HAAO - 3-hydroxyanthranilate 3,4-dioxygenase Gene

Homo sapiens

Also known as HAO; 3-HAO; VCRL1; h3HAO

Gene ID: 23498 | Gene type: protein coding

About HAAO

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:42,767,089-42,792,583 (from NCBI)

This gene has 7 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Biased expression in liver (RPKM 28.1), kidney (RPKM 12.5) and 13 other tissues.

Summary

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 Products(1)

mRNA	Protein	Name
NM_012205.3	NP_036337.2	3-hydroxyanthranilate 3,4-dioxygenase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 3-hydroxyanthranilate 3,4-dioxygenase activity	IDA IDA: Inferred from direct assay	7514594	GOA
enables ferrous iron binding	IDA IDA: Inferred from direct assay	12007609	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in NAD biosynthetic process	IMP IMP: Inferred from mutant phenotype	28792876	GOA
involved in neuron cellular homeostasis	IMP IMP: Inferred from mutant phenotype	2967497	GOA
involved in quinolinate biosynthetic process	IDA IDA: Inferred from direct assay	28792876	GOA
involved in response to cadmium ion	IDA IDA: Inferred from direct assay	12007609	GOA
involved in response to zinc ion	IDA IDA: Inferred from direct assay	12007609	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	7514594	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HAAO Protein Structure

3-HAO

0
100
200
286 a.a.

Protein Preferred Names

Protein Names

3-hydroxyanthranilate 3,4-dioxygenase

3-hydroxyanthranilate oxygenase

HAAO Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HAAO	P46952	GAD1	Homo sapiens	Q8IVA8	Validated Y2H	25416956
Intra	HAAO	P46952	GAD1	Homo sapiens	Q8IVA8	Y2H Prey Pooling	25416956
Intra	HAAO	P46952	GAD1	Homo sapiens	Q99259	Y2H Prey Pooling	25416956
Intra	HAAO	P46952	GAD1	Homo sapiens	Q99259	Validated Y2H	32296183
Intra	HAAO	P46952	GAD1	Homo sapiens	Q99259	Y2H Prey Pooling	32296183
Intra	HAAO	P46952	GAD1	Homo sapiens	Q99259	Y2H Array	32296183
Intra	HAAO	P46952	POT1	Homo sapiens	Q9NUX5	Pull Down	21044950
Intra	HAAO	P46952	POT1	Homo sapiens	Q9NUX5	BiFC	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant HAAO Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76962	HAAO Protein, Human (sf9, His-GST)	P46952 (M1-G286)	≥95%

Related Diseases

Diseases

Alias

Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1

VCRL1	Congenital Nad Deficiency Disorder 1
3-Hydroxyanthranilic Acidemia

Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Congenital Nad Deficiency Disorder

Hydroxykynureninuria

Xanthurenic Aciduria	Kynureninase Deficiency
Kynureninase Deficiency, Partial	HYXKY
Partial Kynureninase Deficiency

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05981	HAAO Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HAAO	VGNC	VGNC:67530
Rattus norvegicus	HAAO	RGD	RGD:71071
Mus musculus	HAAO	MGD	MGI:1349444
Bos taurus	HAAO	VGNC	VGNC:29735
Macaca mulatta	HAAO	VGNC	VGNC:106169
Canis familiaris	HAAO	VGNC	VGNC:41580
Others	HAAO	NCBI

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