Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23498
Gene name Gene Name - the full gene name approved by the HGNC.
3-hydroxyanthranilate 3,4-dioxygenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HAAO
Synonyms (NCBI Gene) Gene synonyms aliases
3-HAO, HAO, VCRL1, h3HAO
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p21
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT490268 hsa-miR-6502-3p PAR-CLIP 23592263
MIRT490267 hsa-miR-4781-5p PAR-CLIP 23592263
MIRT490266 hsa-miR-4787-5p PAR-CLIP 23592263
MIRT490265 hsa-miR-4722-5p PAR-CLIP 23592263
MIRT490264 hsa-miR-744-5p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000334 Function 3-hydroxyanthranilate 3,4-dioxygenase activity IBA
GO:0000334 Function 3-hydroxyanthranilate 3,4-dioxygenase activity IDA 7514594, 12007609, 28792876
GO:0000334 Function 3-hydroxyanthranilate 3,4-dioxygenase activity IEA
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 16189514, 21044950, 25416956, 31515488, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604521 4796 ENSG00000162882
Protein
UniProt ID P46952
Protein name 3-hydroxyanthranilate 3,4-dioxygenase (EC 1.13.11.6) (3-hydroxyanthranilate oxygenase) (3-HAO) (h3HAO) (3-hydroxyanthranilic acid dioxygenase) (HAD)
Protein function Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate.
PDB 2QNK , 5TK5 , 5TKQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06052 3-HAO 1 149 3-hydroxyanthranilic acid dioxygenase Domain
Sequence
MERRLGVRAWVKENRGSFQPPVCNKLMHQEQLKVMFIGGPNTRKDYHIEEGEEVFYQLEG
DMVLRVLEQGKHRDVVIRQGEIFLLPARVPHSPQRFANTVGLVVERRRLETELDGLRYYV
GDTMDVLFEKWFYCKDLGTQLAPIIQEFF
SSEQYRTGKPIPDQLLKEPPFPLSTRSIMEP
MSLDAWLDSHHRELQAGTPLSLFGDTYETQVIAYGQGSSEGLRQNVDVWLWQLEGSSVVT
MGGRRLSLAPDDSLLVLAGTSYAWERTQGSVALSVTQDPACKKPLG
Sequence length 286
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Tryptophan metabolism
Metabolic pathways
Biosynthesis of cofactors
  Tryptophan catabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital vertebral-cardiac-renal anomalies syndrome vertebral, cardiac, renal, and limb defects syndrome 1 rs1135401743, rs527656756, rs1232096291 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Plasma anastrozole concentration in anastrozole-treated estrogen receptor positive breast cancer N/A N/A GWAS
Hypospadias Hypospadias N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic lateral sclerosis 1 Associate 34194442
Autism Spectrum Disorder Associate 33767242
Carcinoma Renal Cell Associate 32390008
COVID 19 Associate 36734721
Endometrial Neoplasms Associate 20211485
Glucosephosphate Dehydrogenase Deficiency Associate 25677060
Hypospadias Associate 40547448
Inflammation Stimulate 36291123
Ovarian Neoplasms Associate 19724865
Prostatic Neoplasms Associate 24938434