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Aliases for HGD Gene

Aliases for HGD Gene

  • Homogentisate 1,2-Dioxygenase 2 3
  • Homogentisic Acid Oxidase 3 4
  • Homogentisate Oxygenase 3 4
  • Homogentisate Oxidase 2 3
  • Homogentisicase 3 4
  • EC 1.13.11.5 4 63
  • AKU 3 6
  • HGO 3 4
  • Homogentisate 1,2-Dioxygenase (Homogentisate Oxidase) 2

External Ids for HGD Gene

Previous HGNC Symbols for HGD Gene

  • AKU

Previous GeneCards Identifiers for HGD Gene

  • GC03M116980
  • GC03M119987
  • GC03M121628
  • GC03M121667
  • GC03M121829
  • GC03P9I0013
  • GC03M120347
  • GC03M117720

Summaries for HGD Gene

Entrez Gene Summary for HGD Gene

  • 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]

GeneCards Summary for HGD Gene

HGD (Homogentisate 1,2-Dioxygenase) is a Protein Coding gene. Diseases associated with HGD include alkaptonuria and ochronosis. Among its related pathways are Metabolism and Metabolism.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HGD Gene

Genomics for HGD Gene

Genomic Location for HGD Gene

Start:
120,628,168 bp from pter
End:
120,682,571 bp from pter
Size:
54,404 bases
Orientation:
Minus strand

Genomic View for HGD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HGD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HGD Gene

Proteins for HGD Gene

  • Protein details for HGD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93099-HGD_HUMAN
    Recommended name:
    Homogentisate 1,2-dioxygenase
    Protein Accession:
    Q93099
    Secondary Accessions:
    • A8K417
    • B2R8Z0

    Protein attributes for HGD Gene

    Size:
    445 amino acids
    Molecular mass:
    49964 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    • Homohexamer arranged as a dimer of trimers.

    Three dimensional structures from OCA and Proteopedia for HGD Gene

neXtProt entry for HGD Gene

Proteomics data for HGD Gene at MOPED

Post-translational modifications for HGD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HGD Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for HGD Gene

Protein Domains for HGD Gene

Suggested Antigen Peptide Sequences for HGD Gene

Graphical View of Domain Structure for InterPro Entry

Q93099

UniProtKB/Swiss-Prot:

HGD_HUMAN :
  • Q93099
Family:
  • Belongs to the homogentisate dioxygenase family.
genes like me logo Genes that share domains with HGD: view

No data available for Gene Families for HGD Gene

Function for HGD Gene

Molecular function for HGD Gene

GENATLAS Biochemistry: homogentisate 1,2 dioxygenase (49kDa),catalyzing the third step of tyrosine catabolism
UniProtKB/Swiss-Prot CatalyticActivity: Homogentisate + O(2) = 4-maleylacetoacetate

Enzyme Numbers (IUBMB) for HGD Gene

Gene Ontology (GO) - Molecular Function for HGD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004411 homogentisate 1,2-dioxygenase activity EXP --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HGD: view
genes like me logo Genes that share phenotypes with HGD: view

miRNA for HGD Gene

miRTarBase miRNAs that target HGD

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for HGD Gene

Localization for HGD Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HGD Gene COMPARTMENTS Subcellular localization image for HGD gene
Compartment Confidence
cytosol 4
extracellular 2
nucleus 2

Gene Ontology (GO) - Cellular Components for HGD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with HGD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HGD Gene

Pathways for HGD Gene

genes like me logo Genes that share pathways with HGD: view

Pathways by source for HGD Gene

2 KEGG pathways for HGD Gene

UniProtKB/Swiss-Prot Q93099-HGD_HUMAN

  • Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 4/6

Gene Ontology (GO) - Biological Process for HGD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process --
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0006570 tyrosine metabolic process --
GO:0006572 tyrosine catabolic process IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
genes like me logo Genes that share ontologies with HGD: view

Compounds for HGD Gene

(4) HMDB Compounds for HGD Gene

Compound Synonyms Cas Number PubMed IDs
Homogentisic acid
  • (2,5-dihydroxyphenyl)-Acetate
451-13-8
Iron
  • Armco iron
7439-89-6
Maleylacetoacetic acid
  • Maleylacetoacetate
5698-52-2
Oxygen
  • Oxygen
7782-44-7

(4) Novoseek inferred chemical compound relationships for HGD Gene

Compound -log(P) Hits PubMed IDs
homogentisate 97.8 24
maleylacetoacetate 81.7 2
phenylalanine 62 4
tyrosine 46.7 8
genes like me logo Genes that share compounds with HGD: view

Transcripts for HGD Gene

Unigene Clusters for HGD Gene

Homogentisate 1,2-dioxygenase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HGD Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b
SP1: - - -
SP2: - - - - -
SP3: - - - - - - -
SP4:
SP5:
SP6:

Relevant External Links for HGD Gene

GeneLoc Exon Structure for
HGD
ECgene alternative splicing isoforms for
HGD

Expression for HGD Gene

mRNA expression in normal human tissues for HGD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HGD Gene

This gene is overexpressed in Liver (31.7) and Kidney - Cortex (8.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HGD Gene

SOURCE GeneReport for Unigene cluster for HGD Gene Hs.368254

mRNA Expression by UniProt/SwissProt for HGD Gene

Q93099-HGD_HUMAN
Tissue specificity: Highest expression in the prostate, small intestine, colon, kidney and liver
genes like me logo Genes that share expressions with HGD: view

Orthologs for HGD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HGD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HGD 35
  • 99.78 (n)
  • 99.33 (a)
HGD 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HGD 35
  • 91.24 (n)
  • 94.38 (a)
HGD 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HGD 35
  • 91.16 (n)
  • 94.61 (a)
HGD 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hgd 35
  • 88.44 (n)
  • 92.79 (a)
Hgd 16
Hgd 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HGD 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HGD 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hgd 35
  • 88.44 (n)
  • 91.22 (a)
chicken
(Gallus gallus)
Aves HGD 35
  • 76.92 (n)
  • 83.6 (a)
HGD 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HGD 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hgd 35
  • 72.95 (n)
  • 77.7 (a)
Str.8815 35
zebrafish
(Danio rerio)
Actinopterygii hgd 35
  • 72.54 (n)
  • 80.78 (a)
hgd 36
  • 80 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009609 35
  • 61.03 (n)
  • 66.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta hgo 35
  • 65.59 (n)
  • 67.44 (a)
hgo 36
  • 67 (a)
OneToOne
hgo 37
  • 65 (a)
worm
(Caenorhabditis elegans)
Secernentea hgo-1 35
  • 61.83 (n)
  • 66.98 (a)
hgo-1 36
  • 65 (a)
OneToOne
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12262 35
thale cress
(Arabidopsis thaliana)
eudicotyledons HGO 35
  • 60.27 (n)
  • 60.19 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.8867 35
corn
(Zea mays)
Liliopsida Zm.8772 35
rice
(Oryza sativa)
Liliopsida Os.11622 35
Os06g0103300 35
  • 58.14 (n)
  • 59.86 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6319 35
bread mold
(Neurospora crassa)
Ascomycetes NCU05499 35
  • 55.27 (n)
  • 53.54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14034 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
OneToOne
Species with no ortholog for HGD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for HGD Gene

ENSEMBL:
Gene Tree for HGD (if available)
TreeFam:
Gene Tree for HGD (if available)

Paralogs for HGD Gene

No data available for Paralogs for HGD Gene

Variants for HGD Gene

Sequence variations from dbSNP and Humsavar for HGD Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs104790 -- 120,639,559(+) TGGGT(A/C)TGAGA intron-variant
rs368272 -- 120,641,471(-) CCCTA(A/G)ATATA intron-variant
rs370523 -- 120,633,659(-) TAGAG(A/T)ACATT intron-variant
rs377286 -- 120,632,272(-) GCAGA(A/G)ACCTG intron-variant
rs384136 -- 120,634,368(-) TCTAT(G/T)GTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HGD Gene

Variant ID Type Subtype PubMed ID
nsv877377 CNV Gain 21882294
nsv829699 CNV Loss 17160897
nsv877378 CNV Gain 21882294

Relevant External Links for HGD Gene

HapMap Linkage Disequilibrium report
HGD
Human Gene Mutation Database (HGMD)
HGD
Locus Specific Mutation Databases (LSDB)
HGD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HGD Gene

Disorders for HGD Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for HGD Gene including...

Search for HGD Gene in MalaCards »

(1) OMIM Diseases for HGD Gene (607474)

UniProtKB/Swiss-Prot

HGD_HUMAN
  • Alkaptonuria (AKU) [MIM:203500]: An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. {ECO:0000269 PubMed:10205262, ECO:0000269 PubMed:10340975, ECO:0000269 PubMed:10482952, ECO:0000269 PubMed:10594001, ECO:0000269 PubMed:19862842, ECO:0000269 PubMed:21437689, ECO:0000269 PubMed:23353776, ECO:0000269 PubMed:23430897, ECO:0000269 PubMed:25681086, ECO:0000269 PubMed:8782815, ECO:0000269 PubMed:9154114, ECO:0000269 PubMed:9529363, ECO:0000269 PubMed:9630082}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) University of Copenhagen DISEASES for HGD Gene

(7) Novoseek inferred disease relationships for HGD Gene

Disease -log(P) Hits PubMed IDs
alkaptonuria 98.7 42
ochronosis 97.7 13
metabolic disorder 67.9 8
arthropathy 67.7 3
arthritis 54.9 1

Relevant External Links for HGD

GeneTests
HGD
GeneReviews
HGD
Genetic Association Database (GAD)
HGD
Human Genome Epidemiology (HuGE) Navigator
HGD
genes like me logo Genes that share disorders with HGD: view

Publications for HGD Gene

  1. The human gene for alkaptonuria (AKU) maps to chromosome 3q. (PMID: 8188241) Janocha S. … MA1ller C.R. (Genomics 1994) 2 3 23
  2. The molecular basis of alkaptonuria. (PMID: 8782815) Fernandez-Canon J.M. … Rodriguez de Cordoba S. (Nat. Genet. 1996) 3 4 23
  3. Molecular defects in alkaptonuria. (PMID: 9154114) Gehrig A. … Kress W. (Cytogenet. Cell Genet. 1997) 3 4 23
  4. Allelic heterogeneity of alkaptonuria in Central Europe. (PMID: 10482952) Mueller C.R. … Kress W. (Eur. J. Hum. Genet. 1999) 3 4 23
  5. Mutational analysis of the HGO gene in Finnish alkaptonuria patients. (PMID: 10594001) Beltran-Valero de Bernabe D. … Ranki A. (J. Med. Genet. 1999) 3 4 23

Products for HGD Gene

Sources for HGD Gene

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