression in liver (RPKM 82.5), kidney (RPKM 39.4) and 7 other tissues See more
Orthologs
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Genomic context

See HGD in Genome Data Viewer
Location:
3q13.33
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (120628172..120682239, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (123348044..123402117, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (120347019..120401086, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L34 pseudogene 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:120283490-120283693 Neighboring gene CRISPRi-validated cis-regulatory element chr3.3352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20335 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:120360644-120361843 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:120395854-120396804 Neighboring gene RAB, member of RAS oncogene family like 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:120438328-120438887 Neighboring gene MT-CO1 pseudogene 29 Neighboring gene MT-CO2 pseudogene 29

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Alkaptonuria
MedGen: C0002066 OMIM: 203500 GeneReviews: Alkaptonuria
Compare labs

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ94126

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables homogentisate 1,2-dioxygenase activity  
enables homogentisate 1,2-dioxygenase activity PubMed 
enables identical protein binding PubMed 
enables metal ion binding  
enables protein binding PubMed 
Process Evidence Code Pubs
involved_in L-phenylalanine catabolic process  
involved_in L-phenylalanine catabolic process  
involved_in tyrosine catabolic process  
Component Evidence Code Pubs
located_in cytosol  
located_in extracellular exosome PubMed 

General protein information

Preferred Names
homogentisate 1,2-dioxygenase
Names
homogentisate oxidase
homogentisate oxygenase
homogentisic acid oxidase
homogentisicase
NP_000178.2
XP_005247469.1
XP_005247470.1
XP_005247471.1
XP_011511048.1
XP_016861766.1
XP_047304014.1
XP_047304015.1
XP_054202370.1
XP_054202371.1
XP_054202372.1
XP_054202373.1
XP_054202374.1
XP_054202375.1
XP_054202376.1

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.

Genomic

  1. NG_011957.1 RefSeqGene

    Range
    5243..59310
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000187.4NP_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
    Consensus CDS
    CCDS3000.1
    UniProtKB/Swiss-Prot
    A8K417, B2R8Z0, Q93099
    Related
    ENSP00000283871.5, ENST00000283871.10
    Conserved Domains (1) summary
    TIGR01015
    Location:3434
    hmgA; homogentisate 1,2-dioxygenase

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    120628172..120682239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247412.3XP_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_017006277.3XP_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_047448059.1XP_047304015.1  homogentisate 1,2-dioxygenase isoform X7

  4. XM_047448058.1XP_047304014.1  homogentisate 1,2-dioxygenase isoform X5

  5. XM_011512746.3XP_011511048.1  homogentisate 1,2-dioxygenase isoform X4

    UniProtKB/TrEMBL
    Q8WW71
    Conserved Domains (1) summary
    cl21464
    Location:3293
    cupin_like; Conserved domain found in cupin and related proteins
  6. XM_005247413.3XP_005247470.1  homogentisate 1,2-dioxygenase isoform X2

    UniProtKB/TrEMBL
    Q8WW71
    Conserved Domains (1) summary
    cl21464
    Location:3335
    cupin_like; Conserved domain found in cupin and related proteins
  7. XM_005247414.6XP_005247471.1  homogentisate 1,2-dioxygenase isoform X6

    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 T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    123348044..123402117 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346395.1XP_054202370.1  homogentisate 1,2-dioxygenase isoform X1

  2. XM_054346397.1XP_054202372.1  homogentisate 1,2-dioxygenase isoform X3

    UniProtKB/TrEMBL
    B3KW64
  3. XM_054346401.1XP_054202376.1  homogentisate 1,2-dioxygenase isoform X7

  4. XM_054346399.1XP_054202374.1  homogentisate 1,2-dioxygenase isoform X5

  5. XM_054346398.1XP_054202373.1  homogentisate 1,2-dioxygenase isoform X4

    UniProtKB/TrEMBL
    Q8WW71
  6. XM_054346396.1XP_054202371.1  homogentisate 1,2-dioxygenase isoform X2

    UniProtKB/TrEMBL
    Q8WW71
  7. XM_054346400.1XP_054202375.1  homogentisate 1,2-dioxygenase isoform X6

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