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

Gene ID: 3081, updated on 11-Jul-2021

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
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (120628168..120682555, complement)
105.20201022 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 CRISPRi-validated cis-regulatory element chr3.3352 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 Neighboring gene RAB, member of RAS oncogene family like 3 Neighboring gene MT-CO1 pseudogene 29 Neighboring gene MT-CO2 pseudogene 29

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ94126

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables homogentisate 1,2-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in L-phenylalanine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in L-phenylalanine catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in tyrosine catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA 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

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
    Q93099
    Related
    ENSP00000283871.5, ENST00000283871.10
    Conserved Domains (1) summary
    TIGR01015
    Location:3434
    hmgA; homogentisate 1,2-dioxygenase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    120628168..120682555 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247412.2XP_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_017006277.2XP_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_011512746.2XP_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_005247413.2XP_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_005247414.5XP_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
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