HAAO (3-hydroxyanthranilate 3,4-dioxygenase)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
VCRL1
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(84)
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0000334 Function 3-hydroxyanthranilate 3,4-dioxygenase activity IBA 21873635
GO:0000334 Function 3-hydroxyanthranilate 3,4-dioxygenase activity IDA 7514594, 12007609, 28792876
GO:0005515 Function Protein binding IPI 16189514, 21044950, 25416956, 31515488, 32296183
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol IDA 7514594
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604521 4796 ENSG00000162882
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
GDTMDVLFEKWFYCKDLGTQLAPIIQEFFSSEQYRTGKPIPDQLLKEPPFPLSTRSIMEP
MSLDAWLDSHHRELQAGTPLSLFGDTYETQVIAYGQGSSEGLRQNVDVWLWQLEGSSVVT
MGGRRLSLAPDDSLLVLAGTSYAWERTQGSVALSVTQDPACKKPLG
Sequence length 286
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Tryptophan metabolism
Metabolic pathways
Biosynthesis of cofactors 		  Tryptophan catabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (8)
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)		 28792876
Congenital vertebral-cardiac-renal anomalies syndrome Congenital vertebral-cardiac-renal anomalies syndrome, VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1, VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 rs1135401744, rs758865880, rs770642379, rs1135401743, rs527656756, rs1232096291, rs144139747, rs1327307171, rs1949650831, rs1008561025, rs769220327 28792876
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)		 28792876
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)		 28792876
Show/Hide Unknown Diseases (6)
Unknown
Disease term Disease name Evidence References Source
Otitis media Recurrent otitis media 28792876 ClinVar
Renal hypoplasia Congenital hypoplasia of kidney 28792876 ClinVar
Congenital Vertebral-Cardiac-Renal Anomalies Syndrome congenital vertebral-cardiac-renal anomalies syndrome GenCC
Hypospadias Hypospadias GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining
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