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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]
HGD (Homogentisate 1,2-Dioxygenase) is a Protein Coding gene. Diseases associated with HGD include Alkaptonuria and Ochronosis. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include homogentisate 1,2-dioxygenase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004411 | homogentisate 1,2-dioxygenase activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 21044950 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0042802 | identical protein binding | IPI | 25416956 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism | ||
2 | Metabolism |
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3 | Tyrosine metabolism | ||
4 | Viral mRNA Translation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006520 | cellular amino acid metabolic process | IEA,IBA | 21873635 |
GO:0006559 | L-phenylalanine catabolic process | IEA,TAS | -- |
GO:0006570 | tyrosine metabolic process | IEA | -- |
GO:0006572 | tyrosine catabolic process | TAS,IEA | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
acetic acid | Approved | Pharma | Agonist, Full agonist | 139 | ||
Bevacizumab | Approved, Investigational | Pharma | VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 2368 | ||
Vitamin A | Approved, Vet_approved | Nutra | 685 | |||
Iron | Approved, Experimental | Pharma | 1560 | |||
Oxygen | Approved, Vet_approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Maleylacetoacetic acid |
|
28613-33-4, 5698-52-2 |
|
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HGD 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HGD 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HGD 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HGD 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hgd 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hgd 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | HGD 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HGD 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HGD 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hgd 30 |
|
||
Str.8815 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | hgd 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | hgo 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009609 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | hgo-1 30 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | HGO 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.12262 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os06g0103300 30 |
|
||
Os.11622 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.8867 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.6319 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.8772 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU05499 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.14034 30 |
|
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640206 | Pathogenic: Alkaptonuria | 120,633,257(-) | C/G | MISSENSE_VARIANT | |
643931 | Pathogenic: Alkaptonuria | 120,644,440(-) | GCC/G | ||
707988 | Likely Benign: Alkaptonuria | 120,638,542(-) | G/A | MISSENSE_VARIANT | |
710691 | Benign: Alkaptonuria | 120,670,488(-) | T/A | MISSENSE_VARIANT | |
712390 | Benign/Likely Benign: Alkaptonuria | 120,674,948(-) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
alkaptonuria |
|
|
ochronosis |
|
|
arthropathy |
|
|
prostate calculus |
|
|
idiopathic progressive polyneuropathy |
|
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