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

Gene ID: 23498, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See HAAO in Genome Data Viewer
Location:
2p21
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (42767089..42792583, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (42772378..42797833, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (42994229..43019723, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene metastasis associated 1 family member 3 Neighboring gene RNA, U6 small nuclear 137, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:42983184-42983754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:42983755-42984326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:42994558-42995463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11411 Neighboring gene oxoeicosanoid receptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11414 Neighboring gene tRNA-Ile (anticodon TAT) 2-1 Neighboring gene FTO pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. 3-Hydroxyanthranilate oxygenase activity is increased in the brains of Huntington disease victims. Schwarcz R, et al. Proc Natl Acad Sci U S A, 1988 Jun. PMID 2967497, Free PMC Article
  2. Molecular cloning and functional expression of human 3-hydroxyanthranilic-acid dioxygenase. Malherbe P, et al. J Biol Chem, 1994 May 13. PMID 7514594
  3. Cloning of human 3-hydroxyanthranilic acid dioxygenase in Escherichia coli: characterisation of the purified enzyme and its in vitro inhibition by Zn2+. Calderone V, et al. Biochim Biophys Acta, 2002 Apr 29. PMID 12007609
  4. Identification of candidate epigenetic biomarkers for ovarian cancer detection. Huang YW, et al. Oncol Rep, 2009 Oct. PMID 19724865, Free PMC Article
  5. Crystal structures of human 3-hydroxyanthranilate 3,4-dioxygenase with native and non-native metals bound in the active site. Pidugu LS, et al. Acta Crystallogr D Struct Biol, 2017 Apr 1. PMID 28375145, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. GTF2A1 alone, or GTF2A1 plus HAAO are excellent candidate biomarkers for detecting Ovarian cancer
    Title: Identification of candidate epigenetic biomarkers for ovarian cancer detection.
  8. 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.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
XP_011531031.1
XP_011531032.1
XP_054197187.1
XP_054197188.1

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)

  1. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    42767089..42792583 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    42772378..42797833 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_054341213.1 → XP_054197188.1  3-hydroxyanthranilate 3,4-dioxygenase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P46952.2 GenPept UniProtKB/Swiss-Prot:P46952

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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