HAAO 3-hydroxyanthranilate 3,4-dioxygenase [Homo sapiens (human)] - Gene

Summary

Official Symbol: HAAOprovided by HGNC
Official Full Name: 3-hydroxyanthranilate 3,4-dioxygenaseprovided by HGNC
Primary source: HGNC:HGNC:4796
See related: Ensembl:ENSG00000162882 MIM:604521; AllianceGenome:HGNC:4796
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HAO; 3-HAO; VCRL1; h3HAO
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]
Expression: Biased expression in liver (RPKM 28.1), kidney (RPKM 12.5) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p21

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (42767089..42792583, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (42772378..42797833, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (42994229..43019723, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Title: Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Expression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities.
Title: Expression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities.
Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion.
Title: Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion.
Genetic variations of HAAO and IRX6 influence susceptibility to hypospadias in the Japanese population.
Title: Single Nucleotide Polymorphisms of HAAO and IRX6 Genes as Risk Factors for Hypospadias.
Here, the first crystal structure of human 3-HAO with the native iron bound in its active site is presented, together with an additional structure with zinc (a known inhibitor of human 3-HAO) bound in the active site.
Title: Crystal structures of human 3-hydroxyanthranilate 3,4-dioxygenase with native and non-native metals bound in the active site.
Methylation status of CIDEA, HAAO and RXFP3 had significant association with microsatellite instability in endometrial tumors.
Title: Promoter hypermethylation of CIDEA, HAAO and RXFP3 associated with microsatellite instability in endometrial carcinomas.
GTF2A1 alone, or GTF2A1 plus HAAO are excellent candidate biomarkers for detecting Ovarian cancer
Title: Identification of candidate epigenetic biomarkers for ovarian cancer detection.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Vertebral, cardiac, renal, and limb defects syndrome 1 MedGen: C4540004 OMIM: 617660 GeneReviews: Congenital NAD Deficiency Disorder	not available

EBI GWAS Catalog

Description
Genome-wide association analyses identify variants in developmental genes associated with hypospadias. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2259 (e-PCR), detects polymorphism
- UniSTS:26220

D2S2613 (e-PCR)
- UniSTS:63609

D17S1192 (e-PCR)
- UniSTS:73891

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-hydroxyanthranilate 3,4-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3-hydroxyanthranilate 3,4-dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables electron transfer activity	NAS Non-traceable Author Statement more info	PubMed
enables ferrous iron binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 'de novo' NAD biosynthetic process from tryptophan	IBA Inferred from Biological aspect of Ancestor more info
involved_in NAD biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in anthranilate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in neuron cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in quinolinate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in quinolinate biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in quinolinate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to cadmium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in response to zinc ion	IDA Inferred from Direct Assay more info	PubMed
involved_in tryptophan catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: 3-hydroxyanthranilate 3,4-dioxygenase

Names: 3-hydroxyanthranilate oxygenase; 3-hydroxyanthranilic acid dioxygenase; HAD

NP_036337.2

EC 1.13.11.6

XP_011531031.1

EC 1.13.11.6

XP_011531032.1

EC 1.13.11.6

XP_054197187.1

EC 1.13.11.6

XP_054197188.1

EC 1.13.11.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_012205.3 → NP_036337.2 3-hydroxyanthranilate 3,4-dioxygenase

See identical proteins and their annotated locations for NP_036337.2

Status: REVIEWED

Source sequence(s)

BI602406, CB850657, Z29481

Consensus CDS

CCDS33187.1

UniProtKB/Swiss-Prot

A6NE56, B4DIN2, P46952, Q53QZ7, Q8N6N9

Related

ENSP00000294973.6, ENST00000294973.11

Conserved Domains (1) summary

pfam06052
Location:2 → 149

3-HAO; 3-hydroxyanthranilic acid dioxygenase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

42767089..42792583 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532729.4 → XP_011531031.1 3-hydroxyanthranilate 3,4-dioxygenase isoform X1

Conserved Domains (1) summary

cl21464
Location:2 → 122

cupin_like; Conserved domain found in cupin and related proteins
XM_011532730.4 → XP_011531032.1 3-hydroxyanthranilate 3,4-dioxygenase isoform X2

Conserved Domains (1) summary

cl21464
Location:1 → 115

cupin_like; Conserved domain found in cupin and related proteins

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

42772378..42797833 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054341212.1 → XP_054197187.1 3-hydroxyanthranilate 3,4-dioxygenase isoform X1
XM_054341213.1 → XP_054197188.1 3-hydroxyanthranilate 3,4-dioxygenase isoform X2