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

    Gene ID: 23498, updated on 11-Apr-2024

    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
    NEW
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    Genomic context

    See HAAO in Genome Data Viewer
    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_000002.12Genomic 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Vertebral, cardiac, renal, and limb defects syndrome 1 not available

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_012205.3NP_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:2149
      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

    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_011532729.4XP_011531031.1  3-hydroxyanthranilate 3,4-dioxygenase isoform X1

      Conserved Domains (1) summary
      cl21464
      Location:2122
      cupin_like; Conserved domain found in cupin and related proteins
    2. XM_011532730.4XP_011531032.1  3-hydroxyanthranilate 3,4-dioxygenase isoform X2

      Conserved Domains (1) summary
      cl21464
      Location:1115
      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_054341212.1XP_054197187.1  3-hydroxyanthranilate 3,4-dioxygenase isoform X1

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