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

Gene ID: 23498, updated on 24-Nov-2020

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
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

Genomic context

See HAAO in Genome Data Viewer
Location:
2p21
Exon count:
11
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (42767087..42801002, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (42994229..43019753, 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 oxoeicosanoid receptor 1 Neighboring gene uncharacterized LOC107985875 Neighboring gene tRNA-Ile (anticodon TAT) 2-1 Neighboring gene FTO pseudogene 1 Neighboring gene CHORDC1 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
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
GeneReviews: Not available
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
MedGen: C4540004 OMIM: 617660 GeneReviews: Not available
not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-hydroxyanthranilate 3,4-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3-hydroxyanthranilate 3,4-dioxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
electron transfer activity NAS
Non-traceable Author Statement
more info
PubMed 
ferrous iron binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
'de novo' NAD biosynthetic process from tryptophan IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
anthranilate metabolic process IEA
Inferred from Electronic Annotation
more info
 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
neuron cellular homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
quinolinate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
quinolinate biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
quinolinate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to cadmium ion IDA
Inferred from Direct Assay
more info
PubMed 
response to zinc ion IDA
Inferred from Direct Assay
more info
PubMed 
tryptophan catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
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_005264287.1
XP_011531031.1
XP_011531032.1
XP_011531033.1
XP_016859206.1
XP_024308542.1
XP_024308543.1

NCBI Reference Sequences (RefSeq)

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
    P46952
    Related
    ENSP00000294973.6, ENST00000294973.11
    Conserved Domains (1) summary
    pfam06052
    Location:2149
    3-HAO; 3-hydroxyanthranilic acid dioxygenase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    42767087..42801002 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452774.1XP_024308542.1  3-hydroxyanthranilate 3,4-dioxygenase isoform X1

    Conserved Domains (1) summary
    pfam06052
    Location:2149
    3-HAO; 3-hydroxyanthranilic acid dioxygenase
  2. XM_017003717.2XP_016859206.1  3-hydroxyanthranilate 3,4-dioxygenase isoform X7

  3. XM_024452775.1XP_024308543.1  3-hydroxyanthranilate 3,4-dioxygenase isoform X2

    Conserved Domains (1) summary
    cl21464
    Location:1115
    cupin_like; Conserved domain found in cupin and related proteins
  4. XM_011532731.3XP_011531033.1  3-hydroxyanthranilate 3,4-dioxygenase isoform X6

    Conserved Domains (1) summary
    cl21464
    Location:2122
    cupin_like; Conserved domain found in cupin and related proteins
  5. XM_011532729.3XP_011531031.1  3-hydroxyanthranilate 3,4-dioxygenase isoform X3

    Conserved Domains (1) summary
    cl21464
    Location:2122
    cupin_like; Conserved domain found in cupin and related proteins
  6. XM_005264230.4XP_005264287.1  3-hydroxyanthranilate 3,4-dioxygenase isoform X5

    Conserved Domains (1) summary
    pfam06052
    Location:2149
    3-HAO; 3-hydroxyanthranilic acid dioxygenase
  7. XM_011532730.3XP_011531032.1  3-hydroxyanthranilate 3,4-dioxygenase isoform X4

    Conserved Domains (1) summary
    cl21464
    Location:1115
    cupin_like; Conserved domain found in cupin and related proteins
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