Details of Protein
| General Information of Protein (ID: PRT00309) | |||||
|---|---|---|---|---|---|
| Name | 3-hydroxyanthranilate oxygenase (HAAO) | ||||
| Synonyms |
Click to Show/Hide Synonyms of This Protein
3-hydroxyanthranilate oxygenase; 3-HAO; h3HAO; 3-hydroxyanthranilic acid dioxygenase; HAD; HAAO
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| Gene Name | HAAO | Gene ID | |||
| UniProt ID | |||||
| Family | Oxidoreductases (EC 1) | ||||
| EC Number | EC: 1.13.11.6 (Click to Show/Hide the Complete EC Tree) | ||||
| Click to Show/Hide the Molecular/Functional Data (Sequence/Structure/Function) of This Protein | |||||
| Sequence |
MERRLGVRAWVKENRGSFQPPVCNKLMHQEQLKVMFIGGPNTRKDYHIEEGEEVFYQLEG
DMVLRVLEQGKHRDVVIRQGEIFLLPARVPHSPQRFANTVGLVVERRRLETELDGLRYYV GDTMDVLFEKWFYCKDLGTQLAPIIQEFFSSEQYRTGKPIPDQLLKEPPFPLSTRSIMEP MSLDAWLDSHHRELQAGTPLSLFGDTYETQVIAYGQGSSEGLRQNVDVWLWQLEGSSVVT MGGRRLSLAPDDSLLVLAGTSYAWERTQGSVALSVTQDPACKKPLG |
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| Structure | |||||
| Function | Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate. | ||||
| Regulatory Network | |||||
| Full List of Metabolite(s) Regulated by This Protein | ||||||
|---|---|---|---|---|---|---|
| Nucleosides, nucleotides, and analogues | ||||||
| NAD | Click to Show/Hide the Full List of Regulating Pair(s): 2 Pair(s) | |||||
| Detailed Information |
Metabo Info
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|
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| Regulating Pair (1) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.558G-A) of HAAO | |||||
| Induced Change | NAD concentration: decrease | |||||
| Summary | Introduced Variation
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| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.558G-A) of HAAO leads to the decrease of NAD levels compared with control group. | |||||
| Regulating Pair (2) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.483dupT) of HAAO | |||||
| Induced Change | NAD concentration: decrease (FC= 0.33) | |||||
| Summary | Introduced Variation
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| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.483dupT) of HAAO leads to the decrease of NAD levels compared with control group. | |||||
| Benzenoids | ||||||
| 3-Hydroxyanthranilic acid | Click to Show/Hide the Full List of Regulating Pair(s): 2 Pair(s) | |||||
| Detailed Information |
Metabo Info
click to show the details of this metabolite
|
|||||
| Regulating Pair (1) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.483dupT) of HAAO | |||||
| Induced Change | 3-Hydroxyanthranilic acid concentration: increase (FC = 63.6) | |||||
| Summary | Introduced Variation
|
|||||
| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.483dupT) of HAAO leads to the increase of 3-hydroxyanthranilic acid levels compared with control group. | |||||
| Regulating Pair (2) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.558G-A) of HAAO | |||||
| Induced Change | 3-Hydroxyanthranilic acid concentration: increase (FC = 384.9) | |||||
| Summary | Introduced Variation
|
|||||
| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.558G-A) of HAAO leads to the increase of 3-hydroxyanthranilic acid levels compared with control group. | |||||
| Organic oxygen compounds | ||||||
| L-3-Hydroxykynurenine | Click to Show/Hide the Full List of Regulating Pair(s): 2 Pair(s) | |||||
| Detailed Information |
Metabo Info
click to show the details of this metabolite
|
|||||
| Regulating Pair (1) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.483dupT) of HAAO | |||||
| Induced Change | L-3-Hydroxykynurenine concentration: increase (FC = 1.9) | |||||
| Summary | Introduced Variation
|
|||||
| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.483dupT) of HAAO leads to the increase of L-3-hydroxykynurenine levels compared with control group. | |||||
| Regulating Pair (2) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.558G-A) of HAAO | |||||
| Induced Change | L-3-Hydroxykynurenine concentration: increase (FC = 3.4) | |||||
| Summary | Introduced Variation
|
|||||
| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.558G-A) of HAAO leads to the increase of L-3-hydroxykynurenine levels compared with control group. | |||||
| L-Kynurenine | Click to Show/Hide the Full List of Regulating Pair(s): 2 Pair(s) | |||||
| Detailed Information |
Metabo Info
click to show the details of this metabolite
|
|||||
| Regulating Pair (1) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.483dupT) of HAAO | |||||
| Induced Change | L-Kynurenine concentration: increase (FC = 1.33) | |||||
| Summary | Introduced Variation
|
|||||
| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.483dupT) of HAAO leads to the increase of L-kynurenine levels compared with control group. | |||||
| Regulating Pair (2) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.558G-A) of HAAO | |||||
| Induced Change | L-Kynurenine concentration: increase (FC = 1.2) | |||||
| Summary | Introduced Variation
|
|||||
| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.558G-A) of HAAO leads to the increase of L-kynurenine levels compared with control group. | |||||
| Organoheterocyclic compounds | ||||||
| Picolinic acid | Click to Show/Hide the Full List of Regulating Pair(s): 2 Pair(s) | |||||
| Detailed Information |
Metabo Info
click to show the details of this metabolite
|
|||||
| Regulating Pair (1) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.483dupT) of HAAO | |||||
| Induced Change | Picolinic acid concentration: decrease (FC= 0.45) | |||||
| Summary | Introduced Variation
|
|||||
| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.483dupT) of HAAO leads to the decrease of picolinic acid levels compared with control group. | |||||
| Regulating Pair (2) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.558G-A) of HAAO | |||||
| Induced Change | Picolinic acid concentration: increase (FC = 1.1) | |||||
| Summary | Introduced Variation
|
|||||
| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.558G-A) of HAAO leads to the increase of picolinic acid levels compared with control group. | |||||
| Quinolinic acid | Click to Show/Hide the Full List of Regulating Pair(s): 2 Pair(s) | |||||
| Detailed Information |
Metabo Info
click to show the details of this metabolite
|
|||||
| Regulating Pair (1) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.483dupT) of HAAO | |||||
| Induced Change | Quinolinic acid concentration: decrease (FC= 0.45) | |||||
| Summary | Introduced Variation
|
|||||
| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.483dupT) of HAAO leads to the decrease of quinolinic acid levels compared with control group. | |||||
| Regulating Pair (2) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.558G-A) of HAAO | |||||
| Induced Change | Quinolinic acid concentration: decrease (FC= 0.26) | |||||
| Summary | Introduced Variation
|
|||||
| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.558G-A) of HAAO leads to the decrease of quinolinic acid levels compared with control group. | |||||
| Tryptophan | Click to Show/Hide the Full List of Regulating Pair(s): 2 Pair(s) | |||||
| Detailed Information |
Metabo Info
click to show the details of this metabolite
|
|||||
| Regulating Pair (1) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.483dupT) of HAAO | |||||
| Induced Change | Tryptophan concentration: increase (FC = 1.3) | |||||
| Summary | Introduced Variation
|
|||||
| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.483dupT) of HAAO leads to the increase of tryptophan levels compared with control group. | |||||
| Regulating Pair (2) |
Experim Info
click to show the details of experiment for validating this pair
|
[1] | ||||
| Introduced Variation | Mutation (c.558G-A) of HAAO | |||||
| Induced Change | Tryptophan concentration: increase (FC = 1.1) | |||||
| Summary | Introduced Variation
|
|||||
| Disease Status | Hereditary methemoglobinemia [ICD-11: 3A92] | |||||
| Details | It is reported that mutation (c.558G-A) of HAAO leads to the increase of tryptophan levels compared with control group. | |||||
| References | |||||
|---|---|---|---|---|---|
| 1 | NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017 Aug 10;377(6):544-552. | ||||
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