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3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]
HAAO (3-Hydroxyanthranilate 3,4-Dioxygenase) is a Protein Coding gene. Diseases associated with HAAO include Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 and Congenital Vertebral-Cardiac-Renal Anomalies Syndrome. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and superpathway of tryptophan utilization. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000334 | 3-hydroxyanthranilate 3,4-dioxygenase activity | IEA,IDA | 7514594 |
GO:0005506 | iron ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0008198 | ferrous iron binding | IEA,IDA | 12007609 |
GO:0009055 | electron transfer activity | NAS | 7514594 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism | ||
2 | superpathway of tryptophan utilization | ||
3 | Metabolism |
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4 | Tryptophan metabolism | ||
5 | Viral mRNA Translation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006569 | tryptophan catabolic process | TAS | -- |
GO:0009435 | NAD biosynthetic process | IMP | 28792876 |
GO:0010043 | response to zinc ion | IDA | 12007609 |
GO:0019363 | pyridine nucleotide biosynthetic process | IEA | -- |
GO:0019805 | quinolinate biosynthetic process | NAS | 7514594 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
2-Amino-3-carboxymuconic acid semialdehyde |
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16597-58-3 |
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ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | HAAO 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HAAO 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Haao 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Haao 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HAAO 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | HAAO 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HAAO 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | haao 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68644 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | haao 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | haao-1 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACL127W 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BNA1 30 31 33 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03282 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
804383 | Likely Pathogenic: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 | 42,783,783(-) | C/T | SPLICE_DONOR_VARIANT | |
rs1135401743 | Pathogenic: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; Congenital NAD deficiency disorder | 42,769,785(-) | C/T | NONSENSE | |
rs527656756 | Pathogenic: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; Congenital NAD deficiency disorder | 42,770,143(-) | C/CA | NONSENSE | |
rs3816182 | - | p.Thr42Ser | |||
rs3816183 | - | p.Ile37Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
vertebral, cardiac, renal, and limb defects syndrome 1 |
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congenital vertebral-cardiac-renal anomalies syndrome |
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phonagnosia |
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