• Gene id: 23498

Gene Summary

• Gene Symbol: HAAO   Gene   UCSC   Ensembl
• Aliases: 3-HAO, HAO, VCRL1, h3HAO
• Gene name: 3-hydroxyanthranilate 3,4-dioxygenase
• Alternate names: 3-hydroxyanthranilate 3,4-dioxygenase, 3-hydroxyanthranilate oxygenase, 3-hydroxyanthranilic acid dioxygenase, HAD,
• Gene location: 2p21 (42801001: 42767086)     Exons: 11     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 604521

SNPs

rs3816183

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.42788579T>C
NC_000002.11   g.43015719T>C
XM_005264230.4   c.109A>G
XM_005264230.1   c.109A>G
XM_011532730.3   c.7A>G
XM_011532729.3   c.109A>G
XM_011532731.3   c.109A>G
NM_012205.3   c.109A>G
NM_012205.2   c.109A>G
XM_017003717.2   c.7A>G
XM_024452774.1  

Protein Summary

• Protein general information: P46952  
  • Name: 3 hydroxyanthranilate 3,4 dioxygenase (EC 1.13.11.6) (3 hydroxyanthranilate oxygenase) (3 HAO) (h3HAO) (3 hydroxyanthranilic acid dioxygenase) (HAD)
  • Length: 286  
  • Mass: 32556
• Sequence:

  MERRLGVRAWVKENRGSFQPPVCNKLMHQEQLKVMFIGGPNTRKDYHIEEGEEVFYQLEGDMVLRVLEQGKHRDV
  VIRQGEIFLLPARVPHSPQRFANTVGLVVERRRLETELDGLRYYVGDTMDVLFEKWFYCKDLGTQLAPIIQEFFS
  SEQYRTGKPIPDQLLKEPPFPLSTRSIMEPMSLDAWLDSHHRELQAGTPLSLFGDTYETQVIAYGQGSSEGLRQN
  VDVWLWQLEGSSVVTMGGRRLSLAPDDSLLVLAGTSYAWERTQGSVALSVTQDPACKKPLG

• Structural information:
  • Interpro: IPR010329  IPR016700  IPR014710  IPR011051  
  • PDB: 2QNK 5TK5 5TKQ
  • PDBsum: 2QNK 5TK5 5TKQ
  • STRING: ENSP00000294973
• Other Databases: GeneCards:  HAAO  Malacards:  HAAO

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034354	'de novo' NAD biosynthetic process from tryptophan	IBA	biological process
GO:0000334	3-hydroxyanthranilate 3,4-dioxygenase activity	IBA	molecular function
GO:0046874	quinolinate metabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0019805	quinolinate biosynthetic process	IDA	biological process
GO:0000334	3-hydroxyanthranilate 3,4-dioxygenase activity	IDA	molecular function
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0009435	NAD biosynthetic process	IMP	biological process
GO:0000334	3-hydroxyanthranilate 3,4-dioxygenase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0019363	pyridine nucleotide biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0000334	3-hydroxyanthranilate 3,4-dioxygenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006569	tryptophan catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000334	3-hydroxyanthranilate 3,4-dioxygenase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0034354	'de novo' NAD biosynthetic process from tryptophan	IEA	biological process
GO:0019805	quinolinate biosynthetic process	IEA	biological process
GO:0006569	tryptophan catabolic process	IEA	biological process
GO:0000334	3-hydroxyanthranilate 3,4-dioxygenase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008198	ferrous iron binding	IEA	molecular function
GO:0043420	anthranilate metabolic process	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:0009435	NAD biosynthetic process	IEA	biological process
GO:0010043	response to zinc ion	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0000334	3-hydroxyanthranilate 3,4-dioxygenase activity	IDA	molecular function
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0046686	response to cadmium ion	IDA	biological process
GO:0000334	3-hydroxyanthranilate 3,4-dioxygenase activity	IDA	molecular function
GO:0070050	neuron cellular homeostasis	IMP	biological process
GO:0019805	quinolinate biosynthetic process	NAS	biological process
GO:0009055	electron transfer activity	NAS	molecular function
GO:0019805	quinolinate biosynthetic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00380	Tryptophan metabolism

Diseases

Associated diseases	References
Vertebral, cardiac, renal, and limb defects syndrome	KEGG:H02087
Vertebral, cardiac, renal, and limb defects syndrome	KEGG:H02087
Schizophrenia	PMID:21036897
Hypospadias	MIK: 25108383
Hypospadias	MIK: 30063927

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
30063927	Hypospadias	rs3816183	Japanes e	169 cases	Male infertility	NGS
25108383	Hypospadias	rs3816183		1,006 boys who underwent surgery for hypospadias and 5,486 individuals (2,390 males and 3,096 females)	Male infertility	GWAS